Gene Summary

Name:
meteorin, glial cell differentiation regulator-like
Synonyms:
9430048M07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood vessel N/A heterozygote 0.0% (0 of 3)
Bone N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote 0.0% (0 of 3)
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote 0.0% (0 of 3)
Cerebellum N/A heterozygote 0.0% (0 of 3)
Cerebral cortex N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Hippocampus N/A heterozygote 0.0% (0 of 3)
Hypothalamus N/A heterozygote 0.0% (0 of 3)
Kidney N/A heterozygote 0.0% (0 of 3)
Large intestine N/A heterozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Lower urinary tract N/A heterozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote 0.0% (0 of 3)
Mammary gland N/A heterozygote 0.0% (0 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parathyroid gland N/A heterozygote 0.0% (0 of 3)
Peripheral nervous system N/A heterozygote 0.0% (0 of 3)
Peyer's patch N/A heterozygote 0.0% (0 of 3)
Pituitary gland N/A heterozygote 0.0% (0 of 3)
Prostate gland N/A heterozygote 0.0% (0 of 3)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote 0.0% (0 of 3)
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach N/A heterozygote 0.0% (0 of 3)
Striatum N/A heterozygote 0.0% (0 of 3)
Testis N/A heterozygote 66.67% (2 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Thyroid gland N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote 0.0% (0 of 3)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Legacy Phenotype Associated Images

View all 67 images

Human diseases caused by Metrnl mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Complement Component 4B Deficiency
Chronic active hepatitis, Decreased serum complement C4b OMIM:614379
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Complement Component C1S Deficiency
Abnormality of complement system, Hashimoto thyroiditis, Hepatitis OMIM:613783
Complement Component C1R/C1S Deficiency
Complement deficiency, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:606843
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... OMIM:613494
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Systemic Lupus Erythematosus 16
Nephritis OMIM:614420
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Bronchiectasis, Splenomegaly, Increased circulati... OMIM:615513
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... OMIM:618944
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Recurrent otitis media, Increased circulating IgG level... OMIM:619220
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating... OMIM:300635
Immunodeficiency, Common Variable, 3
Reduced isohemagglutinin level, Decreased circulating IgA level, Recurrent otitis media, Decrease... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Dec... OMIM:308230
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulatin... OMIM:308240
Halothane Hepatitis
Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Renal insufficiency OMIM:162000
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Hepati... ORPHA:169160
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... OMIM:617765
Immunodeficiency 64
Defective T cell proliferation, Bronchiectasis, Increased circulating IgA level, Decreased circul... OMIM:618534
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis, Decreased circulating total IgM OMIM:242850
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Reduced natural kil... OMIM:300400
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Hematuria OMIM:314000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... OMIM:617241
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Increased... OMIM:618495
Immunodeficiency 50
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level OMIM:300988
Immunodeficiency 27A
Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Splenomegaly, Increased inf... OMIM:209950
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Recurrent pneumonia OMIM:613500
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Schnitzler Syndrome
Hepatomegaly, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash ORPHA:37748
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Immunodeficiency 56
Cholangitis, Bronchiectasis, Recurrent otitis media, Cirrhosis, Panhypogammaglobulinemia, Recurre... OMIM:615207
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Nephrotic syndrome, Monoclonal immunoglobulin M proteinemia, Nephr... ORPHA:91139
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Decreased circulating IgA level, Bronchiectasi... OMIM:607594
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased circulating total IgM, Decreased specific antibody res... OMIM:616452
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p... OMIM:613812
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Splenomegaly ORPHA:444463
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd... OMIM:617006
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Decreased circulating total IgM, Splenomegaly OMIM:606445
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... ORPHA:567544
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgG le... OMIM:618982
