Gene Summary

Name:
coagulation factor II (thrombin) receptor-like 1
Synonyms:
Gpcr11,  PAR-2,  Protease-activated receptor-2,  Par2,  proteinase-activated receptor-2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex F2rl1tm1b(EUCOMM)Wtsi HOM Early adult 1.78×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Brain  Section images heterozygote Ambiguous
Brainstem  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote Ambiguous
Trachea  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 563)
aorta 0.18% (1 of 567)
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
epididymis 13.49% (17 of 126)
esophagus 1.54% (6 of 390)
eye 0.0%
heart 0.36% (2 of 557)
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 563)
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
striatum 0.54% (3 of 556)
submandibular gland 0.83% (1 of 121)
testis 1.08% (6 of 557)
thalamus 0.0%
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.05% (4 of 382)
dorsal root ganglion 2.08% (1 of 48)
ear 0.25% (1 of 395)
embryo 0.0%
eye 0.27% (1 of 375)
footplate 0.26% (1 of 378)
forebrain 0.26% (1 of 388)
forelimb 0.28% (1 of 358)
fronto-nasal process 0.0%
handplate 0.0%
head 1.05% (4 of 381)
heart 0.0%
hindbrain 1.37% (5 of 365)
hindlimb 0.26% (1 of 384)
liver 0.27% (1 of 377)
lung 0.27% (1 of 369)
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.27% (1 of 365)
nose 1.64% (1 of 61)
oral cavity 0.26% (1 of 379)
skin 0.0%
spinal cord 1.75% (1 of 57)
tail 0.27% (1 of 370)
tail somite group 0.27% (1 of 368)

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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

14 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Sleep Wake

Wake state (bmp file)

11 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by F2rl1 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 F2rl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Lichen Amyloidosis
Pruritus ORPHA:49804
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Immunodeficiency 11
Pneumonia, Decreased circulating antibody level OMIM:615206
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Arthritis, Sacroiliac
Pruritus OMIM:108100
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
Immunodeficiency, Common Variable, 6
Enlarged kidney, Chronic decreased circulating total IgG, Complete or near-complete absence of sp... OMIM:613496
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... OMIM:615008
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Decreased specific pneumococca... OMIM:617006
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Halothane Hepatitis
Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Proteinuria, Diabetes mellitus, Membranoproliferative glomerulonep... OMIM:608709
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Abnormal glomerular mesangium morphology, Proteinuria, G... ORPHA:567544
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus OMIM:146750
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Hepatomegaly, Jaundice ORPHA:60
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Hematuria OMIM:314000
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Nephrotic syndrome, Proteinuria OMIM:617609
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Recurrent skin infections, Erythema nodosum, Coliti... OMIM:300635
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Osteoarthritis Susceptibility 3
Osteoarthritis, Joint stiffness, Osteoarthritis of the distal interphalangeal joint, Osteoarthrit... OMIM:607850
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:612692
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:619707
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Pyknoachondrogenesis
Stillbirth OMIM:265880
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Chylous Ascites
Pancreatitis ORPHA:1160
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus OMIM:617920
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
C3 Glomerulopathy
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Paraproteinemia, Mesangial hyperc... ORPHA:329918
C1Q Deficiency
Membranoproliferative glomerulonephritis OMIM:613652
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... OMIM:300400
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Bronchiectasis, Herpes simplex encephali... OMIM:618982
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Increased circulating IgE level, Inflammation o... OMIM:615767
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Glomerulonephritis, Anterior uveitis, Panuveitis, Re... OMIM:607665
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgG level, Complete or near-complete absence of specif... OMIM:610163
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Chronic active hepatitis OMIM:614379
