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Gene: Snx8 MGI:2443816

Gene Summary

Name:

sorting nexin 8

Synonyms:

B130023O14Rik

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	Allele	Zyg	Life Stage	P Value
increased leukocyte cell number	Snx8^{tm2a(EUCOMM)Hmgu}	HOM	Early adult	4.20×10^-06
decreased circulating fructosamine level	Snx8^{tm2a(EUCOMM)Hmgu}	HOM	Early adult	2.44×10^-10
increased circulating LDL cholesterol level	Snx8^{tm2a(EUCOMM)Hmgu}	HOM	Early adult	7.05×10^-06
decreased mean corpuscular hemoglobin concentration	Snx8^{tm2a(EUCOMM)Hmgu}	HOM	Early adult	2.49×10^-05
decreased circulating serum albumin level	Snx8^{tm2a(EUCOMM)Hmgu}	HOM	Early adult	1.89×10^-09
decreased circulating alkaline phosphatase level	Snx8^{tm2a(EUCOMM)Hmgu}	HOM	Early adult	2.94×10^-05
decreased circulating total protein level	Snx8^{tm2a(EUCOMM)Hmgu}	HOM	Early adult	1.27×10^-05
increased circulating cholesterol level	Snx8^{tm2a(EUCOMM)Hmgu}	HOM	Early adult	2.16×10^-05

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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.

X-ray

XRay Images Forepaw

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Anti-nuclear antibody assay

Images

3 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Ear epidermis immunophenotyping

Images

6 Images

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Legacy Phenotype Associated Images

Snx8^{tm2a(EUCOMM)Hmgu}
HOM, Female, WTSI

View all 39 images

Snx8^{tm2a(EUCOMM)Hmgu}
abnormal coat/hair pigmentation, HOM, Female, WTSI

Human diseases caused by Snx8 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 Snx8 (0 diseases)
Human diseases predicted to be associated with Snx8 (438 diseases)

