Gene Summary

Name:
low density lipoprotein receptor
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular volume Ldlrtm1b(EUCOMM)Wtsi HOM Early adult 6.39×10-07
increased circulating cholesterol level Ldlrtm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating iron level Ldlrtm1b(EUCOMM)Wtsi HOM Early adult 7.69×10-06
increased grip strength Ldlrtm1b(EUCOMM)Wtsi HOM   Early adult 2.16×10-05
decreased circulating unsaturated transferrin level Ldlrtm1b(EUCOMM)Wtsi HOM Early adult 2.60×10-06
hypoactivity Ldlrtm1b(EUCOMM)Wtsi HOM Early adult 9.78×10-05
increased circulating HDL cholesterol level Ldlrtm1b(EUCOMM)Wtsi HOM Early adult 1.24×10-19

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis OMIM:143890
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Cerebral artery atherosclerosis, Hyperlipidemia, Increased LDL choleste... ORPHA:391665

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypertriglycerid... OMIM:603813
Sitosterolemia 2
Hypercholesterolemia, Premature coronary artery atherosclerosis, Elevated circulating sitosterol ... OMIM:618666
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration OMIM:604091
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Increased LDL cholesterol concentration, Hypertriglyceridemia, Type IV athe... OMIM:144300
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Precocious atherosclerosis, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Precocious atherosclerosis, Hypertriglyceridemia OMIM:145750
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Arterial Dissection With Lentiginosis
Cystic medial necrosis, Arterial dissection OMIM:600459
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Arteriosclerosis, Hypertriglyceridem... ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Foam cells, Hypertriglyceridemia OMIM:245900
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... OMIM:607616
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:615703
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Increased LDL cholesterol concentration, Acute hepatic steatosis, He... ORPHA:209902
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Premature coronary artery atherosclerosis, Hypertriglyceridemia, Increased HDL cholesterol concen... ORPHA:140905
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Xanthelasma, Coronary artery atherosclerosis, Increased LDL cholesterol con... OMIM:144010
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, S... OMIM:278000
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration, Iron deficienc... OMIM:300752
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hirsutism, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegal... OMIM:612526
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Loss of subcutaneous adipose tissue i... OMIM:604367
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Accelerated atherosclerosis, Increased LDL cholesterol c... OMIM:618620
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Atherosclerosis, Dilatation of the cerebral artery ORPHA:91135
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Accelerated atherosclerosis, Type IV ather... ORPHA:412
Lcat Deficiency
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Decreased cir... ORPHA:650
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Central hypothyroidism, Decreased circulating free T4 level, Inappropriatel... OMIM:301033
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... OMIM:605814
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Hepatomegaly, Insulin resistance, Cognitive impairment, Re... ORPHA:363400
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... OMIM:610717
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... ORPHA:436182
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia, Mental deterioration OMIM:615924
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Premature coro... ORPHA:425
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Ascending tubular aorta aneurysm, Premature coronary artery atherosclerosis,... OMIM:611788
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... ORPHA:2348
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Portal fibrosis, Hyperlipidemia, Increased hepatic ... ORPHA:369
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Failure to thrive, Hyp... ORPHA:71212
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... ORPHA:324575
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failure to thriv... ORPHA:181393
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration, Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... OMIM:232400
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice OMIM:224100
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... OMIM:235700
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... ORPHA:209943
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
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... ORPHA:528
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Splenomegaly, Lipoatrophy, Diabetes mellitus, Minimal s... ORPHA:280365
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Cerebral berry aneurysm, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ... OMIM:615234
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Oculotrichodysplasia
Dry skin, Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General... OMIM:257960
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... ORPHA:79237
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Patent d... OMIM:616000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Neonatal Hemochromatosis
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin c... ORPHA:446
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis ORPHA:2724
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr... OMIM:616468
Fish-Eye Disease
Decreased HDL cholesterol concentration, Atherosclerosis ORPHA:79292
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:276580
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... OMIM:182900