Complement Factor I Deficiency
Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Decreased... OMIM:610984
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ... OMIM:618969
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema, Skin r... ORPHA:83313
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Biliary tract abnormality, Cutaneous an... OMIM:209920
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Nephrotic syndrome, Decreased lymphocyte apoptosis, Increased circulating IgA level... OMIM:603909
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Bronchiectasis, Chronic otitis media, Hepatitis, Arthritis, Osteom... ORPHA:33110
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media OMIM:616941
Transcobalamin Deficiency
Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG level, Decreas... ORPHA:859
Lymphoid System Deterioration, Progressive
Decreased circulating IgG level, Decreased circulating total IgM OMIM:247630
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... OMIM:613496
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Decreased circulating IgA level, Bronchiectasis, Decrease... OMIM:240500
C3 Glomerulopathy
Nephrotic syndrome, Decreased serum complement C4, Hematuria, Stage 5 chronic kidney disease, Mes... ORPHA:329918
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulat... OMIM:601859
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Decreased circulating IgA level, Reduced natural killer cell... OMIM:619281
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia OMIM:312863
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Inflammation of the large intes... OMIM:615767
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Circulating immune complexes, Anterior uveitis, Panuveitis, Uveitis, Gl... OMIM:607665
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency ORPHA:3327
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... ORPHA:186
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6, Hepatitis, Splenomegaly, Increased inflammator... ORPHA:158061
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Cryoglobulinemia, Hematuria, Arthritis, Circulating imm... ORPHA:91138
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi... ORPHA:70593
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, D... OMIM:616100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Nephrotic syndrome, Decreased serum complement C4, Reduced natural killer cell acti... OMIM:615559
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Fechtner syndrome
Menorrhagia, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:153640
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Heme Oxygenase 1 Deficiency
Hepatomegaly, Increased circulating interleukin 6, Asplenia, Hematuria, Nephritis, Elevated circu... OMIM:614034
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Arthritis, Acute hepatitis, Splenome... ORPHA:905
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM ... OMIM:242860
Lassa Fever
Spontaneous abortion, Menometrorrhagia, Jaundice, Oliguria, Increased circulating IgM level, Conj... ORPHA:99824
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis OMIM:612692
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otitis media, Hepat... ORPHA:47
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Agammaglobulinemia, Recurrent pneumonia, Recurrent otitis media OMIM:613502
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Liv... ORPHA:183675
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Peritonitis, Hepatocellular ... ORPHA:139507
Myh9-Related Disease
Menorrhagia, Nephritis, Nephropathy, Elevated hepatic transaminase, Proteinuria, Renal insufficiency ORPHA:182050
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Xanthinuria, Type I
Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Reduced xanthine dehydrogenase level, X... OMIM:278300
Pulmonary Nodular Lymphoid Hyperplasia, Familial
IgA deposition in the glomerulus, Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Nephritis, Stage 5 chronic kidney disease OMIM:609057
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron... OMIM:203780
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Increased circulating antibody level, Nephro... ORPHA:100024
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Portal fibrosis, Nephronophthisis, Stage 5 c... OMIM:615862
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Hashimoto thyr... OMIM:618549
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent otitis media,... ORPHA:277
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... ORPHA:2442
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Hepatitis, Arthritis, Increased circulating IgE level, Glomerulonephritis OMIM:304790
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Cholestatic liver disease, Nephro... OMIM:613404
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Nephritis, Arthritis, Malar rash OMIM:152700
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Malar rash, Increased circulating antib... ORPHA:90280
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid... OMIM:307200
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Hepatic failure, Ele... OMIM:607765
