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Gene: Icam1 MGI:96392

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
intercellular adhesion molecule 1
Synonyms:
CD54,  MALA-2,  Icam-1,  Ly-47

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Icam1 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 Icam1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... OMIM:615897
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... OMIM:619281
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 15B
Failure to thrive, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic... OMIM:615592
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno... OMIM:614470
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto... OMIM:616871
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Br... OMIM:617638
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... OMIM:615767
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... OMIM:212050
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Papular Xanthoma
Histiocytosis ORPHA:158008
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, Splenomegaly, H... OMIM:300635
Immunodeficiency 32B
Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder OMIM:131440
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... OMIM:619164
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... OMIM:618969
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... ORPHA:169154
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, H... ORPHA:169160
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Increased ... OMIM:243700
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Myel... ORPHA:486
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Immunodeficiency 88
Eosinophilia OMIM:619630
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti... OMIM:618523
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... OMIM:604416
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia... ORPHA:331206
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis ORPHA:26137
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis, Acrocy... ORPHA:3165
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... ORPHA:572
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... OMIM:614493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Abnormal natural killer c... OMIM:613101
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Recurrent pneumonia, Increased circulating IgE level, Chronic mucocutane... OMIM:147060
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Recurrent pneumonia, Increased ci... OMIM:618282
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media OMIM:266265
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... OMIM:308240
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... ORPHA:443811
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Increased ci... ORPHA:277
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... OMIM:304790
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ... ORPHA:3261
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... OMIM:616740
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis, Weight loss,... ORPHA:2902
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... OMIM:617388
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circul... OMIM:602450
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenom... OMIM:607624
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, B-cell lymphoma, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:102700
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... OMIM:240500
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Lymphadeni... OMIM:618935
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Increased T cell count, C... ORPHA:98813
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Roifman Syndrome
Eczema, Eosinophilia, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomega... ORPHA:353298
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... OMIM:615285
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... OMIM:619644
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia, Retinal thinning OMIM:618970
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemota... OMIM:260570
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Allergic rhinitis,... OMIM:615816
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic oral candidias... OMIM:615387
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degener... OMIM:520000
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl... OMIM:614172
Omenn Syndrome
Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Er... ORPHA:39041
Netherton Syndrome
Failure to thrive, Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating Ig... OMIM:256500
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, P... OMIM:618986
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level... ORPHA:90045
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplasia, Hematologi... ORPHA:98849
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Anemia OMIM:607115
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ... OMIM:301082
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... ORPHA:449400
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Reduced natural killer cell activity, Feeding difficult... OMIM:616050
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... OMIM:301074
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... OMIM:300400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Hematological neoplasm, Keratitis, Increased c... ORPHA:1163
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... OMIM:616433
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... OMIM:619774
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... OMIM:308230
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Indolent Systemic Mastocytosis
Skin rash, Maculopapular exanthema, Splenomegaly, Increased proportion of CD25+ mast cells, Abdom... ORPHA:98848
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerst... ORPHA:139402
Eosinophilic Gastroenteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Atopic dermatitis, Weight loss, Anemia ORPHA:2070
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Roifman Syndrome
Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Recurrent otitis media OMIM:616651
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... OMIM:613470
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Lymphoma, Chroni... ORPHA:2314
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... OMIM:603554
