Gene Summary

Name:
suppressor of cytokine signaling 1
Synonyms:
JAK2-binding protein,  Cish1,  JAK-binding protein,  SOCS-1,  SSI-1,  JAB,  STAT-induced STAT inhibitor 1,  Cish7

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
preweaning lethality, complete penetrance Socs1tm1.1(KOMP)Vlcg HOM   Early adult 0.00

Download data as:  TSV  XLS

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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  Wholemount images  Section images heterozygote 100% (4 of 4)
Aorta  Wholemount images heterozygote 50% (2 of 4)
Brain  Wholemount images heterozygote 100% (4 of 4)
Brown adipose tissue  Wholemount images heterozygote 50% (2 of 4)
Cecum  Wholemount images heterozygote 50% (2 of 4)
Cerebellum  Wholemount images  Section images heterozygote 100% (4 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Colon  Wholemount images  Section images heterozygote 75% (3 of 4)
Diaphragm  Wholemount images heterozygote 25% (1 of 4)
Duodenum  Wholemount images heterozygote 50% (2 of 4)
Epididymis  Wholemount images  Section images heterozygote 50% (2 of 4)
Esophagus  Wholemount images  Section images heterozygote 75% (3 of 4)
Eye  Wholemount images  Section images heterozygote 50% (2 of 4)
Gall bladder  Wholemount images heterozygote 50% (2 of 4)
Gonadal fat pad  Wholemount images heterozygote 25% (1 of 4)
Kidney  Wholemount images heterozygote 50% (2 of 4)
Liver  Wholemount images heterozygote 50% (2 of 4)
Lung  Wholemount images heterozygote 50% (2 of 4)
Mesenteric lymph node  Wholemount images heterozygote 50% (2 of 4)
Midbrain  Wholemount images  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Wholemount images heterozygote 50% (2 of 4)
Ovary  Wholemount images  Section images heterozygote 50% (2 of 4)
Oviduct  Section images heterozygote 50% (2 of 4)
Pancreas  Wholemount images heterozygote 25% (1 of 4)
Penis  Wholemount images  Section images heterozygote 50% (2 of 4)
Pituitary gland  Wholemount images heterozygote 50% (2 of 4)
Prostate gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Quadriceps  Wholemount images  Section images heterozygote 50% (2 of 4)
Skin  Wholemount images  Section images heterozygote 100% (4 of 4)
Spinal cord  Wholemount images heterozygote 50% (2 of 4)
Spleen  Wholemount images  Section images heterozygote 75% (3 of 4)
Stomach  Wholemount images  Section images heterozygote 100% (4 of 4)
Testis  Wholemount images  Section images heterozygote 50% (2 of 4)
Thymus  Wholemount images  Section images heterozygote 75% (3 of 4)
Thyroid gland  Wholemount images heterozygote 25% (1 of 4)
Tongue  Wholemount images  Section images heterozygote 100% (4 of 4)
Trachea  Wholemount images  Section images heterozygote 100% (4 of 4)
Trigeminal V nerve  Section images heterozygote 50% (2 of 4)
Urinary bladder  Wholemount images heterozygote 50% (2 of 4)
Uterus  Wholemount images  Section images heterozygote 50% (2 of 4)
Vagina  Wholemount images  Section images heterozygote 50% (2 of 4)
Vas deferens  Wholemount images heterozygote 25% (1 of 4)
Vesicular gland  Wholemount images  Section images heterozygote 50% (2 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 50% (2 of 4)
Jejunum N/A heterozygote 50% (2 of 4)
Large intestine N/A heterozygote 75% (3 of 4)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (2 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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.

Adult LacZ

LacZ Images Section

66 Images

Adult LacZ

LacZ Images Wholemount

60 Images

X-ray

XRay Images Whole Body Dorso Ventral

40 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

Human diseases caused by Socs1 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.