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... ORPHA:158061
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Elevated circulating alanine aminotransferase concentration, Nephrotic sy... OMIM:615559
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia OMIM:616941
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis, Renal steatosis OMIM:261650
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Hepatomegaly, Pancreatitis OMIM:243300
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Pancreatitis, Hepat... OMIM:600803
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Cirrhosis, Glomerulonep... ORPHA:2137
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus OMIM:131850
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Galloway-Mowat Syndrome 2, X-Linked
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Polymicrog... OMIM:301006
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Foamy urine, Stage... ORPHA:656
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent otitis media, Recurrent pneumonia, Lack of T cell function, Inflammatory abn... ORPHA:277
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carc... ORPHA:65682
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level OMIM:312863
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Nephrotic syndrome, Eosinophilic liver infiltration, Colonic eosinophilia, Me... OMIM:618999
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Keratoconjunctivitis sicca, Pa... OMIM:260480
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Dec... ORPHA:70593
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased circulating ... OMIM:618969
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Increased circulating IgE level OMIM:212050
Immunodeficiency 56
Recurrent otitis media, Hepatic failure, Recurrent pneumonia, Cholangitis, Bronchiectasis, Recurr... OMIM:615207
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Congenital Bile Acid Synthesis Defect Type 2
Increased circulating lactate dehydrogenase concentration, Hepatic failure, Hepatic steatosis, Ch... ORPHA:79303
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, R... OMIM:616730
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Peritonitis, Abnormal glomerular v... ORPHA:567548
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Eczema, Reduced d... OMIM:617241
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Arthritis, Glomerulonephritis, Eczema, Erythroderma, Hepatitis, Increas... OMIM:304790
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis, Increased circulating IgE level OMIM:618985
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Reduced na... OMIM:619281
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... OMIM:619752
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fu... OMIM:618549
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent pneumonia, Pneumonia, Hepatosplenomegaly, Increased ci... ORPHA:169160
Cystic Echinococcosis
Renal cyst, Abnormality of the pancreas, Biliary tract obstruction, Hepatomegaly, Jaundice, Incre... ORPHA:400
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Chronic pancreatitis OMIM:608189
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Pancreatitis OMIM:619386
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:859
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Nephrotic syndrome, Hepatosplenomegaly, Hemolytic-uremic syndrome, Maculopap... OMIM:619644
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity OMIM:616414
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Hepatomegaly, Pancreatitis OMIM:618805
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Kimura Disease
Increased circulating IgE level ORPHA:482
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Hepati... ORPHA:905
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, E... OMIM:618348
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Recurrent sinusitis, Atopic dermatitis, Chronic otitis media, Recurrent bacterial skin... ORPHA:217390
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... ORPHA:101330
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Thyroiditis, Glomerulonephritis, Splenomegaly, Hepatomegaly OMIM:619375
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis OMIM:167800
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Portal inflammation, Pancreatitis, Hepatocellular carcinoma, Ballooning hepato... OMIM:603471
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Agammaglobulinemia, Arthritis, Bronchiectasis, Osteomyeliti... ORPHA:33110
Systemic Lupus Erythematosus
Lupus nephritis, Malar rash, Nephritis, Pericarditis, Arthritis OMIM:152700
