Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
oncostatin M receptor
Synonyms:
OSMRB

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Osmr 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 Osmr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyloidosis, Primary Localized Cutaneous, 1
OMIM:105250

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, ... OMIM:612526
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Jaundice, Increased circulating ferritin concent... OMIM:603552
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin rash, Hypertriglyceridemia OMIM:619175
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... OMIM:606069
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypercholesterolemia, Diab... OMIM:610947
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Maternal diabetes, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Exce... ORPHA:324575
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity,... ORPHA:71529
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Hepatomegaly, Insulin resistance, Multiple lipomas ORPHA:2398
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Focal pancreatic islet ... ORPHA:276575
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circu... OMIM:300635
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Diabetes mel... OMIM:610717
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... OMIM:604367
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Fasting hypoglycemia, Hypoketotic hypoglycemia, Polyphagia, Exce... ORPHA:276580
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Abnormality of body weight, ... ORPHA:2298
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Splenomegaly, Increased circulating ferritin concen... OMIM:613101
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Lipoatroph... ORPHA:79084
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Recurr... ORPHA:263458
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy, Lymphocytosis, Generalized hirsutism ORPHA:79087
Growth Hormone Insensitivity Syndrome
Fine hair, Hypoglycemia, Diabetes insipidus, Type II diabetes mellitus, Insulin resistance, Failu... ORPHA:181393
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, S... OMIM:278000
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, ... ORPHA:276556
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Pancreatitis, Hypertriglyceridemia OMIM:246650
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Pituitary... ORPHA:71526
Macrophage Activation Syndrome
Neutropenia, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Abnormal seru... ORPHA:158061
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Hypertrichosis, Low anterior hairline, Insulin resis... ORPHA:528
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellit... ORPHA:411593
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... ORPHA:436182
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Fasting hyper... ORPHA:79299
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormal circulating ... ORPHA:71212
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Po... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal ... OMIM:616222
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... ORPHA:79237
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Failure to thrive, Panniculitis, Lipodystrophy, Arthritis, Ane... OMIM:617591
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circula... OMIM:615285
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Adrenal calcif... ORPHA:75234
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, ... OMIM:619013
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... OMIM:615381
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Hypoglycemic seizures, Hyperbilirubinemia, Gonadotropin defici... OMIM:609734
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Decreased circulating antibody level, Splenomegaly, Increased circulating ferritin c... ORPHA:540
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Elevated cir... ORPHA:264580
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance, Delayed puberty ORPHA:140941
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Polycystic ovaries,... ORPHA:90970
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Protoporphyria, Erythropoietic, 1
Eczema, Cholelithiasis, Hypertriglyceridemia, Hepatic failure, Hemolytic anemia OMIM:177000
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:370
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Hirsutism, Insulin resistance, Elevated circulating creatine kinase conc... OMIM:613327
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceri... OMIM:618398
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit... OMIM:210250
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia, Hypopituitarism OMIM:144600
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia OMIM:245900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Splenomegaly, Lipoatrophy, Diabetes mellitus, Minimal s... ORPHA:280365
Preeclampsia
Small for gestational age, Elevated circulating creatinine concentration, Polycystic ovaries, Inc... ORPHA:275555
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Ascites, Failure to thrive, Depletion of mit... OMIM:251880
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Thrombocytopenia, Hepatomegaly ORPHA:1980
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Infectious encephalitis, ... OMIM:267700
