Gene Summary

Name:
chemokine (C-C motif) ligand 3
Synonyms:
MIP1-(a),  MIP1-alpha,  MIP-1 alpha,  MIP-1alpha,  macrophage inflammatory protein-1alpha,  Mip1a,  CCL3,  Scya3,  LD78alpha,  G0S19-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating total protein level Ccl3em1(IMPC)H HOM Early adult 5.27×10-08
decreased circulating serum albumin level Ccl3em1(IMPC)H HOM Early adult 5.80×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Ccl3 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 Ccl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli... OMIM:613860
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent infections, Recurrent aphthous... OMIM:613960
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Recurrent meningococcal disease, Recurrent Klebsiell... OMIM:614372
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 37
Recurrent infections, Encephalitis, Colitis OMIM:616098
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia, Eczema OMIM:300988
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Recurrent respiratory infections, Mucoid di... OMIM:615767
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Malabsorption, Arthritis, Recurrent bacterial infect... OMIM:300310
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Acne, Colitis, Hepatitis, Recurrent infections... OMIM:300635
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Diarrhea, Recurrent bacterial infections, Recurrent... OMIM:613501
Senior-Loken Syndrome 1
Polydipsia, Anemia OMIM:266900
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Villo... OMIM:209920
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... OMIM:612692
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Bronchiectasis, Recurrent bacterial... OMIM:608957
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Diarrhea, Recurrent apht... OMIM:266600
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Hypoplastic a... OMIM:159550
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Diarrhea, Chronic sinusitis, Recurrent respiratory i... OMIM:613502
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... OMIM:617475
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Senior-Loken Syndrome 4
Polydipsia, Anemia OMIM:606996
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Ataxia, Intention tremor OMIM:266130
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Bronchiectasis, Perianal abscess, Diarrhea, Gastr... OMIM:618108
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Immunodeficiency 76
Recurrent bronchiolitis, Colitis, Chronic diarrhea, Recurrent pneumonia OMIM:619164
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Familial Cold Urticaria
Conjunctivitis, Polydipsia, Arthritis, Dysesthesia ORPHA:47045
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Recurrent infections,... OMIM:608809
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Complement Factor B Deficiency
Peritonitis, Recurrent meningococcal disease, Pneumonia, Recurrent bacterial infections OMIM:615561
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up... OMIM:605258
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent sinusitis, Chronic diarrhea, Colitis, Recurrent pn... OMIM:619281
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent upper and lower respiratory tract infect... ORPHA:911
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Impaired vibratory sensation, Neutropenia OMIM:610738
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Ulcerative colitis, Recurrent infections, Bronchiolitis OMIM:614878
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Anemia, Splenomegaly OMIM:603552
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Immunodeficiency 60
Bronchiectasis, Chronic diarrhea, Ulcerative colitis, Colitis, Recurrent sinopulmonary infections... OMIM:618394
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Membranous nephropathy, Recurrent viral infec... OMIM:618999
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Recurrent infections OMIM:617718
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Recurrent viral infections, Recurrent bacterial infections OMIM:242850
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Immunodeficiency 55
Eczema, Recurrent skin infections, Neutropenia OMIM:617827
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... OMIM:616050
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Omenn Syndrome
Hypoproteinemia OMIM:603554
Hyperlipoproteinemia, Type Id
Colitis OMIM:615947
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Dengue Fever
Hypoproteinemia ORPHA:99828
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia OMIM:618805