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Elevated circulating C-reactive protein concentration, ... ORPHA:829
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Generalized morning stiffness, Constrictive pericarditis, Arthritis, Arthropathy, Wrist flexion c... OMIM:208250
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent otitis media, Bronchiectasis, Eczema, Keratitis, Increased circulating IgE level OMIM:618523
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Cirr... ORPHA:562639
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Prostatitis, Arteritis, Membranous nephropathy, Renal interstitial i... ORPHA:449395
Trichohepatoenteric Syndrome 2
Decreased serum iron, Colitis, Hepatomegaly, Hepatitis, Cirrhosis OMIM:614602
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Viral hepatitis, Monoclonal immunoglobulin M proteinemia, Nephrotic ... ORPHA:91139
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Interface hepatitis, Elevated circulating asp... OMIM:611182
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Eczematoid dermatitis,... OMIM:147060
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Gastrointestinal inflammation, Increased... ORPHA:186
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Sclerosing cholangitis, Decreased circulating IgE, Increased cir... OMIM:308230
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Renal hypoplasia, Glomerulonephritis, Hepatomegaly, Chronic tubulointerstitial nephr... OMIM:614376
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:194380
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Increased circulating IgA level, Bronchiectasis... OMIM:619632
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Arthritis, Parotitis, Maculopapular exanthema, Endocarditis, Myo... ORPHA:31205
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Crohn's disease, Decreased circulating IgG level, Decreased circ... OMIM:618394
Hemochromatosis, Type 4
Hepatic steatosis, Osteoarthritis, Hepatomegaly, Diabetes mellitus, Cirrhosis, Glucose intoleranc... OMIM:606069
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly OMIM:608600
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Beta-Thalassemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis, Hepatitis ORPHA:848
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hyponatremia, Hepatitis ORPHA:199296
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Arthritis, Dec... OMIM:616100
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Agammaglobulinemia, Arthritis, Hypocalcemia, Osteomyelitis, Hepat... ORPHA:47
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Scl... ORPHA:93126
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Jaundice ORPHA:676
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:79312
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Familial Calcium Pyrophosphate Deposition
Limitation of joint mobility, Osteoarthritis, Joint dislocation, Chondrocalcinosis, Joint swellin... ORPHA:1416
Bullous Lichen Planus
Pruritus ORPHA:33408
Microscopic Polyangiitis
Sinusitis, Uveitis, Arthritis, Peritonitis, Increased inflammatory response, Episcleritis, Pancre... ORPHA:727
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Increased glucagon level, Neoplasm of the panc... ORPHA:438274
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level ORPHA:90368
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Jaundice, Giant cell hepatitis, Elevated hepatic transaminase, Cho... OMIM:613404
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Hypospadias OMIM:619428
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Crusting erythematous de... ORPHA:37042
Metachromatic Leukodystrophy
Cholecystitis, Urinary incontinence, Gallbladder dysfunction OMIM:250100
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Elevated circulating creatine kinase concentration, Giant cell hepatitis, Abnorma... ORPHA:79095
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Colitis, Splenomegaly, Hepatomegaly, Pancreatitis OMIM:615947
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Colitis, Panhypogammag... OMIM:209920
Graft Versus Host Disease
Myositis, Pneumonia, Hepatosplenomegaly, Gastrointestinal inflammation, Inflammatory abnormality ... ORPHA:39812
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Melioidosis
Pneumonia, Parotitis, Cutaneous abscess, Osteoarthritis, Prostatitis, Hepatitis, Abnormality of t... ORPHA:31202
Drug Reaction With Eosinophilia And Systemic Symptoms
Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubulointerstitial nephritis, Acu... ORPHA:139402
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis, Decreased circulating IgA level, Decreased circulat... OMIM:614878