The table below shows human diseases associated to Socs1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375

The table below shows human diseases predicted to be associated to Socs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection... ORPHA:444463
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis OMIM:613737
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri... OMIM:617585
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Papa Syndrome
Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pustule, Proteinuria, Acne, Increased infl... ORPHA:69126
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu... ORPHA:139402
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Muscle eosinophilia, Myositis, Scapular winging, Facial palsy, Proximal amyot... OMIM:253600
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Po... OMIM:617006
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Renal insufficiency, Arthritis, Skin rash, Hyperte... ORPHA:567544
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the eye, Jau... ORPHA:39812
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Folliculitis, Inflammation of the ... OMIM:300635
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity, Abnormal T cell count, ... OMIM:613495
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chronic diarr... OMIM:619858
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin, Histiocytosis ORPHA:157997
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Abnormal lym... OMIM:613953
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Jaundice, Pancreatitis, Abdominal pain, Vomiting ORPHA:313906
Systemic Capillary Leak Syndrome
Myocarditis, Abnormal renal tubule morphology, Pancreatitis, Diarrhea, Abdominal pain, Leukocytos... ORPHA:188
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Chronic diarrhea, Skin rash, Abdominal pain,... OMIM:142680
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis OMIM:247800
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Arthritis, Muscular edema, Weight loss, Eosinophilia, F... ORPHA:3165
Chilblain Lupus 2
Chilblains OMIM:614415
Rat-Bite Fever
Morbilliform rash, Myocarditis, Anemia, Pancreatitis, Diarrhea, Arthritis, Parotitis, Skin rash, ... ORPHA:31205
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Scrub Typhus
Myocarditis, Lymphadenopathy, Abdominal pain, Skin rash, Hypotension, Hyperhidrosis, Splenomegaly... ORPHA:83317
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Hypothyroidism, Failure to thrive, Nephrotic ... OMIM:618999
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Myositis, Skin rash, Scapular winging, EMG: myopathic abno... ORPHA:206569
Legionnaires Disease
Myocarditis, Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, D... ORPHA:549
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Diar... ORPHA:3386
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Anorexia, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepa... ORPHA:65682
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Cachexia, Abnormal intestine morphology,... ORPHA:37042
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Skin rash, Hypertension, Sinusitis, Dysphagia, Nausea and vomiting, Myoca... ORPHA:183
Focal Myositis
Myositis, Weight loss ORPHA:48918
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... ORPHA:829
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Gastroesophageal reflux, Failure to thrive... OMIM:608971
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Failure to t... ORPHA:169160
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Chronic diarrhea, Failure to thrive, Thrombocytopenia, Spl... OMIM:615285
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Dissecting Cellulitis Of The Scalp
Recurrent skin infections, Pruritus ORPHA:345
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Recurrent in... OMIM:617514
Shigellosis
Cholestasis, Paralytic ileus, Myocarditis, Anorexia, Acute kidney injury, Hemolytic-uremic syndro... ORPHA:810
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia, Myositis, Calf muscle hypertrophy, Skeletal muscle atrophy, Proximal muscle weak... ORPHA:565899
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... OMIM:617591
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Crohn's disease, Onychomycosis, Granuloma, Splenomegaly, Lymphopenia, Recurrent... OMIM:618935
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Lymphadenopathy, Ileus, Arthritis, Decreased FOXP3-expressing T cell cou... OMIM:304790
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Failure to thrive OMIM:614372
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Increased circulating lactate dehydrogenase concentration, Leukope... ORPHA:93552
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Chronic diarrhea, Elevated circulating alanine aminotransferase conce... OMIM:618805
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent tonsillitis, Nephrotic syndrome, Recurrent pneumonia, Membranoproliferative glomerulone... OMIM:613779
Whipple Disease
Myocarditis, Anorexia, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, An... ORPHA:3452
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Hepatomegaly, Pancreatitis, Anemia, Abdominal pain, Cardiomyopathy, Failure to thrive, ... ORPHA:79312
