Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ccl3 MGI:98260

Gene Summary

Name:

C-C motif chemokine ligand 3

Synonyms:

MIP1-alpha, LD78alpha, CCL3, MIP-1alpha, MIP-1 alpha, Scya3, macrophage inflammatory protein-1alpha, MIP1-(a), G0S19-1, Mip1a

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased circulating total protein level		Ccl3^em1(IMPC)H	HOM		Early adult	5.15×10^-06
decreased circulating serum albumin level		Ccl3^em1(IMPC)H	HOM		Early adult	3.60×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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.

Human diseases associated with Ccl3 (0 diseases)
Human diseases predicted to be associated with Ccl3 (551 diseases)

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	Matching phenotypes	Source
Plasma Fibronectin Deficiency	Reduced circulating fibronectin level	OMIM:614101
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Hypoalphalipoproteinemia, Primary, 2, Intermediate	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration	OMIM:619836
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	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 37	Colitis, Infectious encephalitis, Recurrent infections	OMIM:616098
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia	OMIM:300988
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di...	OMIM:615767
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, R...	OMIM:300635
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit...	ORPHA:33543
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, Recurrent viral in...	OMIM:614892
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Recurrent vira...	OMIM:209920
Cd8 Deficiency, Familial	Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral...	OMIM:608957
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent sinusitis...	OMIM:613960
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Neutropenia	OMIM:616022
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Impaired vibration sensation in the lower limbs, Acute myelomonocytic leuke...	OMIM:159550
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Senior-Loken Syndrome 4	Polydipsia, Anemia	OMIM:606996
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Immunodeficiency 76	Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis	OMIM:619164
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia	OMIM:222100
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi...	OMIM:618108
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Glutathione Synthetase Deficiency	Intention tremor, Hemolytic anemia, Ataxia, Neutropenia	OMIM:266130
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Familial Cold Urticaria	Dysesthesia, Arthritis, Polydipsia, Conjunctivitis	ORPHA:47045
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia	ORPHA:2494
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Choreoathetosis, Neutropenia, Pancreatitis, A...	ORPHA:79312
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Nephronophthisis-Like Nephropathy 2	Polydipsia, Bronchiectasis	OMIM:619468
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a...	OMIM:615285
Complement Factor B Deficiency	Recurrent bacterial infections, Peritonitis, Pneumonia, Recurrent meningococcal disease	OMIM:615561
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia	OMIM:229050
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Recurrent upper respira...	ORPHA:436159
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si...	OMIM:619281
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ...	ORPHA:911
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ...	OMIM:614878
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Impaired vibratory sensation, Neutropenia	OMIM:610738
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia	OMIM:619302
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,...	OMIM:616740
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Dystonia	OMIM:619301
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Acquired Central Diabetes Insipidus	Polydipsia	ORPHA:95626
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased...	OMIM:614470
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain	OMIM:191390
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Central Diabetes Insipidus	Polydipsia, Anorexia	ORPHA:178029
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis...	OMIM:618394
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia	OMIM:193670
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Recurrent viral infections, Atopic dermatitis, Membranous nephro...	OMIM:618999
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Immunodeficiency 70	Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia	OMIM:618969
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Chorea, Choreoathetosis, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin...	OMIM:617638
Dengue Fever	Hypoproteinemia	ORPHA:99828
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Feeding difficulties in infancy, Recurrent mycobacterial infections, Chronic diarrhea, Ch...	ORPHA:98813
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos...	ORPHA:572
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of...	OMIM:618986
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia	OMIM:618805
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Spinocerebellar Ataxia, Autosomal Recessive 23	Ataxia, Neutropenia	OMIM:616949
Mitochondrial Complex I Deficiency, Nuclear Type 33	Progressive neurologic deterioration, Bronchiectasis, Dysphagia, Aspiration pneumonia, Neutropeni...	OMIM:618253
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Immunodeficiency 102	Decreased circulating IgG level, Recurrent skin infections, Partial absence of specific antibody ...	OMIM:301082