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Gait ataxia, Skin rash, Chronic hepatitis due to crypt... ORPHA:572
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia OMIM:304900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia, Bronchiectasis OMIM:193670
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Immunodeficiency 70
Furuncle, Recurrent sinusitis, Achalasia, Colitis, Celiac disease OMIM:618969
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Ataxia OMIM:616949
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis, Recurrent upper respiratory tract infections OMIM:613101
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Neutropenia, Thrombocytopenia, Anemia, Pancreatitis, Choreoathetosis ORPHA:289916
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Nausea and vomiting, Intestina... ORPHA:26790
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Cognitive impairment, Gout, Neutropenia, Anemia OMIM:617056
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Bronchiectasis, Thyroiditis, Recurrent otitis media, Recurre... OMIM:614700
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Recurre... OMIM:618131
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Leukopenia, Athetosis OMIM:229050
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Ulcerative colitis, Onychomycosis, Acute pancreatitis, Peri... OMIM:618935
Immunodeficiency 27A
Hypoalbuminemia OMIM:209950
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia OMIM:608104
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Central Diabetes Insipidus
Polydipsia ORPHA:178029
Hemochromatosis, Type 3
Lymphopenia, Neutropenia, Anemia, Arthritis OMIM:604250
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Teratoma, Pineal
Polydipsia OMIM:273120
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Pediatric-Onset Graves Disease
Tremor, Polyphagia, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Kerat... ORPHA:525731
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Acute myeloid leukemia... ORPHA:486
3-Methylglutaconic Aciduria, Type Viii
Tremor, Neutropenia OMIM:617248
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Recurrent... OMIM:604173
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Pancreatitis, Choreoathetosis ORPHA:79312
Eosinophilic Gastroenteritis
Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepatitis, Agammagl... ORPHA:33110
Nephronophthisis 4
Polydipsia, Anemia OMIM:606966
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Abdominal pain, Periodontitis, Perianal abscess, Sinusitis, S... ORPHA:2686
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Leishmaniasis
Hypoalbuminemia ORPHA:507
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
East Syndrome
Polydipsia, Salt craving, Ataxia, Action tremor ORPHA:199343
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic otitis media, Neutropenia, Thrombocytopenia, Conjunctivit... ORPHA:47
Whipple Disease
Pericarditis, Uveitis, Ataxia, Encephalitis, Anemia, Splenomegaly, Myositis, Polydipsia, Myocardi... ORPHA:3452
Pierson Syndrome
Hypoproteinemia OMIM:609049
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia ORPHA:340
Pelger-Huet Anomaly
Abnormality of neutrophils, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Neutro... OMIM:169400
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Slc35A1-Cdg
Neutropenia, Pneumonia, Thrombocytopenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Ileal ulcer, Anterior uveitis, Colitis OMIM:616744
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Ochoa Syndrome
Polydipsia ORPHA:2704
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Aregenerative Anemia
Erythroid hypoplasia, Dementia, Decreased proportion of CD4-positive helper T cells, Neutropenia,... ORPHA:101096
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Cystic acne, Sterile arthritis, Acne, Arthritis OMIM:604416
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Allergic rhinitis, Atopic derm... ORPHA:411696
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I OMIM:126850
Transcobalamin Ii Deficiency
Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased ... OMIM:275350
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia... ORPHA:37042
Felty Syndrome
Recurrent pneumonia, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Neutrope... ORPHA:47612
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Nephronophthisis 1
Polydipsia, Anemia OMIM:256100
Barth Syndrome
Granulocytopenia, Neutropenia OMIM:302060
Immunodeficiency 23
Allergic rhinitis, Hemolytic anemia, Increased circulating IgM level, Bronchiectasis, Increased c... OMIM:615816
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
Shigellosis