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Myositis
Myositis OMIM:160750
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa... ORPHA:809
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Anemia, Arthritis, Skin rash, Abnormality of the tonsils, Abnormali... ORPHA:47
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Myocarditis, Abdominal pain, Increased circulating myelocyte count, Nausea,... ORPHA:36234
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, L... OMIM:152700
Hepatitis Delta
Anorexia, Cirrhosis, Jaundice, Abdominal pain, Fulminant hepatitis, Hepatocellular carcinoma, Ele... ORPHA:402823
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenomegaly, Increased ... OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Va... OMIM:308240
Immunodeficiency 48
Recurrent candida infections, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglu... OMIM:269840
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Malar rash, Myositis, Skin rash, Pustular rash, Failure to thrive, Pustule, Paratracheal ... OMIM:615934
Microsporidiosis
Intermittent diarrhea, Chronic diarrhea, Cachexia, Sinusitis, Biliary tract abnormality, Myocardi... ORPHA:2552
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Anti-smooth muscle antibody positi... OMIM:601859
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly,... OMIM:619183
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C... OMIM:615401
Q Fever
Elevated circulating hepatic transaminase concentration, Pericarditis, Splenomegaly, Cholecystiti... ORPHA:781
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Dysphagia, Hepatic failure ORPHA:2724
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Recurrent pneumonia, Splenom... OMIM:619164
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s... ORPHA:54370
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Pyoderma Gangrenosum
Myositis, Rheumatoid arthritis, Inflammation of the large intestine, Pustule, Myeloid leukemia ORPHA:48104
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Recurrent otitis media, B lymphocytopenia, Increased circulating IgE lev... ORPHA:277
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis, Hepati... ORPHA:292
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin rash, Thrombocytopenia, S... OMIM:603552
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hem... OMIM:619644
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis, Hepatomegaly, Pancreatitis, Anemia, Growth delay, Thrombocytopenia, Neutropenia ORPHA:289916
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Panhypogammaglobulinemia, Ski... ORPHA:572
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Lymphadenopathy, Myositis, Arthritis, Skin rash, Abdominal pain, Diarrhea... ORPHA:32960
Familial Reactive Perforating Collagenosis
Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythem... ORPHA:79147
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Antisynthetase Syndrome
Myocarditis, Aortic regurgitation, Myositis, Arthritis, Skin rash, Xerostomia, Pulmonary arterial... ORPHA:81
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Rheumatic Fever
Myocarditis, Anorexia, Abnormal aortic valve morphology, Arthritis, Abdominal pain, Abnormal hear... ORPHA:3099
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased ... OMIM:613101
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he... ORPHA:2137
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short stature, Failure to ... OMIM:614480
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,... OMIM:615513
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma... OMIM:607616
Immunodeficiency 97 With Autoinflammation
Granuloma, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Lymphopenia, ... OMIM:619802
Felty Syndrome
Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrop... ORPHA:47612
Wilson Disease
Cirrhosis, Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... ORPHA:905
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Eczematoid dermatitis, ... OMIM:300988
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Leukocyto... OMIM:620565
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Renal insufficiency, Lacticaciduria, Elevated circulating alanine aminotr... OMIM:619386
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Brucellosis
Pericarditis, Intrarenal abscess, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior uveitis, Myoc... ORPHA:1304
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased proportion of CD3-positive T c... ORPHA:331206
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Isolated Agammaglobulinemia
Sepsis, Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly... ORPHA:229717
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Pure red cell aplasia, Hashimoto thyroiditis, Primary adrenal ins... ORPHA:589
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundic... OMIM:243300
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Arthritis, B lympho... ORPHA:397596
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Mucoid diarrhea, Abnormal... OMIM:615767
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hypertension, Polycystic ovaries, Hepatic steatosis ORPHA:79084
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Skin rash, Sinusitis, Pericarditis, Epistaxis, Oliguria, Nausea and ... ORPHA:727
