Gene Summary

Name:
G protein-coupled bile acid receptor 1
Synonyms:
GPR131,  M-BAR,  TGR5,  BG37

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
enlarged heart Gpbar1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal kidney morphology Gpbar1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Gpbar1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal lymph node morphology Gpbar1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Gpbar1tm1.1(KOMP)Vlcg HOM Early adult 0.00
small testis Gpbar1tm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Colon  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Adult LacZ

LacZ Images Section

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Gpbar1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Gpbar1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Hypertriglyceridemia 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:619324
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice OMIM:224100
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Intrahepatic cholestasis, Hepatomegaly, Jaundice OMIM:605479
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease, Pancreatitis,... ORPHA:65682
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea ORPHA:309108
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:222800
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Pigment gallstones OMIM:613470
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia OMIM:232700
Alpha-Thalassemia
Cholelithiasis, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:266200
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice OMIM:182900
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes, Infertility OMIM:136580
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Perineal hypospadias, Cryptorchidism, Micropenis, Testicular dysgenesis, Amb... OMIM:615542
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Ethanolaminosis
Cardiomegaly OMIM:227150
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Splenome... ORPHA:567983
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:611881
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly ORPHA:848
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Failure to thrive, Hyperbil... OMIM:605814
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Obesity, Hypertriglyceridemia, Increased LDL cholesterol concentration, Dec... OMIM:615703
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hepatitis OMIM:194380
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Excessi... ORPHA:324575
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hypercholesterolemia, Hypocalcemia, Generalized lipodystrophy, Reduced subcutaneou... OMIM:612526
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperin... ORPHA:276580
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Giant cell hepatitis, Elevated hepatic transaminase, Cholestatic liver disease ORPHA:79095
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin response to glucagon test, Type I ... ORPHA:276575
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia OMIM:616033
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atretic gallbladder, ... ORPHA:30391
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:171876
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Decreased liver function, Splenomeg... ORPHA:231222
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Annular ... OMIM:615710
Sialuria
Cholelithiasis, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatomegaly ORPHA:3166
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Sickle Cell Anemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:603903
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Prolonged neonatal jaundice, Portal hypertension OMIM:604901
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Elevated hepatic transaminase OMIM:614886
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... OMIM:601346
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Ppoma
Cholelithiasis, Primary hyperparathyroidism, Hepatomegaly, Extrahepatic cholestasis, Increased ci... ORPHA:97278
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus at puberty, Hyper... ORPHA:280356
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Jaundice ORPHA:288
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity... OMIM:616222
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice OMIM:245550
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Primary Sclerosing Cholangitis
Cholelithiasis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cirrhosis, Cholangiocarcino... ORPHA:171
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Growth Hormone Insensitivity Syndrome
Failure to thrive, Hypercholesterolemia, Truncal obesity ORPHA:181393
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:822
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Grfoma
Cholelithiasis, Primary hyperparathyroidism, Hepatomegaly, Extrahepatic cholestasis, Increased ci... ORPHA:97261
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:615512
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnormal response to glucagon stim... ORPHA:79644
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... ORPHA:457083
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Bile duct proliferation, Hepatomegaly, Asplenia... OMIM:208540
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Hypoparathyroidism, Asplenia, Chronic active hepatitis, Prem... OMIM:240300
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Cystic liver disease, Hepatic fibrosis, Hepatic cysts OMIM:612284
Cerebrotendinous Xanthomatosis
Cholelithiasis, Xanthelasma OMIM:213700
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Cholestasis-Lymphedema Syndrome
Portal hypertension, Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormal... ORPHA:1414
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Type II diabetes melli... OMIM:604367
Immunodeficiency 75
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Excessive insulin response to glucagon test, Recurrent hypoglycemia, React... ORPHA:276556
Inflammatory Pseudotumor Of The Liver
Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography, Elevated ... ORPHA:90003
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Pancreatic cysts, Bile d... OMIM:267010
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Interface hepatitis, Gra... ORPHA:562639
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Splenomegaly ORPHA:3202
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insulin level, T... ORPHA:552
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Cryptorchidism, Decreased testicular size OMIM:300534
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Hyperinsulinemia ORPHA:791
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Hypoplastic nipples, Steato... OMIM:618268
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hypercholesterolemia, Loss of truncal subcutaneous adipose tissue, Increased facia... OMIM:151660
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618495
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Kerion Celsi
Lymphadenopathy ORPHA:499
Metachromatic Leukodystrophy
Cholecystitis, Gallbladder dysfunction OMIM:250100
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... OMIM:616828
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Hypercholesterolemia, Contractures of the large jo... ORPHA:2457