Peritonitis, Paralytic ileus, Acute colitis, Intestinal perforation, Tenesmus, Abdominal cramps, ... ORPHA:810
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Tremor, Impaired neutrophil bactericidal activity, Rec... OMIM:214500
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Ataxia, Salt craving, Intention tremor, Polydipsia OMIM:612780
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia OMIM:618067
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Neutropenia, Maculopapular exanthema, Pancytopenia, Thrombocytopenia... ORPHA:398124
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic atrophic gastritis, Lymphoc... OMIM:616100
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Maculopapular exanthema, Pan... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Neutropenia, Ataxia, Macrothrombocytopenia OMIM:603585
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Congenital Enterovirus Infection
Skin rash, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hepatitis... ORPHA:292
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Retinal Venous Beading
Nephritis, Neutropenia OMIM:180080
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Diabetes Insipidus, Nephrogenic, X-Linked
Polydipsia OMIM:304800
Avian Influenza
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating C-react... ORPHA:454836
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Athetosis, Polydipsia ORPHA:369929
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Nephronophthisis 11
Polydipsia, Anemia OMIM:613550
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Gastrointestinal hemorrhage, Abdominal pain... ORPHA:2137
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia OMIM:174900
Reactive Arthritis
Inflammation of the large intestine, Pustule, Pericarditis, Abdominal pain, Recurrent urinary tra... ORPHA:29207
Letterer-Siwe Disease
Seborrheic dermatitis, Neutropenia, Stomatitis, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:246400
Nephronophthisis 3
Polydipsia OMIM:604387
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Recurrent infections, Esophageal varix OMIM:614576
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Aspergillosis
Increased circulating IgE level, Bronchiectasis, Pneumonia, Neutropenia, Hepatitis, Keratitis, En... ORPHA:1163
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Sweet Syndrome
Inflammation of the large intestine, Pustule, Panniculitis, Recurrent infections, Oligoarthritis,... ORPHA:3243
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Periodontitis, Rectal abscess, Recurrent bacterial infection... OMIM:116920
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Psoriasiform derma... ORPHA:324964
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Hepatitis, Colitis OMIM:614602
Toxic Epidermal Necrolysis
Dysphagia, Neutropenia, Thrombocytopenia, Conjunctivitis, Anemia, Pancreatitis, Polydipsia ORPHA:537
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Neutropenia, Splenomegaly ORPHA:79477
Fusariosis
Lung abscess, Peritonitis, Bronchiectasis, Lymphopenia, Panniculitis, Granuloma, Neutropenia, Pne... ORPHA:228119
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Bronchiectasis, Lymphadenitis, Limb ataxia, Lymphopeni... ORPHA:51636
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production OMIM:614900
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia OMIM:617303
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Chronic diarrhea, Bronchiectasis, Recurrent pneumonia OMIM:301220
Propionic Acidemia
Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Pancreatitis, Eczema OMIM:606054
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Dysphagia, Choreoathetosis, Neutropenia, Ataxia OMIM:615471
Wolfram Syndrome
Ataxia, Polydipsia, Anemia, Dementia ORPHA:3463
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,... ORPHA:793
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Neutropenia, Anemia OMIM:614857
Cystinosis
Polydipsia ORPHA:213
Hyperparathyroidism, Neonatal Severe
Polydipsia, Anemia, Splenomegaly OMIM:239200
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphope... OMIM:613179
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Psoriasiform dermatitis, Oligoarthritis,... OMIM:106300
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia, Abnormal immunogl... OMIM:242900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Recurrent Aspergillus infections, Bronchiectasis, Recurrent upper respiratory t... ORPHA:391487
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Reduced natural killer cell activity, Recurrent ot... OMIM:608233
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Hypocholesterolemia, Decreased LDL cholesterol concentra... ORPHA:14