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Bro...	OMIM:619752
Pediatric-Onset Graves Disease	Episcleritis, Hyperactivity, Tremor, Splenomegaly, Keratitis, Neutropenia in presence of anti-neu...	ORPHA:525731
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosu...	OMIM:614700
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec...	OMIM:618131
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Colitis, Recurrent sinusitis	OMIM:613101
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Teratoma, Pineal	Polydipsia	OMIM:273120
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency, Common Variable, 1	Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o...	OMIM:607594
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can...	OMIM:616433
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, H...	ORPHA:98850
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Minimal change glomerulonephritis	OMIM:617006
Huntington Disease	Bradyphrenia, Dystonia, Aggressive behavior, Oral-pharyngeal dysphagia, Chorea, Mental deteriorat...	ORPHA:399
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Acut...	ORPHA:486
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Compulsive behaviors, Reduction of neutrophil motility, R...	OMIM:266265
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, R...	OMIM:618935
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Alpha-Fetoprotein, Hereditary Persistence Of	Elevated circulating alpha-fetoprotein concentration	OMIM:615970
Bardet-Biedl Syndrome 9	Polydipsia, Polyphagia	OMIM:615986
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess,...	OMIM:301074
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Leukopenia, Addictive alcohol use, Neutro...	ORPHA:520
Nephronophthisis 4	Polydipsia, Anemia	OMIM:606966
Whipple Disease	Myositis, Pericarditis, Ataxia, Anorexia, Splenomegaly, Myocarditis, Uveitis, Arthritis, Polydips...	ORPHA:3452
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Hemochromatosis, Type 3	Arthritis, Lymphopenia, Anemia, Neutropenia	OMIM:604250
Immunodeficiency 27A	Hypoalbuminemia	OMIM:209950
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi...	OMIM:243150
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
East Syndrome	Polydipsia, Salt craving, Ataxia, Action tremor	ORPHA:199343
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma...	ORPHA:33110
Ochoa Syndrome	Polydipsia	ORPHA:2704
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Recurrent to...	ORPHA:2686
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:2070
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Recurrent otitis m...	OMIM:617475
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophago...	OMIM:301078
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ...	OMIM:304790
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia, Impaired Ig class switch recomb...	OMIM:308230
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Developmental And Epileptic Encephalopathy 66	Abnormal repetitive mannerisms, Anemia, Neutropenia	OMIM:618067
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Leishmaniasis	Hypoalbuminemia	ORPHA:507
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic oral candidias...	OMIM:615387
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Marchiafava-Bignami Disease	Ataxia, Confusion, Aggressive behavior, Gait ataxia, Dementia, Addictive alcohol use, Cognitive i...	ORPHA:221074
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Bardet-Biedl Syndrome 17	Polydipsia, Cognitive impairment	OMIM:615994
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Anterior uveitis, Colitis, Skin rash	OMIM:616744
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,...	OMIM:618849
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Nephronophthisis 1	Polydipsia, Anemia	OMIM:256100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasifo...	ORPHA:37042
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Recurrent infections, Inflammation...	OMIM:617718
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Dementia, Cognitive impairment, Neutropeni...	ORPHA:101096
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Anemia, Arth...	ORPHA:47612
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Immunodeficiency 23	Hemolytic anemia, Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Ataxia, ...	OMIM:615816
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:601859
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Hyperaldosteronism, Familial, Type Iii	Polydipsia	OMIM:613677
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Propionic Acidemia	Pancytopenia, Eczema, Neutropenia, Anemia, Dystonia, Pancreatitis, Thrombocytopenia	OMIM:606054
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia	OMIM:125800
Shigellosis	Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Sepsis, Uv...	ORPHA:810
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Decreased circu...	OMIM:275350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia	OMIM:304800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout, Anemia, Neutropenia	OMIM:617056
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Nephronophthisis 11	Polydipsia, Anemia	OMIM:613550
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Recurrent upper respiratory tract ...	OMIM:616100
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash, Splenomegaly...	ORPHA:398124
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Chédiak-Higashi Syndrome	Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia	ORPHA:167
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Ataxia, Dysdiadochokinesis, Polydipsia, Intention tremor	OMIM:612780