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

The table below shows human diseases predicted to be associated to Snx8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t...	OMIM:613495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in...	OMIM:613494
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis	OMIM:619398
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration...	OMIM:619868
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,...	OMIM:613493
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,...	OMIM:613501
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:232700
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Anemia, Hyperlipidemia	OMIM:603278
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio...	OMIM:246700
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ...	OMIM:620632
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level...	OMIM:616873
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Whim Syndrome 1	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac...	OMIM:193670
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Recurrent Kle...	ORPHA:319552
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia	OMIM:613752
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc...	OMIM:603553
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Immunodeficiency 112	Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B...	OMIM:620449
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocy...	OMIM:209950
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia	OMIM:226300
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:240500
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto...	OMIM:226990
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD...	OMIM:615703
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Anemia, Eosinophilia, Elevated circulating C-reactive protein conc...	ORPHA:2070
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H...	ORPHA:247585
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc...	ORPHA:507
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomegaly, Elevated circulating c...	OMIM:616828
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections	ORPHA:169079
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia	OMIM:619013
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia	OMIM:620211
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:607594
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc...	OMIM:210250
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An...	ORPHA:158061
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Immunodeficiency 51	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu...	OMIM:613953
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C...	ORPHA:98813
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia	OMIM:618805
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Reduced delayed hypersensitivity	OMIM:607624
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Increased circulat...	OMIM:618944
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Increased circulating antibody level	OMIM:202700
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent fungal infections, Recurrent bacterial infections, Recur...	ORPHA:2688
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete...	OMIM:613496
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula...	ORPHA:86839
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia	ORPHA:75234
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia	OMIM:612526
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased circulating...	ORPHA:276
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, Hypoprote...	OMIM:615895
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating IgG level, Dysg...	OMIM:300291
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re...	ORPHA:572
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections	OMIM:608957
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro...	ORPHA:292
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Johanson-Blizzard Syndrome	Anemia, Hypoproteinemia	ORPHA:2315
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections	OMIM:619693
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Pneumocystis carinii pneumonia, Sepsis, Impaired memory B cell g...	OMIM:308230
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin...	OMIM:613673
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis...	OMIM:601495
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia	OMIM:608104
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Increased circul...	OMIM:243700
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent viral infections, Abnormal circulating IgM level, Recurrent bacterial infections, Incre...	OMIM:618048
Immunodeficiency 67	Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a...	OMIM:607676
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne...	ORPHA:540
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia	OMIM:617575
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529808
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529799
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infections, Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral in...	ORPHA:83471
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Leukocytosis, Lung abscess, Anemia, Liver abscess	ORPHA:67
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re...	ORPHA:247353
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly	OMIM:608776
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Lympho...	ORPHA:1667
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Specific Granule Deficiency 1	Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ...	OMIM:245480
Cholesteryl Ester Storage Disease	Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,...	OMIM:278000
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Immunodeficiency 12	Recurrent viral infections, Complete or near-complete absence of specific antibody response to te...	OMIM:615468
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper ...	OMIM:242150
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia	ORPHA:1655
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Recurrent viral infections, Recurrent enteroviral infections, De...	ORPHA:331206
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otitis media, P...	OMIM:307200
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi...	OMIM:605814
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Cog4-Cdg	Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ...	ORPHA:183675
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci...	ORPHA:88618
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Brain abscess, Severe viral infection, Hypocalcemia...	ORPHA:544482
Galactokinase Deficiency	Hepatosplenomegaly, Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma	ORPHA:79237
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Beta-Thalassemia	Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Selective Igm Deficiency	Recurrent bronchitis, Meningitis, Paraproteinemia, Recurrent sinusitis, Decreased circulating tot...	ORPHA:331235
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Steatorrhea	OMIM:602579
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia	OMIM:617303
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired ...	OMIM:613179
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co...	ORPHA:14
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Severe varicel...	OMIM:606367
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Decreased circulating renin level	OMIM:103900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f...	OMIM:251880
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Autoimmune hemolytic anemia, Decreased circulating...	ORPHA:37042
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir...	OMIM:619662
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Abscess, Elevated c...	ORPHA:36234
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Recurrent bacterial infections, Recurrent gram-negative bacter...	OMIM:116920
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc	OMIM:617093
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Anemia, Increased circulating NT-proBNP concentration	ORPHA:85443
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Recurrent viral infections, Intraalveolar phospholipid accumulation, Increased circulating IgE le...	OMIM:620565
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly	OMIM:611762
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Steatorrhea	OMIM:212065
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatosplenomegaly, Anemia, Hemolytic anemia	OMIM:619487
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes...	ORPHA:186
Immunodeficiency 23	Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf...	OMIM:615816
Congenital Generalized Lipodystrophy	Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia	ORPHA:528
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein c...	OMIM:607115
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233710
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig...	ORPHA:79240
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme con...	ORPHA:264580
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Hypocalcemia, Hyper...	OMIM:619991