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... ORPHA:79240
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Hirsutism, Polyphagia, Umbilical hernia, Insulin-resistant diabetes mellitus at pub... OMIM:608594
Porphyria Cutanea Tarda
Hirsutism, Increased circulating ferritin concentration, Decreased hepcidin level, Diabetes melli... ORPHA:101330
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, ... OMIM:619048
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iro... OMIM:616860
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619386
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Hypoproteinemia, Hepatomegaly, Hypoketotic hypoglycemia, Pn... ORPHA:26793
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Hirsutism, Polyphagia, Umbilical hernia, Insulin-resistant diabetes mellitus at pub... OMIM:269700
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Failure to thrive, Amelogenesis... OMIM:614727
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia, Elevated circulating acylcarnitine co... ORPHA:26792
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Whipple Disease
Myocarditis, Hyponatremia, Hepatomegaly, Cachexia, Infectious encephalitis, Pericarditis, Polydip... ORPHA:3452
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Failure to thrive, Cirrhosis, Cholestasi... OMIM:617156
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Infectious encephalitis, Leukopenia, Elevated hepati... OMIM:603553
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Hypogonadism, Increased circulating ferritin con... OMIM:615234
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 level, Central hypothyroidism, Hypercholesterolemia, Inappropriatel... OMIM:301033
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Congenital Atransferrinemia
Anemia, Arthritis, Hypothyroidism, Abnormality of the pancreas ORPHA:1195
Cog4-Cdg
Failure to thrive in infancy, Fatal liver failure in infancy, Hypercholesterolemia, Cirrhosis, He... ORPHA:263501
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Erythroderma, Pneumonia, Failure to thrive, Hyp... OMIM:603554
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Chilblains, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Rhinitis, Weight loss, Anemia, Splenomeg... ORPHA:507
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased HDL cholesterol concentration, Tubulointerstiti... OMIM:203800
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Peritonitis, Elevated hepatic iron c... ORPHA:139507
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Cardiomegaly, ... OMIM:212140
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Increased circulating ferr... OMIM:618963
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Hepatitis, Abnormal... ORPHA:848
Hemophagocytic Syndrome Associated With An Infection
Abnormal inflammatory response, Hyperproteinemia, Hepatomegaly, Neutropenia, Abnormal cytokine si... ORPHA:158048
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Failure to thrive, Anemia, Decreased liver function, Cholestasis, Hypothyr... OMIM:608104
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Decreased circulating antibody level, Micronodular cirrhosis, Decreased li... OMIM:301045
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia OMIM:189800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Erythroderma, Neutropenia, Coombs-positive hemolytic anemia, Failure to thr... OMIM:304790
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Jaundice, Perianal abscess, Hepatosple... ORPHA:444490
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hepatitis, Sple... ORPHA:905
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Obesity, Prec... ORPHA:254531
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Hepatomegaly, Failure to thrive, Anemia, Hepatic steatosis, Acute hepatic fail... OMIM:615438
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair, Sea-blue histiocytosis OMIM:269600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Splenomegaly, Hyperammonemia,... ORPHA:79312
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Sp... OMIM:613313
H Syndrome
Psoriasiform dermatitis, Hypertrichosis, Bronchiectasis, Chronic rhinitis, Lipodystrophy, Alopeci... ORPHA:168569
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Intrahepatic cholestasis, Hepatocellular carcinoma, Biliary tract obstruction, Pancr... ORPHA:69663
Morgagni-Stewart-Morel Syndrome
Hirsutism, Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Diabet... ORPHA:77296
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Splenomegaly, Skin rash, Type I diabetes mellitus, Thrombocytopenia, Jaundice ORPHA:290
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Cryptorchid... OMIM:307030
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia, Fe... ORPHA:2849
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly, Elevated hepatic tran... ORPHA:75563
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Incr... OMIM:616050
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Failure to thrive, Anemia, Splenomegaly,... OMIM:230900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulcerative colitis OMIM:619398
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating anti... OMIM:613011
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8, Adipose tissue loss, Parotitis, Splenomegaly, Elevated circu... OMIM:256040