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Ataxia, Tremor, T...	OMIM:214500
Cystinosis	Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Polydipsia	ORPHA:369929
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Ataxia, Neutropenia	OMIM:620012
Familial Hyperaldosteronism Type Iii	Polydipsia	ORPHA:251274
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Senior-Loken Syndrome 1	Polydipsia, Anemia	OMIM:266900
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat...	ORPHA:2137
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, B ...	OMIM:601495
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Anemia, Leukopen...	ORPHA:292
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Chronic diarrhea, Esophageal varix, Recurrent infections	OMIM:614576
Reactive Arthritis	Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhe...	ORPHA:29207
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Toxic Epidermal Necrolysis	Dysphagia, Anemia, Conjunctivitis, Neutropenia, Polydipsia, Pancreatitis, Thrombocytopenia	ORPHA:537
Nephronophthisis 3	Polydipsia	OMIM:604387
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Trichohepatoenteric Syndrome 2	Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis	OMIM:614602
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, Br...	ORPHA:1163
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:603909
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ...	ORPHA:293173
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia	ORPHA:223
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Letterer-Siwe Disease	Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia	OMIM:246400
Primary Unilateral Adrenal Hyperplasia	Polydipsia	ORPHA:231580
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Choreoathetosis, Leukopenia, Neutrop...	OMIM:616271
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Recurrent ...	ORPHA:3243
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Confusion, Leukocytosis, Acute infectious pneumonia, Leukopenia, Addicti...	ORPHA:36238
Secondary Non-Traumatic Avascular Necrosis	Addictive alcohol use, Rheumatoid arthritis	ORPHA:399180
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o...	ORPHA:324964
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Brain-Lung-Thyroid Syndrome	Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Chorea, Recurrent pneumoni...	ORPHA:209905
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Recurrent pneumonia, Colitis, Bronchiectasis	OMIM:301220
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Polydipsia, Anemia	OMIM:239200
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ...	ORPHA:228119
Wolfram Syndrome	Polydipsia, Dementia, Ataxia, Anemia	ORPHA:3463
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:251000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ...	ORPHA:793
Senior-Boichis Syndrome	Aggressive behavior, Hepatosplenomegaly, Agitation, Attention deficit hyperactivity disorder, Pol...	ORPHA:84081
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Abnormal neutroph...	ORPHA:51636
Apparent Mineralocorticoid Excess	Polydipsia	ORPHA:320
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Ataxia, Neutropenia, Dysphagia, Choreoathetosis, Dystonia	OMIM:615471
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Anorexia, Colitis, Vomiting, Recurrent abscess formation, Intractable diarrhea, ...	OMIM:619381
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis...	ORPHA:158048
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia	OMIM:618329
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Ataxia, Impaired T cell function, Pure red cell aplasia, ...	OMIM:613179
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Ataxia, Polydipsia, Anemia	ORPHA:35687
Septo-Optic Dysplasia Spectrum	Polydipsia	ORPHA:3157
Panhypophysitis	Polydipsia, Hashimoto thyroiditis, Normochromic anemia	ORPHA:95513
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, P...	OMIM:617052
Leigh Syndrome	Dystonia, Ataxia, Eczema, Progressive neurologic deterioration, Chorea, Dysphagia, Choreoathetosi...	ORPHA:506
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia	OMIM:617303
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc...	ORPHA:89842
Gitelman Syndrome	Polydipsia, Salt craving, Ataxia, Paresthesia	OMIM:263800
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Glycogen Storage Disease Ib	Gout, Recurrent bacterial infections, Inflammation of the large intestine, Protuberant abdomen, H...	OMIM:232220
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Poikiloderma With Neutropenia	Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne...	OMIM:604173
3-Methylglutaconic Aciduria Type 7	Choreoathetosis, Opisthotonus, Infection associated neutropenia, Neutropenia	ORPHA:445038
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Esophagitis, Eosinophilic, 1	Vomiting, Esophagitis, Dysphagia	OMIM:610247
Esophagitis, Eosinophilic, 2	Vomiting, Esophagitis, Dysphagia	OMIM:613412
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Renal Hypoplasia	Polydipsia	ORPHA:93101
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura...	OMIM:608233
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Minimal change glomerulonephritis, Thrombocytopenia, Decreased proporti...	ORPHA:1830
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia	OMIM:619487
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul...	OMIM:242900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent Aspergillus infections, Villous atrophy, Inflammatory abnormality of the skin, Eczema, ...	ORPHA:391487