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... OMIM:603471
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal circulating lipid concentration, Weight loss, Lipodystrophy, Hyperlipoproteine... ORPHA:1979
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function, Microcytic anemia, Abnormal circulating porp... ORPHA:79278
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Tangier Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Nail dystrophy, Splenomegaly, Nail dysplas... OMIM:205400
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,... OMIM:232800
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice OMIM:605479
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Hyperpigmentation of the skin, Anemia, Elev... OMIM:613313
Neovascular Glaucoma
Abnormality of the optic nerve, Abnormality of central retinal artery, Retinal vascular prolifera... ORPHA:94058
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Ascending tubular aorta aneurysm, Carotid artery stenosis, Cystic medial necro... OMIM:132900
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hypoglycemia, Hepatocellular necrosis, Hep... OMIM:231100
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Ci... OMIM:271500
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, I... OMIM:300635
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Failure to thrive, Decreased response to growth hormone stimulatio... ORPHA:71526
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis OMIM:143890
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hy... OMIM:603552
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Retinal exudate OMIM:613310
Porphyria Cutanea Tarda
Increased serum iron, Hirsutism, Hypertrichosis, Elevated hepatic iron concentration, Hepatocellu... ORPHA:101330
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... OMIM:203800
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... OMIM:602579
Hyperbiliverdinemia
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Abnormal ery... ORPHA:264580
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... ORPHA:276556
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:370
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... OMIM:616860
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Ascites, Failure ... OMIM:251880
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Dry skin, Cutis laxa, Alopecia of scalp, Sparse eyebrow, Scaling ski... ORPHA:2269
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy OMIM:616188
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hepatomegaly, Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level OMIM:609016
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... ORPHA:2089
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... ORPHA:65682
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... ORPHA:79319
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Steppage gait, Ataxia, Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Type IV atherosclerotic lesion, Li... ORPHA:90970
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Increased mean corpuscu... OMIM:277410
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Cholelithiasis ORPHA:309108
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Familial Cerebral Saccular Aneurysm
Aortic dissection, Abnormal circle of Willis morphology, Cerebral berry aneurysm, Aortic root ane... ORPHA:231160
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Generalized hyperp... ORPHA:79230
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Retinal Detachment
Retinal detachment OMIM:180050
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture OMIM:618856
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment OMIM:212550
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Abnormal hemoglobin, Cholelithiasis, An... ORPHA:848
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... ORPHA:79240
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Aortic root aneurysm, Absent eyebrow, Aortic atheroscl... ORPHA:363618
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Ketotic hypoglycemia, Elevated circulating acylcarnitine concen... ORPHA:26792
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... OMIM:606069
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Dementia, Cognitive impairment, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbum... OMIM:208920
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Hypoproteinemia, Hepatomegaly, Hypoketotic hypoglycemia, Sm... ORPHA:26793
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Morgagni-Stewart-Morel Syndrome
Cognitive impairment, Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, D... ORPHA:77296
Congenital Glaucoma
Retinal detachment ORPHA:98976
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hirsutism, Hype... ORPHA:189439
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Hypertriglyceridemia, Adrenocorti... OMIM:307030
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Alopecia OMIM:615604
Niemann-Pick Disease, Type C2
Dystonia, Dementia, Hepatomegaly, Abnormal circulating cholesterol concentration, Bone-marrow foa... OMIM:607625
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Coronary artery stenosis OMIM:615812
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Familial Chylomicronemia Syndrome
Dementia, Hyperlipidemia, Lipemia retinalis, Failure to thrive, Recurrent pancreatitis, Jaundice,... ORPHA:444490
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Retinal degeneration, Hepatic fibrosis, Glucose intolerance, Impaired glucose toler... OMIM:615630
Coach Syndrome 2
Chorioretinal coloboma, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated ... OMIM:619111
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellit... ORPHA:411593
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hyperglycemia, Cognitive impairment, Progressive neurologic deterioration, Hypercho... ORPHA:90065