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sinusitis, Impaired T cell funct... OMIM:613179
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... ORPHA:2137
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... ORPHA:293173
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent upper respirat... OMIM:619752
Wells Syndrome
Eosinophilia ORPHA:901
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Vomi... ORPHA:37042
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... ORPHA:75564
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... OMIM:150550
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Anorexia, Abdominal pain, Mal... ORPHA:98850
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... OMIM:616100
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombo... OMIM:612541
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections, Sepsis OMIM:618847
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... ORPHA:324964
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Lymphopenia, Eosinophilia, Erythroderma OMIM:617425
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Bronchiectasis, Hypochromic mic... OMIM:619632
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc... ORPHA:183
Cystic Echinococcosis
Abscess, Eosinophilia, Weight loss, Membranous nephropathy, Increased circulating antibody level,... ORPHA:400
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t... OMIM:300310
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility... ORPHA:67
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233710
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splen... ORPHA:540
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Recurrent infections, B lymp... OMIM:301078
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Loeffler Endocarditis
Pericarditis, Eosinophilia, Weight loss ORPHA:75566
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... ORPHA:810
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:233690
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Hypoxemia, Interstitial pneum... ORPHA:723
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, Hematochezia, In... OMIM:617718
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Periventricular nodular heterotopia OMIM:620065
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis OMIM:614602
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea,... ORPHA:90038
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Recur... ORPHA:508533
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Abnormal dense gr... OMIM:214500
Alveolar Echinococcosis
Liver abscess, Cholangitis, Eosinophilia, Weight loss, Abnormal spleen morphology, Increased circ... ORPHA:284
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Chronic diarrhea, Esophageal varix, Decreas... OMIM:614576
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Hyperglycemia, Rod-cone dystrophy, Retinal degeneration,... OMIM:615986
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Neutrophilia, Eczema, Cholangitis, Eosinophilia, Myelodyspl... ORPHA:3260
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Bone marrow h... ORPHA:3226
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Nephritis, Pancreatitis... ORPHA:449427
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:617099
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Elevated circ... ORPHA:158061
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Hepatitis, Weight loss, Fa... ORPHA:199299
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abscess, Eosinophilia, Erythema nodosum, Abnor... ORPHA:228123
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow... OMIM:614204
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Igg4-Related Kidney Disease
Lymphadenitis, Lymphocytoma cutis, Tubulointerstitial nephritis, Increased circulating IgG level,... ORPHA:449395
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratitis, Orchitis, Incr... ORPHA:449563
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Essential Fructosuria
Hyperglycemia ORPHA:2056
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Leukocytosis, Chronic diarrhea, Splenomegaly, Hematochezia... OMIM:615895
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level, Inc... ORPHA:449432
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Spl... ORPHA:829
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... OMIM:306400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoi... ORPHA:391487
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, P... OMIM:614520
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Glucose intolerance, D... ORPHA:552
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... ORPHA:167
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Sepsis In Premature Infants
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Leukocytosis, Enterocolitis, Functi... ORPHA:90051
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... OMIM:258360
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:507
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia, Gout, Inflammation of the large intestine, Protuberant abdomen, Hepato... OMIM:232220
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Seborrheic dermatitis, Facial capillary hemangioma, Thrombocytopenia, Leukocytosis,... OMIM:274000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology, Cleft palate ORPHA:398189
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Granuloma, Hemophagocytosis, Hepatosplenomegaly OMIM:619858
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Combined Oxidative Phosphorylation Deficiency 54
Retrobulbar optic neuritis, Tachycardia, Optic disc pallor, Hyperglycemia OMIM:619737
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hyp... OMIM:604367
Incontinentia Pigmenti
Skin rash, Eosinophilia, Keratitis, Uveitis, Infectious encephalitis, Verrucae ORPHA:464
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Incontinentia Pigmenti
Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Uveitis OMIM:308300
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic... ORPHA:35858
Macrocephaly/Autism Syndrome
Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody level, Overgrowt... OMIM:605309
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... ORPHA:309031
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, ... OMIM:232240
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... ORPHA:247691
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, T... ORPHA:79259