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Thrombocytopenia, Hypoglycemia, Failure to thrive ORPHA:67048
Malaria
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia ORPHA:673
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis... ORPHA:47
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hyperthreoninemia, Hepat... ORPHA:247598
Immunodeficiency 47
Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased circulating total... OMIM:300972
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... OMIM:602579
Gaisböck Syndrome
Hyperproteinemia, Obesity, Increased red blood cell count, Gout, Hyperuricemia, Hypercholesterole... ORPHA:90041
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Adrenal insufficiency, Hypoglycemia, Hypogonadism, Lymphopenia, Hypothyroidism, ... OMIM:617575
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia ORPHA:289916
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, G... ORPHA:412
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen con... ORPHA:79259
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:618620
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Ascites, Anemia, Thrombocytopenia ORPHA:2123
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... OMIM:222100
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Osteoar... ORPHA:633
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:255120
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia ORPHA:27
Transaldolase Deficiency
Abnormal circulating glutamine concentration, Anemia, Cirrhosis, Hepatosplenomegaly, Increased se... ORPHA:101028
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Overlap Myositis
Dysphagia, Leukopenia, Elevated circulating creatine kinase concentration, Abnormal circulating l... ORPHA:206572
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Episcleritis, Polydipsia, Polyphagia, Goiter, Puber... ORPHA:525731
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Pancreatitis, Hyp... OMIM:603471
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... OMIM:616516
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Hirsutism, Hyperlipidemia, Increased circulating cortisol level, Diabetes me... ORPHA:189439
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive, Elevated creatine kinase after exercise, Elevated cir... ORPHA:99901
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Ascites, Anemia, Cardiomegaly, Elevated hepatic trans... ORPHA:858
Propionic Acidemia
Hepatomegaly, Eczema, Neutropenia, Hypoglycemia, Failure to thrive, Anemia, Pancreatitis, Hypergl... OMIM:606054
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Decreased circulating antibody level, Hyperglycinemia, Hyperammonem... ORPHA:470
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Donohue Syndrome
Fasting hypoglycemia, Hypertrichosis, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Pancr... OMIM:246200
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Macro... OMIM:619418
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increased hepatic glycogen content, ... ORPHA:369
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... ORPHA:79319
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia ORPHA:369873
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Hypogonadotropic hypogonadism, Anemia, Arthritis, Elevated tra... OMIM:604250
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Splenomegaly, Uveitis, Type I diabetes mellitus, Decreased c... OMIM:614700
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Failure to thrive, Abnormal lymphocy... ORPHA:229717
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Chylomicron Retention Disease
Acanthocytosis, Hypocholesterolemia, Failure to thrive, Increased hepatocellular lipid droplets, ... ORPHA:71
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hepatomegaly, Splenomegaly, Increased circulating antibody level, Thrombocytop... OMIM:615846
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Infectious encephalitis, Neutropenia, Decreased circulating IgG level, Fulminant he... OMIM:308240
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Cachexia, Hypoglycemia, Elevated circulating creatine kinase... ORPHA:42
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Pneumonia, Weight loss, Salmonella osteomyelitis, Anemia, Increased... OMIM:209950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Thrombocytosis, Elevated circulating C-reactive protein concentra... OMIM:604416
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Lipoatrophy, Hepatic hemangioma ORPHA:141184
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance, Premature pubarche OMIM:614662
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal ... ORPHA:96184
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, T... OMIM:598500
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Recurrent pneumonia, Decreased serum leptin, ... OMIM:614962
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Maturity-onset diabetes of the young, Diabetic keto... ORPHA:99886
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Hyperbilirubinemia, Nodular regenerative h... ORPHA:64743
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Polyphagia, Large for gestational age, Obesity, Eosinophilia OMIM:248100
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Failure to thrive, Neutrophilia, Hepatosplenomegaly, Acute hepatic fai... OMIM:619644