Wiskott-Aldrich Syndrome
Recurrent herpes, Inflammation of the large intestine, Recurrent upper respiratory tract infectio... OMIM:301000
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Shwachman-Diamond Syndrome
Skin rash, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anemia, P... ORPHA:811
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Skin rash, Megaloblastic anemia, Neutropenia, Stomatitis, Pancytopenia, Thrombocytopenia OMIM:277380
Gitelman Syndrome
Polydipsia, Salt craving, Paresthesia, Ataxia OMIM:263800
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Stomatitis, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:520
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Vomiting OMIM:613412
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Pneumonia, Dia... OMIM:600903
Methylmalonic Aciduria, Cbla Type
Tremor, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia OMIM:251100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Abnormal... ORPHA:89842
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Nephrogenic Diabetes Insipidus
Polydipsia ORPHA:223
Leigh Syndrome
Progressive neurologic deterioration, Dysphagia, Chorea, Neutropenia, Ataxia, Anemia, Eczema, Ath... ORPHA:506
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Renal Hypoplasia
Polydipsia ORPHA:93101
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Erdheim-Chester Disease
Skin rash, Ataxia, Anemia, Polydipsia, Osteomyelitis ORPHA:35687
3-Methylglutaconic Aciduria Type 7
Opisthotonus, Choreoathetosis, Infection associated neutropenia, Neutropenia ORPHA:445038
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Colitis, Hematochezia, Abdominal pain OMIM:203300
Panhypophysitis
Normochromic anemia, Polydipsia, Hashimoto thyroiditis ORPHA:95513
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Increased serum iron, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Primary Parathyroid Hyperplasia
Dysphagia, Polydipsia, Pancreatitis ORPHA:99878
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia OMIM:258360
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Panniculitis, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, A... ORPHA:508542
Septo-Optic Dysplasia Spectrum
Polydipsia ORPHA:3157
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Helix Syndrome
Polydipsia OMIM:617671
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Necrotizing Enterocolitis
Thrombocytopenia, Peritonitis, Neutropenia, Leukocytosis ORPHA:391673
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concen... ORPHA:2298
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Glossitis, Endocarditis, Hematemesis... ORPHA:707
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Tracheobronchopathia Osteochondroplastica
Esophagitis, Recurrent respiratory infections, Pneumonia, Recurrent pneumonia ORPHA:3348
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Dementia, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:277400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia ORPHA:505248
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Sepsis In Premature Infants
Gastrointestinal dysmotility, Neonatal sepsis, Functional abnormality of the gastrointestinal tra... ORPHA:90051
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Diamond-Blackfan Anemia 7
Esophagitis, Recurrent otitis media, Neutropenia, Increased mean corpuscular volume, Macrocytic a... OMIM:612562
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia OMIM:613658
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Protuberant abdomen, Thyroiditis, Hepatocellular carcinoma, ... ORPHA:79259
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Recurrent pneumonia, Chorea, Ataxia, Abnormal eating behavior, Intent... ORPHA:209905
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Lymphopenia, Recurrent otitis media, Rheumatoid a... OMIM:607944
Infantile Nephropathic Cystinosis
Cognitive impairment, Polydipsia ORPHA:411629
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymph... ORPHA:906
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Skin rash, Stomatitis, Neutropenia ORPHA:79284
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, Myocarditis, Endocardi... ORPHA:73263
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dementia, Megaloblastic anemia, Neutropenia, Ataxia, Stomatitis, Thrombocytopenia, Memory impairm... ORPHA:79282
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Decreased cir... OMIM:615952
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Chronic otitis media, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, My... ORPHA:3226