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Hyperlipoproteinemia, Type Id
Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Diarrhea, Anemia ORPHA:54251
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight, Anemia OMIM:614450
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Leukoc... OMIM:249100
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Cryptogenic Organizing Pneumonia
Neutrophilia, Cyanosis, Leukocytosis, Weight loss, Hypoxemia ORPHA:1302
Familial Renal Glucosuria
Recurrent urinary tract infections, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral ... ORPHA:69076
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia OMIM:301220
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Joubert Syndrome 32
Polymicrogyria, Tall stature, Large for gestational age OMIM:617757
Letterer-Siwe Disease
Seborrheic dermatitis, Abdominal distention, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, S... OMIM:246400
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, ... ORPHA:544482
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia ORPHA:88
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, Le... ORPHA:811
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Hypereosinophilia ORPHA:2035
Syndromic Diarrhea
Lymphopenia, Villous atrophy, Gastritis, Hepatoblastoma, Increased mean platelet volume, Splenome... ORPHA:84064
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Sep... ORPHA:36238
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis OMIM:615122
Relapsing Fever
Neutrophilia, Abdominal pain, Thrombocytopenia, Diarrhea, Leukocytosis, Leukopenia, Vomiting, Anemia ORPHA:91547
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Minimal change glomerulonephritis, Abnormal lymphocyte physiology, Thro... ORPHA:1830
Generalized Pustular Psoriasis
Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Arthritis, Palmoplantar pustulosi... ORPHA:247353
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... ORPHA:707
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology ORPHA:353
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Elevated circulat... OMIM:242840
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Wolcott-Rallison Syndrome
Recurrent infections, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Neutropenia ORPHA:1667
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Esophagitis, Neutropenia, Rec... OMIM:612562
Niemann-Pick Disease, Type A
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia OMIM:257200
Wilson Disease
Splenomegaly, Hepatitis, Increased body weight, Weight loss, Anemia, Arthritis, Acute hepatitis, ... ORPHA:905
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity ORPHA:66628
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Recurrent otitis media, Increased body weight ORPHA:589905
Sarcoidosis
Hemolytic anemia, Maculopapular exanthema, Eosinophilia, Erythema nodosum, Thrombocytopenia, Incr... ORPHA:797
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Erythroderma ORPHA:79456
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity ORPHA:179494
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein concentration, Skin... OMIM:612852
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA level, Osteoarthritis... ORPHA:2298
Cushing Disease
Acne, Pituitary corticotropic cell adenoma, Leukocytosis, Increased body weight, Recurrent cutane... ORPHA:96253
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal eosinophil morphology, Abnormal large intesti... ORPHA:171
Donohue Syndrome
Hyperinsulinemia, Recurrent infections, Fasting hypoglycemia, Postprandial hyperglycemia, Hypergl... OMIM:246200
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Anemia, Impaired T cell function ORPHA:30
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Anorexia, Iridocyclitis, Splenomegaly, Bronchiect... OMIM:181000
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... ORPHA:99889
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Necrotizing Enterocolitis
Shock, Neonatal sepsis, Bradycardia, Hypotension, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... OMIM:619573
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Myocarditis, Lymphom... ORPHA:221
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Short Syndrome
Rieger anomaly, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyp... OMIM:269880
Viss Syndrome
Exostosis of the external auditory canal, Chronic gastritis, Eczema, Patent ductus arteriosus, In... OMIM:619472
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Impaired myocardial contractility ORPHA:681
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Leukocyte Adhesion Deficiency Type Ii
Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Abnormal isohemagglutinin... ORPHA:99843
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Portal hypertension, Congestive heart failure, Cardiomyopathy, Arrhythmia, Hyp... ORPHA:465508
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function, Recurrent candida infections OMIM:201100
Fumarase Deficiency
Necrotizing enterocolitis, Hepatic failure, High palate, Polycythemia OMIM:606812
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Hyperglycemia OMIM:615954
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Hyperglycemia, Type II diabetes mellitus, Myocardial infarction OMIM:615812
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto... OMIM:603553
Niemann-Pick Disease, Type C1
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells OMIM:257220
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:267700
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder ORPHA:70591
Hennekam-Beemer Syndrome
Pneumonia, Abdominal pain, High palate, Vomiting, Mastocytosis ORPHA:2135
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Cholangitis, Overweight, Obesity, Sclerosing cholangitis, Cholecystitis, Pancreatitis ORPHA:69663
Microgastria-Limb Reduction Defect Syndrome
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the spleen, Rectal atre... ORPHA:2538
Cole Disease
Hyperglycemia OMIM:615522
Insulinoma
Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, Increased body weight, Neoplasm of the... ORPHA:97279
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Kikuchi-Fujimoto Disease
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Thrombocytopenia, Sple... ORPHA:50918
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Cachexia ORPHA:75565
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas... ORPHA:1199
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis ORPHA:79351