Congenital Syphilis
Myocarditis, Anemia, Lymphadenopathy, Pancreatitis, Diarrhea, Synovitis, Nephrotic syndrome, Prol... ORPHA:499009
Genetic Recurrent Myoglobinuria
Acute kidney injury, Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Elevate... ORPHA:99845
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Thrombocytopenia, Glomerulonephritis OMIM:314000
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Immunodeficiency 32B
Hepatomegaly, Anemia, Recurrent infections, Abnormal circulating IgG level, Bronchiectasis, Sinus... OMIM:226990
C1Q Deficiency 3
Discoid lupus rash OMIM:620322
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus,... OMIM:603554
Thymoma
Aplastic anemia, Myositis, Rheumatoid arthritis, Pure red cell aplasia, Weight loss, Neoplasm of ... ORPHA:99867
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, Agammaglobulinemia, Sin... ORPHA:33110
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Chronic diarrhea, Recurrent sinusitis, Recurren... OMIM:614379
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc... OMIM:619126
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Cardiomyopathy, Leukopenia, Thrombocytopenia ORPHA:27
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Anemia, Pancreatitis, Limb hypertonia, Pancytopenia, Increas... OMIM:606054
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Pyomyositis
Testicular teratoma, Myositis, Leukocytosis, Weight loss, Recurrent cutaneous abscess formation, ... ORPHA:764
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ... OMIM:608709
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Neutropenia, Recurrent lower respiratory trac... OMIM:613501
Behçet Disease
Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Pericarditis, Splenomegaly, Nause... ORPHA:117
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Bradycardia, Skin rash, Increased circul... ORPHA:319213
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, A... ORPHA:83471
Sweet Syndrome
Small vessel vasculitis, Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia... ORPHA:3243
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Bone... OMIM:127550
Bone Marrow Failure Syndrome 4
Anemia, Rhizomelia, Decreased circulating antibody level, Eczematoid dermatitis, Short stature, B... OMIM:618116
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Recurrent lower respiratory tract infections, Cholangitis, Panhypogammaglobulinemia,... OMIM:209920
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Short stature, Bon... ORPHA:381
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Palpitations, Abdominal pain, Recurrent pancreatitis OMIM:619290
Caspase 8 Deficiency
Lymphadenopathy, Complete or near-complete absence of specific antibody response to unconjugated ... OMIM:607271
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Hepatomegaly, Recurrent lower respiratory tract infections, Megalob... OMIM:620603
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Systemic Sclerosis
Nail bed telangiectasia, Gastroparesis, Bowel incontinence, Pericarditis, Dysphagia, Intestinal b... ORPHA:90291
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Systemic Lupus Erythematosus 16
Lupus nephritis OMIM:614420
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, Recurrent bacterial infections OMIM:619437
Aicardi-Goutieres Syndrome 3
Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplenomegaly, Ch... OMIM:610329
Leishmaniasis
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, P... ORPHA:507
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Cholesteryl Ester Storage Disease
Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly, Acute hepati... OMIM:278000
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Catastrophic Antiphospholipid Syndrome
Myocarditis, Gastrointestinal infarctions, Myocardial infarction, Abnormality of the kidney, Angi... ORPHA:464343
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Hereditary Spherocytosis
Abdominal distention, Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crise... ORPHA:822
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas... OMIM:619824
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Recurrent lower re... OMIM:619220
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Decreased circulating total IgM, Recurrent urinary tr... OMIM:620210
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:301045
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Yao Syndrome
Diarrhea, Arthritis, Skin rash, Xerostomia, Abdominal pain, Ventricular hypertrophy, Nephrolithia... OMIM:617321
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Recu... OMIM:301078
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, Recurrent infections, B... OMIM:150550
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Gallbladder Disease 1
Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ... OMIM:600803
Dominant Beta-Thalassemia
Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, High-output congestive he... ORPHA:231226
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem... ORPHA:848
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Hemoly... OMIM:615010