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Cholangitis, Rheumatoid... ORPHA:183675
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Sple... OMIM:618935
Tropical Pancreatitis
Jaundice, Pancreatic calcification, Abnormal pancreatic duct morphology, Pancreatic adenocarcinom... ORPHA:103918
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Antinuclear antibody positivity, Systemic lupus erythematosus OMIM:178610
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Elevated circulating alanine aminotransferase concentration, Hepatic stea... OMIM:614921
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Acne, Hyperinsulinemia OMIM:615363
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, C... ORPHA:171
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pancreatitis ORPHA:70578
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis OMIM:251000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Hashimoto thyroiditis, Decreased circulating IgA level, Recurren... ORPHA:275
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:435651
Somatostatinoma
Gallbladder dysfunction, Hepatomegaly, Extrahepatic cholestasis, Intrahepatic cholestasis, Interm... ORPHA:97283
Griscelli Syndrome
Abnormal circulating lipid concentration, Splenomegaly, Decreased circulating antibody level, Jau... ORPHA:381
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Decreased liver function, Hepatomegaly, Acute hepatitis, Hyperammonemia OMIM:238970
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Cholangitis, Decreased circul... OMIM:619652
Legionnaires Disease
Infectious encephalitis, Endocarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Pancreatit... ORPHA:549
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Decr... OMIM:619510
Cach Syndrome
Optic neuritis, Hepatosplenomegaly, Pancreatitis ORPHA:135
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Recurrent skin infections, Pneumonia, Infectious encephalitis, Peritonitis, ... ORPHA:36234
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Infectious encephalitis, Myocarditis, Hepatitis, Hypoalbuminemia, H... ORPHA:292
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Proteinuria, Impaired T cell function, Microscopic hematuria, Nephro... ORPHA:1830
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:222800
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased inflammatory response, Increased circulating antibody... ORPHA:449400
Mody
Glycosuria, Exocrine pancreatic insufficiency, Renal cyst, Neonatal hypoglycemia, Pancreatic hypo... ORPHA:552
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Jaundice, Giant cell hepatitis, Elevated hepatic transaminase, Cho... OMIM:208085
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Immunodeficiency 57 With Autoinflammation
Decreased circulating antibody level, Bronchiectasis, Inflammation of the large intestine, Perian... OMIM:618108
Budd-Chiari Syndrome
Portal hypertension, Cholecystitis, Peritonitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... ORPHA:131
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Green urine, Cholestasis OMIM:614156
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Maple Syrup Urine Disease
Pancreatitis OMIM:248600
Peeling Skin Syndrome 6
Pruritus OMIM:618084
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Recurrent aphthous stomatitis, Hepatitis, Decreased spe... ORPHA:3261
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Microsporidiosis
Sinusitis, Myositis, Pneumonia, Lymphadenitis, Cholangitis, Infectious encephalitis, Peritonitis,... ORPHA:2552
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:616217
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis ORPHA:188
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Renal Cysts And Diabetes Syndrome
Glycosuria, Unilateral renal agenesis, Exocrine pancreatic insufficiency, Proteinuria, Diabetes m... OMIM:137920
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Limitation of joint mobility, Systemic lupus erythematosus ORPHA:399180
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Pgm3-Cdg
Reduced antigen-specific T cell proliferation, Recurrent pneumonia, Increased circulating IgG lev... ORPHA:443811
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:235700
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:266200
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Uveitis, Knee osteoarthritis, Abnormality of the ankles, Joint hypermobility, Rheum... ORPHA:85410
Aspergillosis
Sinusitis, Pneumonia, Infectious encephalitis, Bronchiectasis, Osteomyelitis, Hepatitis, Keratiti... ORPHA:1163
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:2348
Lysinuric Protein Intolerance
Oroticaciduria, Hepatic failure, Proteinuria, Renal amyloidosis, Membranous nephropathy, Pancreat... ORPHA:470