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Bone-marrow foam cells, Hepatos... ORPHA:275761
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Cog4-Cdg
Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, Hepatosplenomegaly, Thick hair, ... ORPHA:263501
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia, El... OMIM:619013
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... ORPHA:276608
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hypogonadism, Hepatic steatosis, Lack of skin elasticity, Hypertriglyceridemia, Dia... OMIM:615381
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty ORPHA:254531
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Splenomegaly, Increased circulating ferritin concen... OMIM:613101
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Type II diabetes mellitus, Giant cell hepatitis, Elevated circulating cre... ORPHA:79095
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, ... OMIM:619048
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Generalized aminoaciduria, Hepatocellular carcinoma, Increase... ORPHA:2088
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Insulin resistance ORPHA:79087
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Ascites, Failure to thrive, Cirrhosis, Cholestasi... OMIM:617156
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Sp... ORPHA:53035
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypoglycemia, Hypogonadism, Ataxia, Hypertriglyceridemia, Lymphopenia, Hyp... OMIM:617575
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Hereditary Elliptocytosis
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbi... ORPHA:288
Tangier Disease
Carotid artery stenosis, Accelerated atherosclerosis, Coronary artery stenosis, Hypocholesterolem... ORPHA:31150
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity, Type II diabetes mellitus, Iris coloboma ORPHA:2377
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Psoriasiform lesion, Elevated creatine kinase after exercise, Abnormal lactate deh... ORPHA:284426
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... OMIM:616278
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... ORPHA:2722
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Anemia, Hyperb... ORPHA:158057
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Delayed... ORPHA:633
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level, Progres... ORPHA:941
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Cerebral artery atherosclerosis, Hyperlipidemia, Increased LDL choleste... ORPHA:391665
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619386
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Coarctation of aorta, Hyperbilirubinemia, Decreased liver function, Hepatic stea... OMIM:614300
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Dry skin, Erythema, Concave nail, Scaling skin, Palmoplantar scaling skin ORPHA:530838
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Elevated circulating creatine kinase concentration, Decreased c... OMIM:613327
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Hepatitis, Anemia, Splenomegaly, Decreased liver function, Increased c... ORPHA:158061
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Panbronchiolitis, Diffuse
Foam cells OMIM:604809
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Beta-Thalassemia Intermedia
Hepatomegaly, Hypoparathyroidism, Leukocytosis, Abnormality of iron homeostasis, Elevated hepatic... ORPHA:231222
Flynn-Aird Syndrome
Dementia, Cachexia, Type II diabetes mellitus, Primary adrenal insufficiency, Ataxia, Abnormality... ORPHA:2047
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arterial fibromuscular dysplasia, Arteriosclerosis, Vasc... ORPHA:494424
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Gm1-Gangliosidosis, Type Iii
Foam cells OMIM:230650
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Decreased response to growth hormone stimulation test, Hyperbilirubinemia,... OMIM:609734
Bardet-Biedl Syndrome 6
Obesity, Retinal dystrophy, Diabetes mellitus, Rod-cone dystrophy OMIM:605231
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... ORPHA:247598
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hirsutism, Primary hypercortisolism, Increased circulating cortisol level, A... OMIM:615830
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Cardiomegaly, ... OMIM:212140
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Howell-Jolly bodies, Cerebral atroph... OMIM:613759
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Acute pancreatitis, Cerebral atrophy, Basal ganglia calcification, Hemolytic ... OMIM:619487
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Atherosclerosis OMIM:610842
Obesity Due To Sim1 Deficiency
Glucose intolerance, Cognitive impairment, Postural hypotension with compensatory tachycardia, Ob... ORPHA:369873
Hypotrichosis Simplex Of The Scalp
Fine hair, Alopecia of scalp, Slow-growing scalp hair, Scaling skin, Sparse scalp hair, Epidermal... ORPHA:90368
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Small for gestational age... ORPHA:1830
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocell... ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Gliosis, Increa... OMIM:220111
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Dominant Beta-Thalassemia
Adrenal insufficiency, Hyperpigmentation of the skin, Splenomegaly, Hypersplenism, Hepatosplenome... ORPHA:231226
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity, Cognitive impairment, Rod-cone dystrophy OMIM:615989
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Coronary artery aneurysm, Abdominal aortic aneurysm, Ascending aortic... OMIM:615436
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine k... OMIM:201475
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Abnormality of retinal pigmentation, Ascites, Cogniti... ORPHA:858
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Cutis laxa, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, El... OMIM:301045