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Lack of facial subcutaneous fat, Small for gestational age, Insulin-... ORPHA:2959
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Atypical scarring of skin, O... ORPHA:791
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Rhinitis, Elevated circulating creatinine concentration, Anemia... ORPHA:230
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Griscelli Syndrome
Hepatomegaly, Leukopenia, Ascites, Abnormal circulating lipid concentration, White hair, Silver-g... ORPHA:381
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterolem... OMIM:212065
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Alopecia, Anemia, Splenomegaly, Dysgammaglobulinemia, Premature ovarian in... ORPHA:100025
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Hypertrichosis, Small for gestational age, Insulin-resistant ... OMIM:262190
Rhabdoid Tumor
Hypercalcemia, Weight loss, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Obesity, ... ORPHA:3085
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Prolidase Deficiency
Hepatomegaly, Eczema, Thrombocytopenia, Failure to thrive, Low posterior hairline, Anemia, Spleno... OMIM:170100
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Felty Syndrome
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media... ORPHA:47612
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Congenital Disorder Of Glycosylation, Type Ix
Decreased liver function, Thrombocytopenia, Cryptorchidism, Failure to thrive OMIM:615597
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, Cirrhosis, Elevate... OMIM:619662
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Alopecia, Recurrent skin infections, Recurr... OMIM:616576
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... ORPHA:465508
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Hypogonadotropic hypogonadism, Weight loss, Anemia, Hyperalaninemia, Cirrhos... ORPHA:298
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hepatomegaly, Pericarditis, Hepatic fibrosis, Ascites, Failure to thrive, We... OMIM:619487
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine k... OMIM:201475
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hirsutism, Insulin-resistant diabetes m... ORPHA:769
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic acidemia, Leukopenia, Failure to thrive... OMIM:251000
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Increased circulating ferritin concentration, Hepatosp... ORPHA:210136
Majeed Syndrome
Inflammatory abnormality of the skin, Erythroid hyperplasia, Failure to thrive, Osteomyelitis, He... OMIM:609628
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Elevated circulating cre... ORPHA:228305
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... OMIM:614300
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Interstitial Lung And Liver Disease
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Failure to thrive, Anemia, Hyperammonemia, Cirrho... OMIM:615486
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Jaun... ORPHA:108
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Anemia, Reduced subcutaneo... OMIM:609069
Shwachman-Diamond Syndrome
Sinusitis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Steatorrhea, Diabetes mellitus, ... ORPHA:811
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein AI concentration, H... ORPHA:650
Temple Syndrome
Type II diabetes mellitus, Polyphagia, Small for gestational age, Recurrent hypoglycemia, Cryptor... ORPHA:254516
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Anemia, Truncal obesity, Lymphopeni... OMIM:616541
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... OMIM:606176
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormality of th... ORPHA:398124
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Bone-marrow foam cells, Fatal liver failure in infancy, Hepatos... ORPHA:275761
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Fail... OMIM:256810
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thro... OMIM:610333
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... OMIM:232400
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture OMIM:618856
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Alopecia, Micronodular cirrhosi... ORPHA:98907
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Failure to thrive, Anemia, Hyperuricemia, Hypomagnesemia, Diabetes mell... OMIM:613845
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypergonadotropic hypogonadism, Failure to thrive, Long eyelashes, Neonatal hypoglyce... OMIM:606407
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Allergic rhinitis, Failure to thrive, Anemia, Splenomegaly, Jaundice, Steatorrhea, ... OMIM:612714
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia OMIM:611283
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycemia, Hypercholesterolemia, Left ventricular hypertrophy, Hypothyroidism, ... ORPHA:90065
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Fetal ascites, Neutropenia, Infectious encephalitis, Leukopenia, Hepat... ORPHA:292
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... ORPHA:369840
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hepatomegaly, Anemia, Hyperammonemia ORPHA:28
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Cachexia, Anemia, Splenomegaly, Hepatosplenomegaly, P... ORPHA:824