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Wiskott-Aldrich Syndrome	Eczema, Hematemesis, Diarrhea, Recurrent upper respiratory tract infections, Recurrent pneumonia,...	OMIM:301000
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Neutropenia	OMIM:616395
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hypocholesterolemia	OMIM:212065
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia...	ORPHA:14
Al Amyloidosis	Increased circulating NT-proBNP concentration, Hypoalbuminemia	ORPHA:85443
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Neutropenia, P...	OMIM:557000
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia, Addictive alcohol use	ORPHA:1930
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Confusion, Megaloblastic anemia, Tremor, Dementia, Neutropenia, Delirium, Thrombocytopenia	OMIM:277400
Helix Syndrome	Polydipsia	OMIM:617671
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Recurrent pneumonia, Pneumonia, Esophagitis	ORPHA:3348
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Neutrop...	ORPHA:508542
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Skin rash, Megaloblastic anemia, Anemia, Neutropenia, Stomatitis, Thrombocytopenia	OMIM:277380
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Lymphopenia	OMIM:617827
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Leukocytosis, Addictive alcohol use, Cognitive impairment, ...	ORPHA:90065
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia	OMIM:254900
Necrotizing Enterocolitis	Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia	ORPHA:391673
Plague	Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem...	ORPHA:707
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Eczema, Microcytic anemia, Keratitis...	ORPHA:906
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, D...	OMIM:242840
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Eczema, Aggressive behavior, Bruxism, Neutropenia	OMIM:617799
Infantile Nephropathic Cystinosis	Polydipsia, Cognitive impairment	ORPHA:411629
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, P...	OMIM:618213
Methanol Poisoning	Addictive alcohol use, Confusion	ORPHA:31825
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia, Recurrent otitis ...	OMIM:612562
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis	OMIM:222470
Sepsis In Premature Infants	Neonatal sepsis, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Fun...	ORPHA:90051
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Kikuchi-Fujimoto Disease	Ataxia, Skin rash, Anorexia, Pustule, Thrombocytopenia, Splenomegaly, Myocarditis, Leukopenia, Ly...	ORPHA:50918
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis, Recurrent bacterial in...	ORPHA:79259
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Tremor, Anemia, Neutropenia, Thrombocytopenia	OMIM:251100
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Neutropenia	OMIM:614900
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent otitis media, Rheumatoid art...	OMIM:607944
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Abnormal circulating lipid concentration, Hypotrig...	ORPHA:2298
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Megaloblastic anemia, Mental deterioration, Dementia, Neutropenia, Stomatitis, Memory imp...	ORPHA:79282
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Oligomeganephronia	Polydipsia	ORPHA:2260
Acute Lung Injury	Acute pancreatitis, Addictive alcohol use, Pneumonia	ORPHA:178320
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Neutropenia, Stomatitis, Megaloblastic anemia	ORPHA:79284
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti...	OMIM:615952
Glycogen Storage Disease Ic	Stomatitis, Chronic pancreatitis, Recurrent upper respiratory tract infections, Gout, Inflammatio...	OMIM:232240
Hermansky-Pudlak Syndrome 10	Splenomegaly, Dystonia, Neutropenia	OMIM:617050
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia	ORPHA:505248
Arima Syndrome	Polydipsia, Ataxia, Anemia	OMIM:243910
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Anorexia	ORPHA:1302
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Hypersplenism, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Cognitive impa...	ORPHA:731
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,...	ORPHA:33364
Fanconi Anemia, Complementation Group D2	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Attention deficit hyperactivity disorder, Neut...	OMIM:227646
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Polydipsia	ORPHA:93111
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Hypomagnesemia 3, Renal	Polydipsia	OMIM:248250
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Pancreatitis, Dysphagia	ORPHA:99880
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis...	ORPHA:90038
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Impaired pain sensation, Self-injurious behavior, Compulsive behaviors, Poly...	ORPHA:293987
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Recurrent infections, Colitis, Intra...	ORPHA:84064
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul...	OMIM:619708
Parathyroid Carcinoma	Polydipsia, Pancreatitis, Dysphagia	ORPHA:143
Gitelman Syndrome	Salt craving, Gout, Iron deficiency anemia, Tubulointerstitial nephritis, Paresthesia, Polydipsia...	ORPHA:358
Rabson-Mendenhall Syndrome	Polydipsia	ORPHA:769
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Recurrent viral infections, Secre...	OMIM:619573
Isolated Osteopoikilosis	Discoid lupus rash, Addictive alcohol use	ORPHA:166119
Khan-Khan-Katsanis Syndrome	Lymphopenia, Neutropenia, Anemia, Dysphagia	OMIM:618460
Distal Renal Tubular Acidosis	Hemolytic anemia, Polydipsia	ORPHA:18
3-Methylglutaconic Aciduria, Type Viii	Tremor, Dystonia, Neutropenia, Dysphagia	OMIM:617248