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:611926
Propionic Acidemia
Eczema, Hepatomegaly, Pancreatitis OMIM:606054
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:615577
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgG level, Increased circulating IgA level, Increased circulating antibody ... ORPHA:169154
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Q Fever
Abnormality of the liver, Pneumonia, Hepatosplenomegaly, Infectious encephalitis, Maculopapular e... ORPHA:781
Igg4-Related Retroperitoneal Fibrosis
Nephrotic syndrome, Unilateral renal hypoplasia, Acute kidney injury, Hashimoto thyroiditis, Hydr... ORPHA:49041
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatitis, Asplenia, Keratoconjunctivitis, ... OMIM:269200
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Splenomegaly, Pancreatitis ORPHA:90970
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Pancreatitis, Iridocyclitis ORPHA:412057
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Sclerosing cholangitis, Decreased circulating beta-2-microglobulin level, Acute otitis... ORPHA:572
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Splenomegaly, Hepatomegaly, Pancreatitis, Cirrhosis ORPHA:79083
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Panhypogammag... OMIM:307200
Netherton Syndrome
Erythroderma, Allergic rhinitis, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgM level, Bronchiectasis, Eczema, Allergi... OMIM:615816
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Pneumonia, Infectious encephalitis, El... ORPHA:454836
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Inflammatory abnormality of the skin ORPHA:79099
Thymoma
Myositis, Glomerulonephritis, Decreased circulating antibody level, Rheumatoid arthritis, Ulcerat... ORPHA:99867
Brucellosis
Sacroiliac arthritis, Arteritis, Epididymitis, Liver abscess, Hypersplenism, Hip osteoarthritis, ... ORPHA:1304
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased circulating IgA level, Eczema, Thyroiditis, Erythroderma, Decreased lymphocyte prolifer... OMIM:606367
Hyperlipoproteinemia, Type I
Pancreatitis, Hepatosplenomegaly, Jaundice, Splenomegaly OMIM:238600
Postinfectious Vasculitis
Viral hepatitis, Pneumonia, Gastrointestinal inflammation, Proteinuria, Hematuria, Increased circ... ORPHA:48435
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Membranoproliferative glomerulonephritis, Chronic kidney di... OMIM:137940
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Splenomegaly, Hepatomegaly, Keratoconjunctivitis sicca... ORPHA:91138
Lichen Planopilaris
Hepatitis ORPHA:525
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Decreased circulating total IgM, Pneumonia, Increased circulating IgA level, Inflammat... OMIM:600903
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Hepatic failure, Increased circulating IgM level, Dysgammaglobul... OMIM:308240
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Portal hypertension, Hepatosplenomegaly, Cholangitis, Acute hepatic failure, Thyroiditis, Hepatit... ORPHA:228426
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Decreas... OMIM:300755
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infe... ORPHA:2968
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Portal hypertension, Hashimoto thyroiditis, Decreased circulating IgA level, Splenomegaly, Hepato... OMIM:613385
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Pneumonia, Increased circ... ORPHA:276
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level OMIM:313900
Primary Sjögren Syndrome
Optic neuritis, Myositis, Biliary cirrhosis, Erythema nodosum, Parotitis, Chronic hepatitis, Glom... ORPHA:289390
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:611881
Wilson Disease
Hepatic failure, Osteoarthritis, Hepatomegaly, Atypical or prolonged hepatitis, Cirrhosis, High n... OMIM:277900
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Elevated circulating alanine aminotransferase concentration, Hepatic stea... OMIM:619525
Netherton Syndrome
Decreased circulating antibody level, Eczema, Erythroderma, Increased circulating IgE level, Skin... ORPHA:634
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria ORPHA:251004
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Uveitis, Pneumonia,... OMIM:614700
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Macroscopic hematuria, Albuminuria, Microscopic hematuria, Stage 5 chroni... ORPHA:567546
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Portal hypertension, Hepatitis, Cholestasis ORPHA:440713
Systemic Sclerosis
Recurrent skin infections, Acute kidney injury, Proteinuria, Glomerulonephritis, Myocarditis, Chr... ORPHA:90291