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Neutropenia, Hirsutism, Leukopenia, Low anterior hairline, Synophrys, Low posterior... OMIM:617303
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Splenomegaly, Periodontitis, Increased circulating ferri... ORPHA:167
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... ORPHA:567983
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Acne, Hyperinsulinemia OMIM:615363
Good Syndrome
Sinusitis, Dysphagia, Bronchiectasis, Decreased circulating antibody level, Anemia, Recurrent ski... ORPHA:169105
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Hypophosphatemia, Splenomegaly, Steatorrhea, Diabetes mellitu... ORPHA:699
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Dysphagia, Elevated hepatic transaminase OMIM:264470
Immunodeficiency 46
Neutropenia, Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, A... OMIM:616740
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia, Diabetes mellitus ORPHA:49827
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased ci... ORPHA:331206
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Ascites, Peritonitis, Hyperglycemia, Small for gestation... ORPHA:391673
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight OMIM:231000
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Jaundice, Hep... OMIM:238600
Leptin Receptor Deficiency
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... OMIM:614963
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Gamma-Heavy Chain Disease
Hepatomegaly, Dysphagia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombo... ORPHA:100026
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Acholic stools, Biliary tract abnormality, Splenomegaly, Jaundice, ... ORPHA:1414
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Stomatitis, Decreased circulating IgA level, Failure... OMIM:308230
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Esophagitis, Hepatic steatosis, Hepatosplenomegaly, Diabe... ORPHA:541423
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... ORPHA:2442
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Nail dystrophy, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... OMIM:600649
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Anemia, Malar rash, Serositis, ... ORPHA:231111
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, He... OMIM:261680
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Weight loss, Anemia, Splenomegaly, Increased circulating ant... ORPHA:100024
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase OMIM:617093
Gitelman Syndrome
Tubulointerstitial nephritis, Type I diabetes mellitus, Parathyroid adenoma, Graves disease, Type... ORPHA:358
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Low anterior hairline, Neonatal hyperbilirubinemia, Insulin resistance, Small for g... ORPHA:73272
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Polyphagia, Episodic hemolytic anemia, Abnormal dental enamel morphology, Increase... ORPHA:251004
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hypokalemi... OMIM:619573
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Jaundice, Anemia of i... ORPHA:231222
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Failure to thrive in infancy, Increased circulating IgD l... OMIM:610377
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites ORPHA:295
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopen... OMIM:249270
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Multiple lipomas ORPHA:529
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Hepatitis, Anemia, Arthrogryposis multiplex congenita, Cholestatic... ORPHA:440713
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Extr... OMIM:259720
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly, Decreased... OMIM:618838
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Small for gestational age, Failure to thrive, Anemia, Micronodula... OMIM:606003
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Inflammation of the large intestine, Elevated hepatic transaminase, Elevated circul... OMIM:614576
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly, Failure to thrive OMIM:618234
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Hepatocellular Carcinoma
Hypoglycemia, Hemobilia, Abnormality of the hepatic vasculature, Portal hypertension, Liver absce... ORPHA:88673
Familial Multiple Lipomatosis
Increased adipose tissue, Lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:199276
Abetalipoproteinemia
Keratoconjunctivitis sicca, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibros... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclerosing cholangitis, F... ORPHA:2137
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Hepatic hemangioma ORPHA:141179
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Ski... ORPHA:37748
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Thrombocytopenia, Sideroblastic anemia OMIM:617021
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... OMIM:201450
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Osteomyelitis, Hypocalcemia, Pancytopenia,... OMIM:259700
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Eunu... ORPHA:91
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Hirsutism, Failure to thrive, Recurrent otitis ... OMIM:617475
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Dengue Fever
Hypoproteinemia, Hepatomegaly, Leukopenia, Ascites, Skin rash, Thrombocytopenia ORPHA:99828