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Zika Virus Disease
Infectious encephalitis, Spontaneous abortion, Arthritis, Increased circulating IgM level, Maculo... ORPHA:448237
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Increased circulating antibody... OMIM:615846
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Renal dysplasia, Nephritis, Pyelonephritis, Unilateral renal atrophy OMIM:314300
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Arthritis, Splen... ORPHA:829
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Lack of T cell function, Rhinitis, Sclerosing cholangitis, Decreased circulating antib... ORPHA:572
Immunodeficiency 37
Decreased circulating antibody level, Infectious encephalitis, Colitis OMIM:616098
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Stage 5 chronic kidney disease, Glycos... OMIM:614817
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Ulcerative colitis, Decreased circulat... OMIM:614878
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Skin rash OMIM:618048
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Agammaglobulinemia, Pneumonia, Bronchiectasis, Decreased circulating antibody level, R... OMIM:601495
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Panniculitis, Increased circulating IgM level, Skin rash OMIM:617099
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Griscelli Syndrome
Hepatomegaly, Hepatitis, Decreased circulating antibody level, Bone marrow hypocellularity, Splen... ORPHA:381
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decrease... OMIM:301045
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Rift Valley Fever
Infectious encephalitis, Hematuria, Hepatitis, Spontaneous abortion, Increased circulating IgG le... ORPHA:319251
Legionnaires Disease
Myocarditis, Infectious encephalitis, Pericarditis, Endocarditis, Hematuria, Hepatitis, Bone marr... ORPHA:549
Immunodeficiency 92
Cholangitis, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619652
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Reduced sperm motility, Decreased glomerular filtration rate, Hematuria, Pyelon... ORPHA:730
Immunodeficiency 23
Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgG level, Chronic mucocutaneous... OMIM:615816
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Thyrocerebroretinal Syndrome
Nephritis OMIM:274240
Porphyria Cutanea Tarda
Viral hepatitis, Abnormal erythrocyte enzyme level, Elevated hepatic iron concentration, Hepatoce... ORPHA:101330
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Cryoglobulinemia, Pneumonia, En... ORPHA:781
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... OMIM:104200
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Aspergillosis
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... ORPHA:1163
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Renal tubular acidosis, Cholestatic liver disease, Nephro... OMIM:208085
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Hepatitis, Colitis OMIM:614602
Melioidosis
Abnormality of the spleen, Splenic abscess, Pneumonia, Prostatitis, Hepatitis, Septic arthritis, ... ORPHA:31202
Pediatric Systemic Lupus Erythematosus
Nephrotic syndrome, Myositis, Abnormality of the urinary system, Decreased serum complement C4, D... ORPHA:93552
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... OMIM:616576
Brucellosis
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Liver abscess, P... ORPHA:1304
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... OMIM:615577
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Chronic otitis media, Increased circulating IgE level, Recurrent ba... ORPHA:217390
Wilson Disease
Hyperphosphaturia, Hepatomegaly, Renal tubular dysfunction, Aminoaciduria, Hepatocellular carcino... OMIM:277900
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Interface hepatitis, Elevated seru... OMIM:611182
Autoimmune Lymphoproliferative Syndrome
Recurrent aphthous stomatitis, Hepatitis, Splenomegaly, Gastritis, Hypersplenism, Uveitis, Abnorm... ORPHA:3261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... ORPHA:37042
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Otiti... ORPHA:275
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Increased circulating antibody level, Splenomegaly OMIM:615285
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level OMIM:618523
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... ORPHA:39812
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG level, De... ORPHA:331206
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Increased circu... OMIM:619632
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, Decreased circulating IgA leve... OMIM:215250
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Aplasia/Hypoplasia ... ORPHA:227990
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice OMIM:194380
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Increased circulating IgG1 level, Inflammat... ORPHA:449395
Ebola Hemorrhagic Fever
Increased circulating antibody level, Hepatitis, Acute pancreatitis, Maculopapular exanthema ORPHA:319218