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Cirrhosis ORPHA:774
Dubin-Johnson Syndrome
Biliary tract abnormality, Abnormality of the liver, Hepatomegaly, Jaundice ORPHA:234
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Dilated cardiomyopathy, Lymphadenopathy OMIM:615895
Caroli Syndrome
Hepatic failure, Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:480520
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly, Testicular at... OMIM:235200
Somatostatinoma
Gallbladder dysfunction, Primary hyperparathyroidism, Hepatomegaly, Extrahepatic cholestasis, Inc... ORPHA:97283
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... ORPHA:131
Attrv30M Amyloidosis
Impotence, Cardiomyopathy, Abnormal renal physiology, Nephropathy, Cardiomegaly ORPHA:85447
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Steatorrhea, Decrea... OMIM:246700
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:319487
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Cholestasis, Adrenocorticotropic hormone deficiency OMIM:201400
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... OMIM:207750
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:97290
Alpha-Heavy Chain Disease
Hepatomegaly, Premature ovarian insufficiency, Splenomegaly, Lymphadenopathy ORPHA:100025
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Nephrotic syndrome, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Left ventricular ... OMIM:617713
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, Gl... ORPHA:785
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Chronic noninfectious lymphadenopa... ORPHA:100083
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, In... ORPHA:2298
Congenital Generalized Lipodystrophy
Lipodystrophy, Increased C-peptide level, Hypercholesterolemia, Adipose tissue loss, Failure to t... ORPHA:528
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Elevate... OMIM:203700
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell ... ORPHA:263455
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasis, Inter... ORPHA:100086
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Cholecystitis, Hepatosplenomegaly, Hepatomegaly OMIM:301066
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Hyperlipidemia, Decreased liver function, Splenomegaly, Hepatome... ORPHA:77293
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism, Glucose intolerance OMIM:144600
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Nephropathy ORPHA:100024
Granulomatous Slack Skin
Abnormality of the lymph nodes, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly OMIM:263700
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Distal Trisomy 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Galactokinase Deficiency
Hypergalactosemia, Small for gestational age, Hypercholesterolemia, Failure to thrive, Increased ... ORPHA:79237
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly ORPHA:586
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... OMIM:308700
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology ORPHA:512
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis ORPHA:464738
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotrop... OMIM:308750
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, ... OMIM:618652
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality of the spleen ORPHA:543
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Lymphadenopathy ORPHA:858
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased liver function, Elevated hep... OMIM:618329
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Hypercholesterolemia, Small for gestational age, Truncal obesity ORPHA:96184
Smith-Magenis Syndrome
Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Obesity, Hypercholesterolemia ORPHA:77296
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Decreased gl... ORPHA:85450
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatosplenomegaly, Generalized lymphadenopathy, Splenomegaly, Mediastinal ly... OMIM:615559
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Precocious puberty, Po... OMIM:246200
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Decreased body... ORPHA:247585
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Hardikar Syndrome
Hepatic failure, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangitis, Bile duct pro... OMIM:301068
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... OMIM:238600
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Portal hypertension, Hepatosplenomegaly, Periportal fibrosis, Cholestasis, Cholan... ORPHA:731
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Testicular atrophy OMIM:613987
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Jaundice OMIM:210550
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas ORPHA:97297
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Infantile Sialic Acid Storage Disease
Cardiomegaly, Nephrotic syndrome, Hepatomegaly, Splenomegaly OMIM:269920
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiomegaly, Atrial septal defect, Abnormal mitral valve mo... ORPHA:860
Dysbetalipoproteinemia
Hypercholesterolemia, Obesity, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol conce... ORPHA:412
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:83469
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Cryptorchidism, Pancreatic hypoplasia, Hepatomegaly, Biliary hyperplasia ORPHA:83617
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Cryptorchidism, Biliary tract abnormality, Asplenia OMIM:156810
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Symptomatic Form Of Hemochromatosis Type 1
Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Mediastin... ORPHA:97289
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jaundice, Pancreatic fibrosi... OMIM:208500
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Abnormality of the lymph nodes, Abnormality of the lymphatic system ORPHA:54251
Wolfram Syndrome 1
Hydroureter, Hypothyroidism, Diabetes insipidus, Hydronephrosis, Testicular atrophy, Cardiomyopat... OMIM:222300
Pentalogy Of Cantrell
Polysplenia, Absent gallbladder ORPHA:1335
Timothy Syndrome
Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly OMIM:601005
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Proteinuria, Splenomegaly, Hepatomegaly, Increa... OMIM:256550
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia OMIM:602579
Cerebrotendinous Xanthomatosis
Cholelithiasis, Prolonged neonatal jaundice ORPHA:909
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Abnormality of the spleen, Hepatic fibrosis ORPHA:2072
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:240500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Splenomegaly, Hepatomegaly, Thyroiditis, Lymphadenopathy OMIM:619375
D-Bifunctional Protein Deficiency
Hepatic steatosis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Elevated hep... OMIM:261515
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:603552
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... OMIM:252920
Steinfeld Syndrome
Absent gallbladder OMIM:184705
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, Cardiomegaly, ... ORPHA:324410
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadeno... OMIM:609981
Intrahepatic Cholestasis Of Pregnancy