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Jaundice, Peri... ORPHA:444490
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia, Decreased circulating... OMIM:102700
Caroli Syndrome
Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Jaundice, Intra... ORPHA:480520
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenomegaly, Hepatome... OMIM:610199
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Proteinuria, Postprandial hyperglycemia, Abnormal oral glucose tol... ORPHA:2298
Alstrom Syndrome
Recurrent pneumonia, Hepatic steatosis, Tubulointerstitial nephritis, Hepatomegaly, Hyperuricemia... OMIM:203800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hemorrhagic Fever-Renal Syndrome
Oliguria, Acute tubulointerstitial nephritis, Pneumonia, Hematuria, Acute kidney injury, Proteinu... ORPHA:340
Rheumatoid Arthritis
Joint stiffness, Rheumatoid factor positive, Polyarticular arthritis, Rheumatoid arthritis, Joint... OMIM:180300
Familial Mediterranean Fever
Erysipelas, Orchitis, Peritonitis, Osteoarthritis, Pancreatitis, Splenomegaly, Pericarditis, Arth... ORPHA:342
Citrullinemia Type Ii
Hepatic steatosis, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis ORPHA:247585
Behçet Disease
Optic neuritis, Myositis, Arthritis, Orchitis, Infectious encephalitis, Increased inflammatory re... ORPHA:117
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic steatosis, Portal hypertension, Acute pancreatitis, Hepatosplenomegaly, C... OMIM:619487
Ebola Hemorrhagic Fever
Increased circulating antibody level, Maculopapular exanthema, Hepatitis, Acute pancreatitis ORPHA:319218
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Partial Ig... ORPHA:35078
Diverticulosis, Small-Intestinal
Rheumatoid arthritis, Thyroiditis, Ulcerative colitis OMIM:223320
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Renal insufficiency OMIM:161200
Lymphatic Filariasis
Nephrotic syndrome, Lymphadenitis, Hematuria, Proteinuria, Orchitis, Knee osteoarthritis, Abnorma... ORPHA:2035
Dysbetalipoproteinemia
Acute pancreatitis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Gout ORPHA:412
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasis, Inter... ORPHA:100086
Autoimmune Polyendocrinopathy Type 4
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Tubulointerstitial nephritis, Decreased circ... ORPHA:227990
Mccune-Albright Syndrome
Cholestasis, Hyperthyroidism, Elevated circulating growth hormone concentration, Increased circul... ORPHA:562
Zygomycosis
Sinusitis, Gastritis, Infectious encephalitis, Colitis, Endocarditis, Myocarditis, Peritonitis, S... ORPHA:73263
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Peutz-Jeghers Syndrome
Abnormality of the ureter, Abnormality of the gallbladder, Biliary tract neoplasm, Pancreatic ade... ORPHA:2869
Myasthenia Gravis
Hashimoto thyroiditis, Myositis, Hepatitis, Rheumatoid arthritis ORPHA:589
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus, Pustule ORPHA:48377
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Coccidioidomycosis
Abnormality of the liver, Pneumonia, Erythema nodosum, Peritonitis, Pancreatitis, Morbilliform ra... ORPHA:228123
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Hyperornithinemia, Abnormal circulating citrulline concentration, Decreased live... ORPHA:415
Autoimmune Polyendocrinopathy Type 3
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Tubulointerstitial ne... ORPHA:227982
Dominant Beta-Thalassemia
Hepatosplenomegaly, Chronic hepatitis, Splenomegaly, Jaundice, Abnormality of iron homeostasis, C... ORPHA:231226
Glycogen Storage Disease Ia
Hepatocellular carcinoma, Gout, Hepatomegaly, Pancreatitis OMIM:232200
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pericarditis, Anterior uveitis, Joint swelling, Skin rash, Juvenile rheumatoid arth... ORPHA:85414
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Parotitis, Nephritis, Pancreatitis ORPHA:449427
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Hepatomegaly, Panniculitis, Cirrhosis ORPHA:79086
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Pancreatitis ORPHA:370348
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Recurrent pneumonia, Hepatosplenomegaly, He... OMIM:219700
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Gout, Hepatomegaly, Pancreatitis OMIM:232220
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Osteomyelitis, Chronic otitis media, Increased circulating IgE level, Skin rash ORPHA:2314
Triploidy
Abnormality of the pancreas, Abnormality of the gallbladder, Hepatomegaly, Hypoplasia of penis, H... ORPHA:3376
Rift Valley Fever
Increased circulating IgG level, Uveitis, Increased circulating IgM level, Infectious encephaliti... ORPHA:319251