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Pneumonia, Decreased circulating IgA level, Abnormal immunoglobulin level, Decrease... ORPHA:276
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... OMIM:147060
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Cryoglobulinemia, Pneumonia, Increa... ORPHA:48435
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Tubulointerstitial nephritis, Nephritis, Hepatic steatosi... OMIM:203800
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Atrophic gastritis, Aplasia/Hypoplasia ... ORPHA:227982
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Hypogonadism, Abnormal enzyme/co... ORPHA:79095
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... OMIM:618108
Dyschondrosteosis And Nephritis
Nephritis OMIM:127350
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hepatitis ORPHA:199296
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Infectious encephalitis, Pneumonia, Peritonitis, Myositis, Fasciitis, Hep... ORPHA:36234
Retinal Venous Beading
Nephritis OMIM:180080
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Decreased circulating IgA level, Hepatitis, Splenomegaly, Hypersplenism, Hashimoto ... OMIM:613385
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hydronephrosis, Increased hepatic glycogen content, Elevated hepatic transaminase, ... OMIM:614921
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peri... ORPHA:228123
Igg4-Related Aortitis
Hydronephrosis, Increased circulating IgG4 level, Complement deficiency, Increased circulating Ig... ORPHA:449400
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Isolated Sedoheptulokinase Deficiency
Hepatitis, Cholestatic liver disease, Abnormal renal tubule morphology, Cholestasis, Portal hyper... ORPHA:440713
Microsporidiosis
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Abnormality of the urinary system physiology, Inf... ORPHA:2552
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephritis, Stage 5 chronic kidney d... OMIM:301050
Avian Influenza
Infectious encephalitis, Pneumonia, Hepatitis, Spontaneous abortion, Acute kidney injury, Increas... ORPHA:454836
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Pneumonia, Chronic otitis media, Chronic oral candidiasis, Decr... ORPHA:83471
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,... OMIM:616629
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgM level, Increased circulating IgG level... ORPHA:74
Chronic Mucocutaneous Candidiasis
Cheilitis, Hematuria, Hepatitis, Dyspareunia, Recurrent urinary tract infections, Skin rash ORPHA:1334
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Decreased specific antibody response to vaccination, Pneumon... OMIM:614700
Lichen Planopilaris
Hepatitis ORPHA:525
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Pustule, Lack of T cell function, Decreased circulating IgG level, Partial IgA deficiency, Decrea... ORPHA:35078
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Biliary tract obstruction... ORPHA:400
Relapsing Polychondritis
Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hematuria, Hepatitis, A... ORPHA:728
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Decreased circulating antibody level, Parotitis, Optic neuritis, Cr... ORPHA:289390
Tularemia
Pneumonia, Increased circulating antibody level, Otitis media, Inflammatory abnormality of the ey... ORPHA:3392
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Prolidase Deficiency
Hepatomegaly, Eczema, Splenomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:170100
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Cirrhosis, Chronic hepatitis, Keratoconju... OMIM:269200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced red cell adenosine d... OMIM:102700
Congenital Enterovirus Infection
Myocarditis, Infectious encephalitis, Hepatitis, Skin rash, Cholestasis, Hepatic failure ORPHA:292
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Acute hepatitis OMIM:238970
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... OMIM:617388
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Decreased circulating IgG level, Bone marrow hypocellulari... ORPHA:505248
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Hepatitis, Cirrhosis, Hepatosplenomegaly, Thyroiditis, Hypersplenism, Acute hepatic ... ORPHA:228426
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... OMIM:600903
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in response to ... ORPHA:169154
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Tubulointerstitial nephritis, Elevated gamma-glutamyltransferase level, Hepatic ste... OMIM:614582
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM ORPHA:2643
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, Parotitis, C... ORPHA:449427
Leishmaniasis
Hepatomegaly, Rhinitis, Splenomegaly, Increased circulating antibody level, Elevated hepatic tran... ORPHA:507
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis OMIM:243150
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Asplenia, Nephrocalcinosis, Chronic oral candidiasis, Cholelithiasis, C... OMIM:240300
Myasthenia Gravis
Myositis, Hepatitis, Glycosuria, Rheumatoid arthritis, Hashimoto thyroiditis ORPHA:589