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis	OMIM:614204
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neutropenia, Compulsive behaviors, Aggressive behavior	ORPHA:163956
Cystinosis, Nephropathic	Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Splenomegaly, Dysphagia, Polydipsia	OMIM:219800
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Attention deficit hyperactivity disorder, Neutropenia, Leukemia, Anemia	ORPHA:221008
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227645
Hermansky-Pudlak Syndrome	Anorexia, Neutropenia	ORPHA:79430
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Colitis, Neutrophilia, Confusion, Leukocytosis, Hepatosplenomegaly, Chronic hepatiti...	ORPHA:3260
Primary Sclerosing Cholangitis	Acute hepatic failure, Recurrent systemic pyogenic infections, Cholangiocarcinoma, Abnormal large...	ORPHA:171
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux	OMIM:201475
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Myocarditis, Hepatitis, Arthritis	ORPHA:829
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Iga Pemphigus	Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,...	ORPHA:309031
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Pearson Syndrome	Reticulocytosis, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly, Dysphagia, Neutropenia, Hy...	ORPHA:699
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ...	ORPHA:562639
Juvenile Nephropathic Cystinosis	Polydipsia	ORPHA:411634
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Feeding difficulties, Esophagitis, Recurrent infections	ORPHA:541423
Cartilage-Hair Hypoplasia	Cognitive impairment, Decreased circulating antibody level, Anemia, Neutropenia	ORPHA:175
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia	OMIM:270400
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Polydipsia	OMIM:602522
Rothmund-Thomson Syndrome	Skin rash, Aplastic anemia, Neutropenia, Leukemia, Malar rash, Anemia	ORPHA:2909
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Increased circulating IgM...	OMIM:617099
Alpha-Fetoprotein Deficiency	Decreased circulating alpha-fetoprotein concentration	OMIM:615969
Japanese Encephalitis	Neutrophilia, Anorexia, Tremor, Opisthotonus, Choreoathetosis, Pill-rolling tremor, Increased cir...	ORPHA:79139
Cohen Syndrome	Neutropenia	ORPHA:193
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory...	ORPHA:544482
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar...	ORPHA:95455
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Feeding difficulties...	ORPHA:1199
Pneumocystosis	Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul...	ORPHA:723
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Neutropenia	OMIM:618005
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Abnormal erythrocyte enzyme level, Chronic ...	ORPHA:101330
Hyperlipoproteinemia, Type Id	Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Bartter Syndrome, Type 2, Antenatal	Polydipsia, Paresthesia	OMIM:241200
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint...	ORPHA:99867
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Esophagitis, Feeding difficulties	ORPHA:79350
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Stomatitis	OMIM:612852
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Esophagitis	OMIM:619652
Cocaine Intoxication	Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n...	ORPHA:90068
Proximal Renal Tubular Acidosis	Polydipsia	ORPHA:47159
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Cholangitis, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, H...	ORPHA:228426
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Hereditary Hyperekplexia	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:3197
Rothmund-Thomson Syndrome Type 2	Leukemia, Aplastic anemia, Anemia, Neutropenia	ORPHA:221016
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit...	OMIM:260920
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Ethylene Glycol Poisoning	Confusion, Addictive alcohol use, Gastritis, Ataxia	ORPHA:31826
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
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
Leptospirosis	Hyperproteinemia	ORPHA:509
Sarcoidosis, Susceptibility To, 1	Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,...	OMIM:181000
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Parotitis, Acute pancreatitis, Anorexia, Confusion, Erythema nodosum,...	ORPHA:99827
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arthritis, Crohn's...	OMIM:249100
Fumarase Deficiency	Necrotizing enterocolitis, Hepatic failure, High palate	OMIM:606812
Cirrhotic Cardiomyopathy	Addictive alcohol use	ORPHA:57777
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist...	ORPHA:2538
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis	ORPHA:70591
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis...	ORPHA:913
Sponastrime Dysplasia	Decreased circulating antibody level, Recurrent pneumonia, Neutropenia	ORPHA:93357
Aspartylglucosaminuria	Vacuolated lymphocytes, Acne, Neutropenia	OMIM:208400
Mowat-Wilson Syndrome	Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ...	ORPHA:2152
Pmm2-Cdg	Reduced thyroxin-binding globulin, Hypoalbuminemia	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 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.

No publications found that use IMPC mice or data for Ccl3.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ccl3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ccl3^em2(IMPC)H	Inter-exon deletion	Mice
Ccl3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Ccl3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Ccl3^em1(IMPC)H	Inter-exon deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us