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Trichothiodystrophy
Gait ataxia, Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Neutr... ORPHA:33364
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Autosomal Recessive Polycystic Kidney Disease
Recurrent pneumonia, Polydipsia, Thrombocytopenia, Cholangitis, Hypersplenism, Splenomegaly, Cogn... ORPHA:731
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Re... OMIM:618213
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Fanconi Anemia, Complementation Group E
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:600901
Syndromic Diarrhea
Villous atrophy, Colitis, Recurrent infections, Gastritis, Intractable diarrhea, Dependency on in... ORPHA:84064
Oligomeganephronia
Polydipsia ORPHA:2260
Fanconi Anemia, Complementation Group A
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227650
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Intestinal perforation, Abdominal pain, Intussusception, Colonic sten... ORPHA:90038
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Dysphagia, Periodontitis, Cheilitis, Esophageal... ORPHA:2908
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Psoriasis 14, Pustular
Pustule, Leukocytosis, Cholangitis, Oligoarthritis, Neutrophilia, Psoriasiform dermatitis OMIM:614204
Gitelman Syndrome
Iron deficiency anemia, Paresthesia, Hashimoto thyroiditis, Gout, Tubulointerstitial nephritis, S... ORPHA:358
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia, Pancreatitis ORPHA:99880
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Arthritis ORPHA:93111
Parathyroid Carcinoma
Dysphagia, Polydipsia, Pancreatitis ORPHA:143
Cystinosis, Nephropathic
Progressive neurologic deterioration, Dysphagia, Oral-pharyngeal dysphagia, Splenomegaly, Polydipsia OMIM:219800
Distal Renal Tubular Acidosis
Polydipsia, Hemolytic anemia ORPHA:18
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
Fanconi Anemia, Complementation Group C
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227645
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Adult-Onset Still Disease
Skin rash, Pericarditis, Leukocytosis, Hepatitis, Splenomegaly, Neutrophilia, Myocarditis, Arthritis ORPHA:829
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting OMIM:201475
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Encephalitis, Polyphagia, Impaired pain sensation ORPHA:293987
Idiopathic Hypereosinophilic Syndrome
Chronic hepatitis, Anemia, Neutrophilia, Eczema, Memory impairment, Eosinophilia, Paresthesia, Th... ORPHA:3260
Pearson Syndrome
Reticulocytosis, Dysphagia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Anemia, Splenome... ORPHA:699
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Abdominal pain, Steatorrhea, Colitis, Keratoconjunctivitis sic... ORPHA:309031
Sandifer Syndrome
Hiatus hernia, Esophagitis, Feeding difficulties, Hematemesis, Gastroesophageal reflux, Episodic ... ORPHA:71272
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Sclerosing c... ORPHA:562639
X-Linked Lymphoproliferative Disease
Inflammation of the large intestine, Recurrent respiratory infections, Colitis, Decreased liver f... ORPHA:2442
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Recurrent infections, Feeding difficulties, Hepatic failure ORPHA:541423
Cartilage-Hair Hypoplasia
Cognitive impairment, Decreased circulating antibody level, Neutropenia, Anemia ORPHA:175
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Kikuchi-Fujimoto Disease
Lymphocytosis, Skin rash, Pustule, Neutropenia, Ataxia, Thrombocytopenia, Splenomegaly, Malar ras... ORPHA:50918
Rothmund-Thomson Syndrome
Skin rash, Neutropenia, Malar rash, Aplastic anemia, Anemia, Leukemia ORPHA:2909
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Neutropenia, Normocytic anemia OMIM:617941
Iga Pemphigus
Pustule, Cutaneous abscess, Ulcerative colitis, Neutrophilic infiltration of the skin ORPHA:555905
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Increased proportion of C... OMIM:617099
Glycogen Storage Disease Ib
Gout, Neutropenia, Pancreatitis OMIM:232220
Fanconi Anemia, Complementation Group D2
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227646
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Intestinal perforation, Abdominal cramps, Gastrointestinal infarctions, Abdominal ... ORPHA:544482
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Acute myeloid leukemia, Bronchiectasis, Neutropenia, Anemia OMIM:601347
Cohen Syndrome
Neutropenia ORPHA:193
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Esophageal Atresia
Gastrointestinal dysmotility, Esophagitis, Anorectal anomaly, Morphological abnormality of the ga... ORPHA:1199