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myositis, Increased circulating IgA lev... ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Panniculitis, Arthritis, Splenomegaly, Increased circulating a... OMIM:617591
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Splenomegaly, Decreased lymphocyte apoptosis OMIM:614470
Plasminogen Deficiency, Type I
Periodontitis, Nephritis, Nephrolithiasis, Conjunctivitis OMIM:217090
Immunodeficiency 47
Hepatomegaly, Decreased circulating total IgA, Hepatic fibrosis, Decreased circulating total IgG,... OMIM:300972
Mccune-Albright Syndrome
Hyperphosphaturia, Renal tubular dysfunction, Hepatitis, Bone marrow hypocellularity, Pancreatiti... ORPHA:562
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hepatomegaly, Hematuria, Epididymitis, Increased circulating IgG level, Parotitis, S... ORPHA:99827
Netherton Syndrome
Eczema, Hydronephrosis, Erythroderma, Decreased circulating antibody level, Increased circulating... ORPHA:634
Spondyloenchondrodysplasia
Pneumonia, Hematuria, Hepatitis, Arthritis, Juvenile rheumatoid arthritis, Skin rash, Chronic kid... ORPHA:1855
Selective Igm Deficiency
Non-infectious meningitis, Fasciitis, Crohn's disease, Decreased circulating total IgM, Allergic ... ORPHA:331235
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Immunodeficiency 67
Increased circulating IgE level, Liver abscess OMIM:607676
Yellow Fever
Increased circulating interleukin 6, Anuria, Elevated circulating aspartate aminotransferase conc... ORPHA:99829
Insulin-Resistance Syndrome Type B
Pneumonia, Increased circulating IgA level, Nephritis, Decreased serum complement factor B, Incre... ORPHA:2298
Kimura Disease
Increased circulating IgE level ORPHA:482
Myotonic Dystrophy 2
Oligospermia, Decreased circulating IgG level, Hypogonadism, Decreased circulating total IgM OMIM:602668
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Myoglobinuria, Tubulointerstitial nephritis, Red-brown urine, Stage 5 chronic kidney disease, Ren... ORPHA:228302
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgG level, Increased circulating IgM l... ORPHA:297
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgA, Decreased circulating total IgG, Pneumonia, Bronchiectasis, Hepa... OMIM:619381
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Retroperitoneal fibrosis, Increased circulating IgG4 level, Increased c... ORPHA:449432
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Decreased circulating IgA level, Chronic oral cand... OMIM:606367
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Allergic rhinitis, Erythroderma OMIM:256500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Bronchiectasis, Renovascul... ORPHA:391487
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Pancreatic cysts, Bile duct proliferation, Nephritis, Renal cyst, Polycystic li... OMIM:208500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Bloom Syndrome
Bronchiectasis, Decreased circulating IgA level, Azoospermia, Decreased circulating IgG level, Ma... OMIM:210900
Pneumocystosis
Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating lactate dehydrogenase c... ORPHA:723
Listeriosis
Myocarditis, Infectious encephalitis, Pericarditis, Pustule, Pneumonia, Endocarditis, Peritonitis... ORPHA:533
Sjogren Syndrome
Keratoconjunctivitis sicca, Rheumatoid arthritis, Tubulointerstitial nephritis OMIM:270150
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Hepatitis, Splenomegaly ORPHA:584
Zygomycosis
Sinusitis, Myocarditis, Pericarditis, Infectious encephalitis, Pustule, Endocarditis, Peritonitis... ORPHA:73263
Japanese Encephalitis
Infectious encephalitis, Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Hyper-Igd Syndrome
Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis, Arthritis, Splenomegaly... OMIM:260920
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Arthritis, Recurrent aphthous stomatitis ORPHA:343
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Infertility, Tubulointerstitial nephritis, Renal tubular... ORPHA:330015
Hardikar Syndrome
Cholangitis, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Hypop... OMIM:301068
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Renal cyst, Ab... ORPHA:284
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndro... ORPHA:85450
Vulvovaginitis, Allergic Seminal
Vaginitis OMIM:193450
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Decreased circulating antibody level, Exocrine pancreatic insuff... ORPHA:586
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Eczema OMIM:313900
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Nephrotic syndrome, Decreased circulating IgA level, Proximal tub... OMIM:212065
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Methylmalonic aciduria, Decreased circulating IgG level, Decreas... OMIM:275350
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Psoriasiform dermatitis, Decreased circulating total IgA, Decreased specific antibody response to... ORPHA:221139
Pgm3-Cdg
Atopic dermatitis, Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgA level, Ch... ORPHA:443811
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Kawasaki Disease