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Splenomegaly, Increased circulating IgG level, Vasculitis, Nephritis... OMIM:603909
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration, Hyperte... OMIM:189800
Immunodeficiency 62
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c... OMIM:618459
Schimke Immuno-Osseous Dysplasia
Hypertension, Cerebral ischemia, Bone marrow hypocellularity, Lymphopenia, Intrauterine growth re... ORPHA:1830
Diarrhea 6
Crohn's disease, Chronic diarrhea, Meteorism, Abdominal pain OMIM:614616
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam... OMIM:607765
Babesiosis
Congestive heart failure, Jaundice, Hepatomegaly, Recurrent pharyngitis, Recurrent infections, Hy... ORPHA:108
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Thrombocytopenia, Intrauterine growth retardation ORPHA:1980
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Sepsis, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, Abnormally low T cell rece... OMIM:602450
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Skin rash, Short stature, Enterocolitis, Failure to thrive, Thrombocytopeni... OMIM:616050
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... ORPHA:75564
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Recurrent infections, Herpes simplex encephalitis, Incre... OMIM:618982
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Pancreatitis, Vomiting OMIM:620137
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Diarrhea, Skin rash, Leukocytosis, Failure to thrive, Hep... OMIM:618963
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Short stature, Failure to thrive, Recurrent respiratory infections, Recur... OMIM:616022
Listeriosis
Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Acute kidney injury, Jaundice,... ORPHA:533
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Dysphagia OMIM:618230
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Bronchi... OMIM:300755
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Elevated circulating hepatic transaminase concentration, Panhypogamm... ORPHA:79124
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp... ORPHA:728
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Renal cortical adenoma, Pancreatic adenocarcinoma, Polycystic kidney dyspl... OMIM:145001
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Diarrhea, Cardiomyopathy, Vomiting, Failure to... OMIM:251000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Complement Component 4A Deficiency
Vasculitis, Glomerulonephritis OMIM:614380
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Neonatal Lupus Erythematosus
Aplastic anemia, Prolonged QT interval, Elevated circulating hepatic transaminase concentration, ... ORPHA:398124
Majeed Syndrome
Skin rash, Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Inflammatory a... OMIM:609628
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Retinal ... ORPHA:294
Tularemia
Pneumonia, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Inflammatory abnormality of the ... ORPHA:3392
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Calcinosis, Myositis, Arthritis, Skin rash, Abdominal pain, Cardiomy... ORPHA:93672
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Increased circulating lactate dehydrogenase concentration... ORPHA:99827
Fusariosis
Abnormality of the kidney, Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Bronchiect... ORPHA:228119
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Cystic Echinococcosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Abnormality o... ORPHA:400
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Atelectasis, Hepatomegaly, Recurrent infections, Microvesicular hepatic... OMIM:618278
Loeffler Endocarditis
Left atrial enlargement, Myocardial eosinophilic infiltration, Abnormal morphology of the chordae... ORPHA:75566
Ebola Hemorrhagic Fever
Sepsis, Gastrointestinal hemorrhage, Melena, Increased circulating antibody level, Acute pancreat... ORPHA:319218
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Skin rash, Increased circ... ORPHA:50918
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Thromboc... OMIM:243150
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Emphysema, Abnormally low T cell receptor excision ci... OMIM:242700
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Pulmonary hemorrhage, Mesangial hypercellularity, Crescentic glomerulonephritis OMIM:616414
Aicardi-Goutieres Syndrome 9
Elevated circulating hepatic transaminase concentration, Hypertension, Chilblains, Pericarditis, ... OMIM:619487
Cyclic Neutropenia
Perianal abscess, Sepsis, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Decreased eosino... ORPHA:2686
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio... OMIM:212050
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Partial absence of... OMIM:240500
Melioidosis
Unusual skin infection, Pneumonia, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot o... ORPHA:31202
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Increased cir... OMIM:618495
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Failure to thrive... OMIM:616740
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Skin rash, Increased circula... OMIM:618048
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Arthrit... OMIM:601457