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor... ORPHA:77293
Tangier Disease
Hypocholesterolemia, Nail dystrophy, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Hy... ORPHA:31150
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Hemochromatosis Type 4
Congenital hepatic fibrosis, Increased circulating ferritin concentration, Cirrhosis, Hepatic ste... ORPHA:139491
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Type II diabetes mellitus, Hypercholesterolemia, Thick hair, Overweight ORPHA:401923
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia OMIM:613370
Nephrotic Syndrome, Type 7
Thrombocytopenia, Glomerulonephritis, Hemolytic anemia OMIM:615008
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Bone Marrow Failure Syndrome 4
Eczema, Leukopenia, Decreased circulating antibody level, Anemia, Thrombocytopenia OMIM:618116
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased hepatic glyco... OMIM:614921
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Tubulointerstitial nephritis, Failure to thrive, Hyperalaninemia, Hepatic steatosis... OMIM:614582
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocytes, Weight... ORPHA:20
Infantile Liver Failure Syndrome 3
Hepatomegaly, Hyperammonemia, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Tularemia
Leukocytosis, Pneumonia, Anemia, Increased circulating antibody level, Otitis media, Inflammatory... ORPHA:3392
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weig... OMIM:182290
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hy... OMIM:251110
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Weight loss, Anemia, Abnormal mas... ORPHA:98850
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... OMIM:616278
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Neonatal hypoglycemia, Bilateral... ORPHA:66634
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure, Elevated hepatic transaminase, T... OMIM:611126
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia, Nephritis ORPHA:3327
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia ORPHA:54057
Mirage Syndrome
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Hypoglycemia, Leukopenia, Anemia, Hypoplastic ... OMIM:617053
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Adrenal insufficiency, Anisopoikilocytosis, Decreased transferrin saturatio... ORPHA:300298
Wolfram Syndrome 1
Testicular atrophy, Dysphagia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Di... OMIM:222300
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash, Thrombocytopenia, Colitis OMIM:616744
Cinca Syndrome
Leukocytosis, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinophilia, Elevated c... OMIM:607115
Shigellosis
Myocarditis, Leukocytosis, Hyponatremia, Failure to thrive in infancy, Splenic abscess, Hypoglyce... ORPHA:810
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Nail dystrophy, Alopeci... ORPHA:90154
Hemochromatosis, Type 1
Testicular atrophy, Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Ascites, Glucos... OMIM:235200
Wt Limb-Blood Syndrome
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Cryptorchidism, Joint contracture o... OMIM:194350
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy... ORPHA:77259
Alg8-Cdg
Hyponatremia, Ascites, Small for gestational age, Failure to thrive, Anemia, Camptodactyly, Eleva... ORPHA:79325
Idiopathic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Peritonitis, Abnormal circulating lipid concentration, Hyperch... ORPHA:567548
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Failure to thrive, Anemia, Hyperglycinemia, Hy... OMIM:251100
Bloom Syndrome
Acute lymphoblastic leukemia, Sparse eyelashes, Decreased circulating antibody level, Adipose tis... ORPHA:125
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula... OMIM:259710
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Cachexia, Ascites, Bone-marrow foam cells, Anemia, Splenomeg... ORPHA:75233
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Chronic otitis media, Weight loss, Splenomegaly, Myel... ORPHA:3226
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Highly arched eyebrow, Hypoglycemia, Hirsutism, Low anterior ha... OMIM:220111
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hypopigmentation of hair, ... ORPHA:79477
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hepatomegaly, Hypoglycemia, Hyperglycemia, Weight loss, Hyperammone... ORPHA:134
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Hereditary Spherocytosis
Hepatomegaly, Gout, Anemia, Hyperbilirubinemia, Splenomegaly, Cholelithiasis, Maculopapular exant... ORPHA:822
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Failure to thrive, Abnor... ORPHA:90674
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:610582
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Blepharitis, Sea-blue histiocytosis ORPHA:158029
Estrogen Resistance Syndrome
Absence of pubertal development, Glucose intolerance, Acne, Absence of secondary sex characterist... ORPHA:785
Ddost-Cdg
Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic tra... ORPHA:300536
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Eczema, Decreased proportion of CD8-positive T cells OMIM:614493
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Anemia, Hyperuricemia, Hyperammonemia, Decreased plasma carnitine OMIM:246450