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Acute i... ORPHA:723
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Gastroesophageal reflux, Feeding difficulties ORPHA:79350
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Cholangitis, Hep... ORPHA:228426
Cocaine Intoxication
Intestinal perforation, Abdominal pain, Gastrointestinal infarctions, Nausea, Colitis, Glomerulon... ORPHA:90068
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Stomatitis, Splenomegaly, Neutrophilia, Abscess, Osteomyelitis OMIM:612852
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Neutropenia, Anemia, Leukemia ORPHA:221008
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Anemia, Leukop... ORPHA:2330
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Gastrointestinal inflammation, Pneumonia, Neutropenia, Oral-pharyngeal dysphagia, Conj... ORPHA:95455
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Paresthesia OMIM:241200
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Leukocytosis, Lymphadenitis, Increased circulating IgA level... OMIM:260920
Proximal Renal Tubular Acidosis
Polydipsia ORPHA:47159
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Neutropenia, Anemia, Leukemia ORPHA:221016
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Hereditary Hyperekplexia
Hiatus hernia, Gastroesophageal reflux, Esophagitis ORPHA:3197
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Acute infectious pneumonia, Pneumonia, Leukopenia, Neutrophilia ORPHA:36238
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:99413
Turner Syndrome
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:881
Mosaic Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Gastrointestinal inflammation, Thyroiditis, Recurrent otitis... ORPHA:99226
Leptospirosis
Hyperproteinemia ORPHA:509
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Liver abscess, Anemia ORPHA:54251
Japanese Encephalitis
Pill-rolling tremor, Tremor, Increased circulating IgM level, Increased circulating antibody leve... ORPHA:79139
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Iridocyclitis, Bronchiectasis, Uveitis, Abnormal salivary gl... OMIM:181000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Familial Mediterranean Fever
Peritonitis, Pericarditis, Leukocytosis, Orchitis, Erysipelas, Splenomegaly, Neutrophilia, Crohn'... OMIM:249100
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Recurrent... ORPHA:99843
Zollinger-Ellison Syndrome
Esophagitis, Zollinger-Ellison syndrome, Gastrointestinal hemorrhage, Hematochezia, Nausea, Pepti... ORPHA:913
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, Ulcerative colitis, Cleft palate, Bifid uvula, High palate, Feeding diff... OMIM:617137
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Feeding difficulties, Perineal fistula, Gastroesophageal reflux, Inte... ORPHA:2538
Localized Scleroderma
Esophagitis, Gastroesophageal reflux, Uveitis, Hashimoto thyroiditis, Fasciitis, Arthritis ORPHA:90289
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia, Recurrent pneumonia ORPHA:93357
Occipital Horn Syndrome
Hiatus hernia, Esophagitis, Abnormality of esophagus physiology, Dysphagia, Gastroesophageal refl... ORPHA:198
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Gastroesophageal reflux, Esophagitis ORPHA:1901
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Vomiting, Esophagitis, Gastroesophageal reflux, Feeding difficulties ORPHA:79351
Aspartylglucosaminuria
Acne, Neutropenia, Vacuolated lymphocytes OMIM:208400
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Esophagitis, Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Vomiting, Hi... ORPHA:96182
Multiple Endocrine Neoplasia, Type I
Esophagitis, Peptic ulcer, Diarrhea, Zollinger-Ellison syndrome OMIM:131100
Arterial Tortuosity Syndrome
Hiatus hernia, Esophagitis, Median cleft lip and palate, Gastroesophageal reflux, Myocarditis, Py... ORPHA:3342
Pmm2-Cdg
Hypoalbuminemia, Reduced thyroxin-binding globulin ORPHA:79318
Mowat-Wilson Syndrome
Dysphagia, Recurrent otitis media, Constipation, Aganglionic megacolon, Bowel incontinence, Bifid... ORPHA:2152
Pitt-Hopkins Syndrome
Hiatus hernia, Esophagitis, Feeding difficulties, Constipation, Gastroesophageal reflux, Aganglio... ORPHA:2896
9Q33.3Q34.11 Microdeletion Syndrome
Dysphagia, Esophagitis, Constipation ORPHA:495818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Achalasia, Feeding difficulties OMIM:615356
Multiple Endocrine Neoplasia Type 4
Esophagitis, Zollinger-Ellison syndrome, Peptic ulcer, Diarrhea, Episodic abdominal pain ORPHA:276152

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 Ccl3

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 Ccl3.