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Argininosuccinic aciduria, Portal inflammation, Hepatocellular carcinoma, Elevated ... OMIM:603471
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Growth delay,... ORPHA:169079
Nephrotic Syndrome, Type 6
Minimal change glomerulonephritis, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosi... OMIM:614196
Caroli Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah... ORPHA:480520
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, M... ORPHA:3226
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Abdominal pain, Focal segmental glomerulosclerosis, Proteinuri... ORPHA:656
Cryoglobulinemic Vasculitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa... ORPHA:91138
Primary Myelofibrosis
Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cach... ORPHA:824
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis OMIM:216950
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Hepatomegaly, Recurrent lower respiratory tract infections, ... OMIM:616100
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Systemic Lupus Erythematosus 17
Myelitis, Malar rash, Optic neuritis, Hypertensive crisis, Leukopenia, Raynaud phenomenon, Thromb... OMIM:301080
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Abdominal pain, Pericarditis, Splenomegaly, ... ORPHA:85414
Primary Sjögren Syndrome
Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leukopenia, Lymphopenia, Erythema nodosum... ORPHA:289390
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Recurrent infections, Lymphocyt... OMIM:614470
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast... ORPHA:98850
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis, Anemia, Leukocytosis OMIM:619398
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Enlarged tonsils, Psoriasiform dermatitis, Decreased CD4:CD8 ratio, Chronic or... OMIM:606367
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Angina pectori... ORPHA:565612
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Beta-Thalassemia Intermedia
Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, De... ORPHA:231222
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Partial absence of specific an... OMIM:620632
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegaly, Lymphade... ORPHA:858
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Pancytopenia, Arthritis, Sterile arthritis, Elbow flexion contracture, ... OMIM:604416
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Skin rash, Hypertension, Cholestasis, Nephrotic syndrome, Splenomegaly, ... OMIM:105200
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Chronic diarrhea, Myoca... ORPHA:3260
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Infection-Related Hemolytic Uremic Syndrome
Hypertension, Hypertensive crisis, Oliguria, Intussusception, Myocarditis, Acute kidney injury, A... ORPHA:544482
Familial Mediterranean Fever
Intestinal obstruction, Skin rash, Pericarditis, Nephrocalcinosis, Acute hepatic failure, Splenom... ORPHA:342
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinem... OMIM:307200
C3 Glomerulopathy
Acute kidney injury, Hematuria, Hypertension, Nephrotic syndrome, Proteinuria, Mesangial hypercel... ORPHA:329918
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Chronic oral candidiasis, Failure ... ORPHA:911
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, ... OMIM:609981
Kawasaki Disease
Cheilitis, Skin rash, Pericarditis, Nausea and vomiting, Cholecystitis, Myocarditis, Jaundice, Ab... ORPHA:2331
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Diarrhea, Neutropenia in presence of ... ORPHA:436159
Complement Factor I Deficiency
Recurrent otitis media, Vasculitis, Recurrent urinary tract infections, Recurrent sinusitis, Sept... OMIM:610984
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decr... OMIM:613500
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Chronic diarrhea, Bronchiectasis, Failure to thri... OMIM:615207
Avian Influenza
Pneumothorax, Congestive heart failure, Sepsis, Elevated circulating hepatic transaminase concent... ORPHA:454836
Bullous Impetigo
Glomerulopathy, Abnormality of the lymphatic system, Recurrent bacterial skin infections, Pustule... ORPHA:36237
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Minimal change glomerulonephritis, Abdominal pain, Abnormal glomerular visce... ORPHA:567548
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Failure to thriv... OMIM:612714
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619874
Trimethylaminuria
Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Thrombocytopenia, Hepatospleno... OMIM:259710
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Spider hemangioma, Adenocarcinoma of the... ORPHA:171
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic he... OMIM:614602
Galloway-Mowat Syndrome 7
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomeruloscler... OMIM:618348
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Synovitis, M... ORPHA:77297
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Intrahepatic ... OMIM:208085
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:300972
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Primary hypothyroidism, Lymphopenia, Recurrent Aspergillus infections, Thyroidit... ORPHA:391487