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Abnormality of the pancreas, Abnormality of the gallbladder, Hydr... ORPHA:887
Selective Igm Deficiency
Hashimoto thyroiditis, Rheumatoid arthritis, Otitis media, Keratitis, Fasciitis, Recurrent pneumo... ORPHA:331235
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Interface hepatitis, Decreased circulating antibody level, Enterocolitis, Pso... OMIM:243150
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Iridocyclitis, Asplenia, Chronic active hepatitis, Keratoconjunctivitis, Chronic ... OMIM:240300
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Abnormality of mesentery morphology, Abnormality of th... ORPHA:2075
Relapsing Polychondritis
Chondritis of pinna, Uveitis, Arthritis, Inflammatory abnormality of the eye, Scleritis, Myocardi... ORPHA:728
Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczematoid dermatitis, Chroni... ORPHA:83471
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:280365
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hepatic periportal necrosis ORPHA:26791
Granulomatosis With Polyangiitis
Sinusitis, Inflammatory abnormality of the eye, Increased inflammatory response, Prostatitis, Chr... ORPHA:900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hepatic steatosis, Periodontitis, Increased hepatic glycogen content, Hepatomegal... ORPHA:79259
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level ORPHA:2902
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Increased circulating IgM level, Decreased circulating IgA level, Bronchiec... OMIM:242860
Mucopolysaccharidosis Type 7
Hepatitis, Splenomegaly ORPHA:584
Chronic Mucocutaneous Candidiasis
Cheilitis, Hepatitis, Skin rash ORPHA:1334
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Cocaine Intoxication
Hematuria, Acute kidney injury, Proteinuria, Colitis, Glomerulonephritis, Tubulointerstitial neph... ORPHA:90068
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Cholangitis, Chronic hepatitis, Colitis, Splenomegaly, Eczema, Erythroderma, ... ORPHA:3260
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hashimoto thyroiditis, Hyperuricemia, Hepatitis ORPHA:199299
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, Recurrent otitis media, Crohn's disease, Recurrent skin infectio... OMIM:619381
Neurotrophic Keratopathy
Anterior uveitis, Allodynia ORPHA:137596
Intrahepatic Cholestasis Of Pregnancy
Cholecystitis, Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice ORPHA:69665
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria ORPHA:349
Igg4-Related Submandibular Gland Disease
Increased circulating IgG level, Cholangitis, Increased circulating IgG4 level, Prostatitis, Incr... ORPHA:449432
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Abnormal serum interferon-gamma level, Infectious encephalitis, Bronchiectasi... ORPHA:391487
Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis ORPHA:565612
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Listeriosis
Hepatic granulomatosis, Pyelonephritis, Pneumonia, Acute kidney injury, Infectious encephalitis, ... ORPHA:533
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Orchitis, Prostatitis, Retroperitoneal fibrosis, Thyroiditis, Pancreatiti... ORPHA:449563
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgG level, Pancolitis, Eosinophilic infiltrati... OMIM:618213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Pancreatitis ORPHA:90038
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Acute Disseminated Encephalomyelitis
Myelitis, Viral hepatitis, Optic neuritis, Herpes simplex encephalitis ORPHA:83597
Visceral Myopathy 1
Pancreatitis OMIM:155310
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:301000
Lichtenstein Syndrome
Decreased circulating IgA level OMIM:246550
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, ... ORPHA:774
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice ORPHA:20
Kawasaki Disease
Arthritis, Cholecystitis, Myocarditis, Jaundice, Cheilitis, Hepatitis, Pericarditis, Conjunctivit... ORPHA:2331
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:615512
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating luteinizing hormone level, Hepatic steatosis, Elevated c... OMIM:617253
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Neutral Lipid Storage Myopathy
Hepatic steatosis, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Elevated hepatic transamina... ORPHA:98908
Leptospirosis
Optic neuritis, Uveitis, Hepatomegaly, Jaundice, Hepatitis, Pericarditis, Elevated serum transami... ORPHA:509
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, IgA deposition in the glomerulus, Gastrointestinal inflammation, Glome... ORPHA:79408
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Decrea