Myocarditis, Pericarditis, Cheilitis, Sterile pyuria, Hepatitis, Arthritis, Jaundice, Skin rash, ... ORPHA:2331
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Dominant Beta-Thalassemia
Hepatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hyperspl... ORPHA:231226
Gaucher Disease Type 1
Hepatomegaly, Biliary tract obstruction, Hematuria, Splenomegaly, Cirrhosis, Increased circulatin... ORPHA:77259
Hand-Foot-Genital Syndrome
Hypospadias, Chordee, Pyelonephritis, Micropenis, Ureteropelvic junction obstruction, Vesicourete... OMIM:140000
Sting-Associated Vasculopathy, Infantile-Onset
Pustule, Myositis, Increased circulating IgA level, Increased circulating IgG level, Malar rash, ... OMIM:615934
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Urban-Rogers-Meyer Syndrome
Hypogonadism, Increased circulating IgE level, Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Oroticaciduria, Hepatitis, Decreased liver function, Hepatic failure, Elevated hepa... ORPHA:415
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic aciduria, Stage 5 chronic kidney diseas... OMIM:251000
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Rec... OMIM:612301
Gaucher Disease
Hepatomegaly, Hematuria, Hepatitis, Osteomyelitis, Splenomegaly, Cirrhosis, Increased circulating... ORPHA:355
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Xq28 (MECP2) duplication
Decreased circulating IgA level, Functional abnormality of the bladder DECIPHER:45
Caffey Disease
Increased circulating antibody level ORPHA:1310
Birk-Landau-Perez Syndrome
Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal insufficiency OMIM:617595
Bloom Syndrome
Oligospermia, Pneumonia, Azoospermia, Decreased circulating IgA level, Cheilitis, Decreased circu... ORPHA:125
Acute Disseminated Encephalomyelitis
Herpes simplex encephalitis, Viral hepatitis, Myelitis, Optic neuritis ORPHA:83597
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Nephritis, Arthritis, Stage 5 chronic kidney disease, Proteinuria,... ORPHA:2614
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... ORPHA:420741
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Nephritis, Vesicoureteral reflux, Renal insuff... ORPHA:391641
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Waldenström Macroglobulinemia
Hepatomegaly, Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Renal insu... ORPHA:33226
Leukocyte Adhesion Deficiency
Sinusitis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Impaired platelet aggregatio... ORPHA:2968
Leptospirosis
Hepatomegaly, Pericarditis, Elevated serum transaminases during infections, Hepatitis, Optic neur... ORPHA:509
Late-Onset Isolated Acth Deficiency
Hashimoto thyroiditis, Hepatitis, Premature ovarian insufficiency ORPHA:199299
Ataxia-Telangiectasia
Sinusitis, Bronchiectasis, Decreased circulating IgA level, Defective B cell differentiation, Dec... OMIM:208900
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level ORPHA:2902
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Osteomyelitis, Increased circulating IgE level, Skin rash ORPHA:2314
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Peritonitis, Anuria, Megacystis, Fetal megacystis, Pyelonephritis OMIM:619351
Al Amyloidosis
Hepatomegaly, Nephrotic syndrome, Abnormality of the liver, Renal interstitial amyloid deposits, ... ORPHA:85443
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Decreased circulating antibody level, Increa... ORPHA:29073
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Increased circulating IgA level, Recurrent otitis me... OMIM:301000
Alg12-Cdg
Hypospadias, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... ORPHA:79324
Lichtenstein Syndrome
Decreased circulating IgA level OMIM:246550
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Portal fibrosis, Arthrit... ORPHA:3260
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Peritoneal abscess, Hepatitis, Abnormality of the ductus choledochus, Ha... ORPHA:436252
Tempi Syndrome
Abnormality of the kidney, Increased circulating IgG level ORPHA:284227
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Tubulointerstitial nephritis, Endocarditis, Myositis, Hematuria, Arthriti... ORPHA:183
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:157
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Microscopic hematuria, Mild p... ORPHA:91500
Mevalonic Aciduria
Fluctuating splenomegaly, Fluctuating hepatomegaly, Hepatosplenomegaly, Increased circulating lac... OMIM:610377
Hypoplasminogenemia
Periodontitis, Cervicitis, Nephrolithiasis ORPHA:722
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... ORPHA:255249
Acute Liver Failure
Hepatocellular necrosis, Hepatitis, Hepatic necrosis, Acute kidney injury, Skin rash, Elevated he... ORPHA:90062
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Glomerular sclerosis, Renal interstitial amyloid deposits, Par... ORPHA:439232
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:228308
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Lymphedema-Distichiasis Syndrome
Tubulointerstitial nephritis, Renal duplication, Recurrent urinary tract infections, Recurrent sk... ORPHA:33001
Mogs-Cdg