Abnormality of the pancreas, Abnormal pineal melatonin secretion, Cholecystitis, Jaundice, Elevat... ORPHA:69665
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Steinert Myotonic Dystrophy
Cholelithiasis, Hypercholesterolemia, Ovarian carcinoma, Testicular atrophy, Secondary hyperparat... ORPHA:273
Immunodeficiency 64
Hepatosplenomegaly, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Noncompaction cardiomyopathy ORPHA:353298
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular hypertrophy, Ventricular septal hypertroph... OMIM:115197
Lathosterolosis
Bilobate gallbladder, Intrahepatic cholestasis, Hepatosplenomegaly, Elevated hepatic transaminase OMIM:607330
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Azoospermia, Micropenis, Pancreatic hypoplasia, Atrial septal defect, Splenom... OMIM:602782
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:300853
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
22Q11.2 Deletion Syndrome
Cholelithiasis, Cryptorchidism, Splenomegaly, Hypoparathyroidism, Hypoplasia of the thymus ORPHA:567
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Decrea... OMIM:203800
Pseudo-Torch Syndrome 3
Acute kidney injury, Cardiomegaly, Lymphadenitis, Proteinuria OMIM:618886
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Cholestasis, Cholangitis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:613610
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormality of mesentery morphology, Abnormality of the gallbladder ORPHA:2075
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Smith-Magenis Syndrome
Hypertriglyceridemia, Obesity, Failure to thrive in infancy, Hypercholesterolemia ORPHA:819
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of th... ORPHA:2869
Lymphatic Filariasis
Nephrotic syndrome, Lymphadenitis, Hematuria, Orchitis, Proteinuria, Lymphangiectasis, Glomerulon... ORPHA:2035
Cold Agglutinin Disease
Hepatomegaly, Abnormal urinary color, Lymphadenopathy, Splenomegaly ORPHA:56425
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Triploidy
Hepatomegaly, Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder ORPHA:3376
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria, Cervical lymphadenopathy, Hepatomegaly, Nephritis, Asplenia, Lymphadenopathy OMIM:614034
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:210250
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial necrosis, Cardiomegaly, Myocardia... OMIM:300257
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis OMIM:212140
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Pericarditis ORPHA:85414
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Patent foramen ovale, Abno... ORPHA:555874
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:2584
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of the lymph nodes, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612840
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Abnormal heart morphology, Ventricular septal defect, ... ORPHA:3092
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperglycemia, Impaired glucose tolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:248370
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Cardiomegaly, Hepatomegaly OMIM:600649
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:209950
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Thyroid Lymphoma
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Lymphadenopathy, Goiter ORPHA:97285
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:37748
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Roifman Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy, Ventricular septal defect, Noncompaction cardiomyopathy OMIM:616651
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia,... ORPHA:71212
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Lig4 Syndrome
Hypothyroidism, Cryptorchidism, Hypoplasia of penis, Hepatomegaly, Lymphadenopathy, Type II diabe... ORPHA:99812
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Cystic Echinococcosis
Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruction, Hepatomeg... ORPHA:400
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:607594
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Digeorge Syndrome
Cholelithiasis, Hepatic steatosis, Parathyroid agenesis, Splenomegaly, Ovarian cyst, Hypoplasia o... OMIM:188400
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Impotence, Cardiomyopathy OMIM:105210
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Craniofacioskeletal Syndrome
Cryptorchidism, Absent gallbladder OMIM:300712
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Failure to thrive, Hype... ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hypertriglyceridemia, ... ORPHA:79240
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:79086
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hydronephrosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly,... OMIM:616897
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Adrenocortical carcinom... OMIM:130650
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Hypertriglyceridemia, Hype... ORPHA:370
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Medullary Thyroid Carcinoma
Elevated calcitonin, Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, ... ORPHA:1332
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level OMIM:618838
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Failure to thrive, Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal ... ORPHA:90674
Trisomy 8P
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98848
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Abnormality of the ductus choledochus, Hepatitis, Peritoneal abscess ORPHA:436252
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Refsum Disease, Classic
Cardiomegaly, Abnormal renal physiology, Cardiomyopathy OMIM:266500
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... OMIM:619525
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Hypertrophic cardiomyopathy, Ventricular hypertrophy OMIM:619051
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Cardiomegaly, Ventricular septal defect, Overriding aorta OMIM:617022
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Portal hypertension, Cholestasis, Bile duct proliferation, Decreased liver fun... OMIM:613658
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Renal tubular acidosis, Hepatomegaly OMIM:255120
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomegaly, Aortic val... OMIM:231005
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Cantu Syndrome
Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Pericardial effusion OMIM:239850
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Mogs-Cdg
Hypothyroidism, Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Inappropr... ORPHA:79330
American Trypanosomiasis
Splenomegaly, Hepatomegaly, Myocarditis, Cardiomyopathy, Lymphadenopathy ORPHA:3386
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia OMIM:613327
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, ... ORPHA:2255
Omenn Syndrome
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:603554
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Lymphadenopa... ORPHA:36412
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Prader-Willi Syndrome
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