Lymphoproliferative Syndrome 3
Lymphadenopathy, Recurrent infections, Decreased circulating antibody level, Partial absence of s... OMIM:618261
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Feedin... OMIM:301006
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Hypertension, Ven... OMIM:617021
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased c... OMIM:619281
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Hypertension, Pericarditis, Abnormal heart morphology, Abnormality o... ORPHA:91139
Beta-Thalassemia Major
Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, Adrenal insuffi... ORPHA:231214
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro... ORPHA:443811
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Failure to thrive, Splenomegaly, Recurrent pancreatitis, Colitis OMIM:615947
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Decr... OMIM:612692
Reticular Dysgenesis
Chronic otitis media, Anemia, Diarrhea, Skin rash, Failure to thrive, Leukopenia, Malabsorption, ... ORPHA:33355
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased circulating I... ORPHA:83313
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Acute kidney injury, Abnormality of the gastrointestinal tract, Pancreat... ORPHA:93126
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypothyroidism, Hashimoto thyroiditis, Short sta... OMIM:613385
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Skin rash, Abnormal lymphocyt... ORPHA:100026
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Erysi... OMIM:214900
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Glomerulopathy, Hepatomegaly, Pancreatitis, Abnormality of skeletal mus... ORPHA:2348
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Recurrent infections, Thyroiditis, Neutropenia in presence ... ORPHA:228426
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Elevated circulating hepatic transaminase concentration, Lymphad... ORPHA:1572
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreati... OMIM:232220
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Failure to thrive, Hepatosplenomegaly, Heart murmur, Cardio... ORPHA:99931
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Prolidase Deficiency
Diffuse telangiectasia, Anemia, Hepatomegaly, Increased circulating antibody level, Recurrent inf... OMIM:170100
Nephrotic Syndrome, Type 11
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomeruloscler... OMIM:616730
Colchicine Poisoning
Myocarditis, Congestive heart failure, Diarrhea, Leukocytosis, Hypotension, Hypovolemia, Vomiting... ORPHA:31824
Hereditary Chronic Pancreatitis
Jaundice, Abnormal circulating enzyme concentration or activity, Abdominal pain, Leukocytosis, Pa... ORPHA:676
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Eczematoid dermatitis, Obesity, Cryptorchi... ORPHA:3055
Carcinoid Syndrome
Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, T... ORPHA:100093
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Intraalveolar phospholipid accumulation, Sh... OMIM:222700
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227990
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp... OMIM:615387
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... OMIM:608184
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... ORPHA:449395
Cach Syndrome
Pancreatitis, Optic neuritis, Vomiting, Renal hypoplasia, Hepatosplenomegaly, Dysphagia, Feeding ... ORPHA:135
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Osteoarthritis, Arrhythmia, Hepatic steatosis OMIM:606069
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Anemia, Pan... ORPHA:36426
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis ORPHA:79087
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Vomiting, Nausea, Pancreatic calcification, Weight... ORPHA:103918
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Steatorrhea, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunct... OMIM:269200
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227982
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle f... ORPHA:79083
Systemic Lupus Erythematosus, Susceptibility To, 6
Abnormality of the kidney, Malar rash, Arthritis, Pericarditis, Abnormal renal physiology OMIM:609939
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Decreased body weight, Short stature, Decreased beta-glucocerebrosida... OMIM:231000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transaminase concentrati... OMIM:619013
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Neoplasm of the pancreas, Abnormal left ventricul... ORPHA:892
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Short stature, Failure... OMIM:614727
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Skin rash, Short stature, Thrombocytopenia, Splenomegaly, Patent ... ORPHA:290
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Familial Chylomicronemia Syndrome
Perianal abscess, Jaundice, Acute pancreatitis, Episodic abdominal pain, Decreased body weight, F... ORPHA:444490
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Eczematoid dermati... OMIM:619510
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hy... OMIM:615395
Mirizzi Syndrome
Anorexia, Abdominal distention, Jaundice, Pancreatitis, Elevated circulating hepatic transaminase...