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis	ORPHA:90065
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Increased cir...	OMIM:102700
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233690
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia	OMIM:615508
Alg12-Cdg	Hypoalbuminemia, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lymphocytopenia	ORPHA:79324
Acute Lung Injury	Sepsis, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor s...	ORPHA:178320
Specific Granule Deficiency 2	Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections	OMIM:617475
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Thro...	OMIM:222470
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hyperalaninemia	OMIM:618329
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	ORPHA:470
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru...	OMIM:617156
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis...	ORPHA:911
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Leukopenia, Abnor...	ORPHA:2298
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,...	ORPHA:412
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Decreased circulating total IgG, Recurrent urinary tract infections, ...	ORPHA:221139
Pgm3-Cdg	Bone marrow hypocellularity, Recurrent pneumonia, Recurrent viral infections, Sepsis, Recurrent r...	ORPHA:443811
Familial Cold Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:120100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia	ORPHA:505248
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio...	ORPHA:169090
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:2457
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Postinfectious Vasculitis	Recurrent mycobacterial infections, Severe varicella zoster infection, Invasive fungal infection,...	ORPHA:48435
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Anemia, Refractory anemia	ORPHA:79076
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Decreased platelet glycoprotein Ib	OMIM:603585
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Hereditary Chronic Pancreatitis	Elevated circulating C-reactive protein concentration, Leukocytosis	ORPHA:676
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration	OMIM:618886
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Increased circ...	OMIM:277900
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop...	OMIM:300972
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral...	ORPHA:79124
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening...	OMIM:610984
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Autosomal Dominant Severe Congenital Neutropenia	Recurrent viral infections, Recurrent infection of the gastrointestinal tract, Recurrent sinopulm...	ORPHA:486
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Hypokalemia, Decreased circulating renin level	OMIM:613677
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Liver abscess	ORPHA:69663
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Lysosomal Acid Lipase Deficiency	Xanthelasma, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells, Hyponatremia, Anemia, Hyp...	ORPHA:275761
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Decreased proportion of naive T cells, Spleno...	OMIM:619381
Congenital Disorder Of Glycosylation, Type Iiaa	Hypercholesterolemia, Hyperammonemia	OMIM:620454
Juvenile Polyposis Syndrome	Anemia, Hypoproteinemia, Brain abscess	ORPHA:2929
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in...	ORPHA:51636
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia	OMIM:244460
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:306400
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero...	ORPHA:231632
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane...	OMIM:242840
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	OMIM:614204
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia	ORPHA:90674
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia	OMIM:613658
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Kawasaki Disease	Elevated circulating C-reactive protein concentration, Thrombocytosis, Leukocytosis, Hypoalbuminemia	ORPHA:2331
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circulating C-...	ORPHA:457077
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:248500
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis	OMIM:618042
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Recurrent otitis media, Reduced natural killer cell activity, Impaired ADP-i...	OMIM:608233
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortiso...	ORPHA:231625
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Apparent Mineralocorticoid Excess	Hypokalemia, Abnormality of circulating cortisol level, Decreased circulating renin level	ORPHA:320
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Anemia, A...	ORPHA:79259
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231580
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Immunodeficiency 21	Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in...	OMIM:614172
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Increased proportion of CD4-positive T cel...	OMIM:617099
Mirage Syndrome	Sepsis, Recurrent urinary tract infections, Hyponatremia, Recurrent bacterial infections, Hyperka...	OMIM:617053
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Primary Sclerosing Cholangitis	Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly	ORPHA:171
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Lipodystrophy, Familial Partial, Type 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:151660
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Sp...	OMIM:270400
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Hypercholesterolemia, Calcinosis	OMIM:248370
Prader-Willi Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:176270
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level	OMIM:615474
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Lead Poisoning	Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester...	ORPHA:330015
Hypocomplementemic Urticarial Vasculitis	Recurrent bacterial infections, Meningitis	ORPHA:36412
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Chediak-Higashi Syndrome	Recurrent infections, Recurrent systemic pyogenic infections, Recurrent bacterial skin infections...	OMIM:214500
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Shwachman-Diamond Syndrome	Hypoamylasemia, Bone marrow hypocellularity, Recurrent viral infections, Sepsis, Increased serum ...	ORPHA:811
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, Neutropenia, Thrombocy...	OMIM:260400
Urachal Cyst	Elevated circulating C-reactive protein concentration, Leukocytosis, Abscess	ORPHA:488
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Sepsis, Recurrent bacterial infections, Hypokalemia, Severe cytomegal...	OMIM:619573
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Oculocerebrorenal Syndrome Of Lowe	Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammone...	ORPHA:534
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Recurre...	OMIM:612541
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,...	ORPHA:2968
Glycogen Storage Disease Ib	Recurrent bacterial infections, Hyperlipidemia, Hyperuricemia	OMIM:232220
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Eosinophilia, Splenomegaly	ORPHA:75565
Primary Ciliary Dyskinesia	Recurrent otitis media, Recurrent mycobacterial infections, Recurrent sinopulmonary infections	ORPHA:244
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy...	OMIM:309000
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Bone Marrow Failure Syndrome 3	Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac...	OMIM:617052
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level	ORPHA:90795
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:147060
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level	OMIM:202010
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De...	ORPHA:90793
Alagille Syndrome 1	Hypercholesterolemia, Hypertriglyceridemia	OMIM:118450
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Sickle Cell Disease	Recurrent bacterial infections	OMIM:603903
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia	OMIM:606721
Cystic Fibrosis	Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci...	ORPHA:586
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:391665
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Pmm2-Cdg	Hypoalbuminemia, Impaired neutrophil chemotaxis, Reduced thyroxin-binding globulin	ORPHA:79318
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections	ORPHA:2273
Alkaptonuria	Methemoglobinemia, Hemolytic anemia	ORPHA:56
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s...	OMIM:201750
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections	ORPHA:642

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 Snx8

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 Snx8.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)

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Gene: Snx8 MGI:2443816

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Anti-nuclear antibody assay

DSS Histology

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X-ray

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Snx8 mutations

Histopathology

IMPC related publications