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... ORPHA:79330
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Tubulointerstitial nephritis, Decreased liver func... OMIM:124000
Igg4-Related Thyroid Disease
Retroperitoneal fibrosis, Increased circulating IgG4 level, Thyroiditis, Hashimoto thyroiditis, P... ORPHA:64744
Celiac Disease, Susceptibility To, 1
Eczema, Infertility, Stomatitis, Decreased circulating IgA level, Thyroiditis, Elevated hepatic t... OMIM:212750
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Eosinophilic infiltration of the... OMIM:618213
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Pyelonephritis, Duplication of renal pelvis, Recurrent urinary tract infect... ORPHA:2036
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Prostatitis, Retroperitoneal fibrosis, Increased circulating IgG4 level, ... ORPHA:449563
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Decreased circulating IgA level, Decreased circulating antibody level,... ORPHA:90363
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Renal hypoplasia, Renal agenesis, Pyelonephritis OMIM:181270
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Recurrent urinary tract infections, Urethral diverticulum, Multiple bladder diver... ORPHA:90349
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Horseshoe kidney, Hepatomegaly, Decreased circulating IgG level, Decreased lymphocyte proliferati... ORPHA:508533
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6, Episcleritis, Increased circulating IgA level,... OMIM:256040
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... ORPHA:488627
Occipital Horn Syndrome
Hepatitis, Esophagitis, Recurrent urinary tract infections, Cholestasis, Bladder diverticulum, Ja... ORPHA:198
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Decreased circulating IgA level, Renal dysplasia, Congenital megaureter, Abnorm... ORPHA:369837
Lujo Hemorrhagic Fever
Myocarditis, Rhinitis, Fulminant hepatitis, Microscopic hematuria, Oliguria, Increased circulatin... ORPHA:319213
Vaginal Atresia
Cervicitis, Primary amenorrhea ORPHA:65681
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6, Tubulointerstitial nephritis, Decreased urine output, Pneumo... ORPHA:340
Intermediate Uveitis
Optic neuritis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Anterior uveitis ORPHA:279914
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis, Elevated hepatic ... OMIM:613327
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Inflammation of the large intestine, Bronchiectasis, Arthritis, Splenomegaly, Incre... OMIM:181000
Alström Syndrome
Oligospermia, Hepatitis, Splenomegaly, Micropenis, Hepatosplenomegaly, Chronic kidney disease, Po... ORPHA:64
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Hypospadias ORPHA:457485
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney ORPHA:459061
Congenital Analbuminemia
Increased circulating antibody level, Spontaneous abortion ORPHA:86816
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Eczema, Hydronephrosis, Pancreatic hypoplasia, Superficial dermal perivascular infl... ORPHA:83617
Dubowitz Syndrome
Hypospadias, Eczema, Decreased circulating IgA level, Decreased circulating IgG level, Otitis media OMIM:223370
Encephalitis Lethargica
Urinary incontinence, Increased circulating antibody level ORPHA:83600
Gaucher Disease Type 3
Hepatomegaly, Hematuria, Splenomegaly, Increased circulating antibody level, Proteinuria ORPHA:77261
Scleromyxedema
Paraproteinemia, Abnormality of the kidney ORPHA:167635
Marburg Hemorrhagic Fever
Pericarditis, Arthritis, Pancreatitis, Increased circulating antibody level, Uveitis, Maculopapul... ORPHA:99826
Cysticercosis
Increased circulating antibody level, Infectious encephalitis, Iridocyclitis ORPHA:1560
Poems Syndrome
Hypogonadism, Increased circulating antibody level, Erectile dysfunction ORPHA:2905
Trichinellosis
Increased circulating IgE level, Skin rash, Conjunctivitis ORPHA:863
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Bronchiectasis ORPHA:90348
Simpson-Golabi-Behmel Syndrome
Hypospadias, Hepatomegaly, Ureteral duplication, Hydronephrosis, Hydroureter, Polysplenia, Hepato... ORPHA:373
Cocaine Intoxication
Tubulointerstitial nephritis, Hematuria, Acute kidney injury, Proteinuria, Increased circulating ... ORPHA:90068
Cranioectodermal Dysplasia 1
Hepatomegaly, Tubulointerstitial nephritis, Hepatic fibrosis, Malformation of the hepatic ductal ... OMIM:218330
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level OMIM:208910
Gitelman Syndrome
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Renal t... ORPHA:358
Monosomy 18Q
Decreased circulating IgA level, Micropenis ORPHA:1600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Sarcoidosis
Keratoconjunctivitis sicca, Hepatomegaly, Tubulointerstitial nephritis, Bronchiectasis, Nephrocal... ORPHA:797
Viss Syndrome
Atopic dermatitis, Eczema, Hydronephrosis, Decreased circulating IgA level, Increased circulating... OMIM:619472

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 Metrnl

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 Metrnl.

There are 6 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)