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Nasal chondritis, Chondritis of pinna, N... OMIM:301054
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Failure to th... ORPHA:79322
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Increased circulating myelocyte c... ORPHA:36234
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormality of the endocrine system, Giant platelets OMIM:608404
Aceruloplasminemia
Aceruloplasminemia, Anemia, Decreased serum iron, Increased circulating ferritin concentration, D... OMIM:604290
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Glucose intolerance, Nail dystrophy, Sparse eyebrow, Generalized lipodystrophy, Mac... OMIM:619127
Reticular Dysgenesis
Leukopenia, Chronic otitis media, Failure to thrive, Weight loss, Decreased circulating antibody ... ORPHA:33355
Smith-Kingsmore Syndrome
Hypoglycemia, Decreased circulating IgA level, Large for gestational age, Curly hair, Thrombocyto... OMIM:616638
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Cryptorchidis... OMIM:614857
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypertrichosis, Hypokalemia, Insulin ... ORPHA:508
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, T... ORPHA:228308
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia, Decreased testicular size OMIM:601815
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Decreased liver functio... OMIM:618835
Secondary Short Bowel Syndrome
Central hypothyroidism, Polyphagia, Failure to thrive, Weight loss, Primary hypothyroidism, Steat... ORPHA:95427
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Failure to thrive, Decreased liver function, Hepatic steatosis, Hypopigmentation of hair ORPHA:70472
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hypocalcification of dental enamel, Pneumonia, Chronic otitis media, Amelogenesis i... ORPHA:169090
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Decreased liver functio... OMIM:618839
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Ascites, Weight loss, Anemia, Stea... ORPHA:2070
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Cryptorchidism, Decreased testicular size, Normochromic microcy... OMIM:610198
Noonan Syndrome 12
Atopic dermatitis, Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymph... OMIM:618624
Stormorken Syndrome
Asplenia, Elevated circulating creatine kinase concentration, Anemia, Howell-Jolly bodies, Thromb... OMIM:185070
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Neutral Lipid Storage Myopathy
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Hepatic steatosis,... ORPHA:98908
Cyclic Neutropenia
Sinusitis, Peritonitis, Periodontitis, Perianal abscess, Otitis media, Recurrent skin infections,... ORPHA:2686
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, N... OMIM:212138
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hirsutism, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Beta-Thalassemia Major
Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Diab... ORPHA:231214
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus OMIM:601410
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Elevated circulating C-reactiv... OMIM:614034
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Anemia, Abnormality of the pancreas, Neutrophilia, Abnormal testis morphology, Eleva... ORPHA:54251
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Skin rash, Hepatic failure ORPHA:49566
Vipoma
Increased circulating cortisol level, Normochromic anemia, Primary hyperparathyroidism, Diabetes ... ORPHA:97282
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hypokalemia, Hepatic fibrosis, Failure to thri... OMIM:619377
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98855
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hyponatremia, Thrombocytopenia, Goiter, Hypothyroidism, Hashimoto thyroiditis ORPHA:83601
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Arthrogryposis multiplex congenita, Splenomegaly, Flexio... ORPHA:85212
Holocarboxylase Synthetase Deficiency
Eczema, Perioral eczema, Weight loss, Alopecia, Hyperammonemia, Thrombocytopenia, Keratoconjuncti... ORPHA:79242
Monosomy 13Q34
Insulin resistance, Horizontal eyebrow, Hepatic steatosis, Infantile hypercalcemia, Obesity ORPHA:96168
Wolcott-Rallison Syndrome
Central hypothyroidism, Hyponatremia, Hepatomegaly, Neutropenia, Ascites, Iron deficiency anemia,... ORPHA:1667
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Nephritis, Arthritis, Malar rash, Thrombocytopenia, He... OMIM:152700
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Small for gestational age, Elevated hepatic transaminase, Failure to t... OMIM:260400
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Failure to thrive, Anemia, Glycosuria, Diffuse hepatic steatosis, Decreased liver f... ORPHA:436271
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated ... ORPHA:90301
Brucellosis
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Elevated circula... ORPHA:1304
Muckle-Wells Syndrome
Hernia of the abdominal wall, Hepatomegaly, Episcleritis, Anemia, Arthritis, Splenomegaly, Uveiti... ORPHA:575
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Normochromic anemi... OMIM:618775
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Failure to thrive, B... OMIM:619525
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Decreased circulating antibody level, Splenomegaly, Hepatosplenomegaly, Type I diabetes m... OMIM:615688
Short Syndrome