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,... ORPHA:3132
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Glycosuria, Hyperglycemia, Retinopathy ORPHA:99885
Sotos Syndrome
Patent ductus arteriosus, Increased body weight, Overgrowth, Otitis media, Tall stature OMIM:117550
Beta-Ketothiolase Deficiency
Hypertension, Hyperglycemia, Hypoglycemia, Hypotension ORPHA:134
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... ORPHA:2088
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Hepatic failure, Esophagitis, Feeding difficulties ORPHA:541423
Niemann-Pick Disease, Type C2
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells OMIM:607625
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia OMIM:609069
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99413
Turner Syndrome
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:881
Mosaic Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99226
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Increased body weight ORPHA:64745
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Sea-blue histiocytosis OMIM:230600
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Le... ORPHA:1359
Localized Scleroderma
Fasciitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagitis, Hashimoto thyroiditis ORPHA:90289
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Acne, Pituitary adenoma, Increased body weight, Renal cell carcinoma, Abdominal obesity, Neuroend... ORPHA:189427
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... ORPHA:913
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Pigmented Nodular Adrenocortical Disease, Primary, 4
Acne, Increased body weight OMIM:615830
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Splenomegaly, Increased body weight, Failure to thrive, Anemia ORPHA:264580
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II diabetes mellitus, H... OMIM:151660
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Crimean-Congo Hemorrhagic Fever
Anorexia, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbillifor... ORPHA:99827
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Diabetes mellitus, Telangiectasia of the skin, Congestive he... ORPHA:79474
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Increased body weight, Anemia ORPHA:79240
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic... ORPHA:244242
H Syndrome
Hepatosplenomegaly, Histiocytosis, Microcytic anemia ORPHA:168569
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Poor appetite, Feeding difficulties in infancy, High, narrow palate, Vomiting, Gastroesophageal r... ORPHA:96182
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Portal hypertension ORPHA:440713
Multiple Endocrine Neoplasia, Type I
Diarrhea, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis OMIM:131100
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus OMIM:615710
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypoglycemia, Hypertrophic cardiomyopathy, Recurrent hypoglycemia, Hyperglycemia, Rod-cone dystrophy OMIM:124000
Dend Syndrome
Hyperglycemia ORPHA:79134
Lysinuric Protein Intolerance
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:222700
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma, Increased body weight, Weight loss ORPHA:1501
Listeriosis
Brain abscess, Liver abscess, Abscess, Abnormal cellular immune system morphology, Hepatic granul... ORPHA:533
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Elevated cir... ORPHA:99829
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Myocarditis, Gastroesophageal reflux, Esophagitis, Median cleft ... ORPHA:3342
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Eczema, Elevated circulating alpha-fetopro... OMIM:619991
Pitt-Hopkins Syndrome
Aganglionic megacolon, Hiatus hernia, Feeding difficulties, Constipation, Gastroesophageal reflux... ORPHA:2896
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... ORPHA:227990
9Q33.3Q34.11 Microdeletion Syndrome
Constipation, Esophagitis, Dysphagia ORPHA:495818
Velocardiofacial Syndrome
Impaired T cell function, Recurrent infections OMIM:192430
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... ORPHA:227982
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function, Recurrent viral infections OMIM:176690
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Achalasia, Esophagitis, Feeding difficulties OMIM:615356
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Increased body weight ORPHA:398069
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria OMIM:227810
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Histiocytosis, Hepatosplenomegaly OMIM:602782
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at... ORPHA:79102
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Occipital Horn Syndrome
Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Gastroesophageal reflux, Esophagiti... ORPHA:198
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152
22Q11.2 Deletion Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Arthritis, Hypoplasia of the... ORPHA:567
Lysinuric Protein Intolerance
Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia ORPHA:470
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Recurre... OMIM:188400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Leprechaunism
Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos... ORPHA:508
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Diarrhea, Episodic abdominal pain, Zollinger-Ellison syndrome, Esophagitis ORPHA:276152
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Hyperglycemia, Pulmonary arterial hypertension ORPHA:444077
Pauci-Immune Glomerulonephritis
Granulomatosis ORPHA:93126
Granulomatosis With Polyangiitis
Granulomatosis ORPHA:900
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Diabetes mellitus, Pulmonic stenosis, Glycosuria OMIM:600001
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hypertension, Mitral regurgitation, Hyperglycemia, Hypertrophic cardiomyopathy OMIM:220111
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Hyper... ORPHA:293987
Pmm2-Cdg
Pericarditis, Feeding difficulties, High palate, Vomiting, Aspiration pneumonia, Impaired neutrop... ORPHA:79318

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 Icam1

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 Icam1.

No publications found that use IMPC mice or data for Icam1.

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MGI Allele Allele Type Produced
Icam1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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