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Generalized aminoaciduria, Hypoglycemia, Hyperinsulinemia OMIM:606528
Acquired Generalized Lipodystrophy
Hepatomegaly, Generalized hyperpigmentation, Insulin resistance, Insulin-resistant diabetes melli... ORPHA:79086
Smith-Magenis Syndrome
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Incr... OMIM:182290
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Retinal dystrophy, Rod-cone dystrophy, Macular de... OMIM:616629
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Optic atrophy, Hepatosplenomegaly, Hepatic fibrosis ORPHA:466794
Peeling Skin Syndrome 1
Onycholysis, Brittle hair, Erythema, Abnormality of hair texture, Scaling skin OMIM:270300
Dpm1-Cdg
Hypoplasia of the frontal lobes, Hepatomegaly, Optic atrophy, Hepatic fibrosis, Elevated circulat... ORPHA:79322
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... OMIM:246200
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Weight loss, Primary hypothyroidism, Steatorrhea, Chol... ORPHA:95427
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Rod-cone dystrophy, Hepatosplenomegaly, Intrahepatic bi... OMIM:618955
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Double outlet right ventricle, Cholelit... OMIM:614886
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Cholelithiasis, Splenomegaly, Retinopathy, Increased red cell sicklin... OMIM:603903
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... OMIM:267700
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Type II diabetes mellitus, Hypogonadism, Abno... ORPHA:791
Bardet-Biedl Syndrome 10
Retinal dystrophy, Cognitive impairment, Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615987
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Persistent left superior vena cava, Normochro... OMIM:618775
Bardet-Biedl Syndrome 5
Cognitive impairment, Macular dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity OMIM:615983
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Beta-Thalassemia Major
Adrenal insufficiency, Anisopoikilocytosis, Hyperpigmentation of the skin, Splenomegaly, Hyperspl... ORPHA:231214
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Cognitive impairment, Anemia, Rod-cone dystrophy, Cholestasis, Mi... OMIM:266920
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Eosinophilia, Jaundice OMIM:234350
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Hyperbilirubinemia, Cholesterol gallstones... ORPHA:521219
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D... ORPHA:3361
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemoly... ORPHA:444463
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Cerebral atrophy ORPHA:306550
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... ORPHA:96184
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Anemia, Arthritis, Acute hepatitis, Sple... ORPHA:905
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceri... OMIM:618398
Porphyria Cutanea Tarda, Type I
Eczema, Hyperpigmentation of the skin, Hepatic fibrosis OMIM:176090
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Esophagitis, Hepatic steatosis, Hepatosplenomegaly, Diabe... ORPHA:541423
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment, Retinal dystrophy, Rod-cone dystrophy OMIM:615995
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Failure to thrive, Hyper... OMIM:607765
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Foam cells, Abnormal circulating protein concentration ORPHA:264675
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Gaisböck Syndrome
Hyperproteinemia, Obesity, Increased red blood cell count, Hyperuricemia, Hypercholesterolemia, O... ORPHA:90041
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Hemochromatosis Type 4
Generalized hyperpigmentation, Congenital hepatic fibrosis, Cirrhosis, Increased circulating ferr... ORPHA:139491
Hepatoportal Sclerosis
Hepatocellular carcinoma, Leukopenia, Ascites, Cognitive impairment, Anemia, Hyperbilirubinemia, ... ORPHA:64743
Griscelli Syndrome
Hypopigmented skin patches, Hepatomegaly, Leukopenia, Ascites, Abnormal circulating lipid concent... ORPHA:381
Bardet-Biedl Syndrome 1
Aganglionic megacolon, Retinal degeneration, Hepatic fibrosis, Insulin resistance, Retinal dystro... OMIM:209900
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Facioscapulohumeral Muscular Dystrophy 1
Elevated circulating creatine kinase concentration, Exudative retinal detachment, Retinal telangi... OMIM:158900
Porphyria Cutanea Tarda
Onycholysis, Hepatocellular carcinoma, Alopecia, Facial hypertrichosis, Cirrhosis OMIM:176100
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea,... OMIM:613812
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98855
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoie... ORPHA:822
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Patent... ORPHA:290
Paget Disease Of Bone 6
Coronary artery atherosclerosis OMIM:616833
Triosephosphate Isomerase Deficiency
Optic disc pallor, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic ... OMIM:615512
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Hypergonadotropic hypogonadism, Hypocholesterolem... OMIM:212065
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Hyperinsulinemia, Tall stature ORPHA:2849
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Cachexia, Hypoglycemia, Elevated circulating creatine kinase... ORPHA:42
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia OMIM:114580
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Cognitive impairment, Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Cyanosis And Hepatic Disease
Hepatitis, Abnormal abdomen morphology OMIM:219400
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hypoglycemia, Splenomegaly, Neonatal hypoglycemia, Accessory sp... OMIM:619418
Bardet-Biedl Syndrome 16
Retinal degeneration, Cognitive impairment, Recurrent otitis media, Rod-cone dystrophy, Hypogonad... OMIM:615993
Chylomicron Retention Disease
Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorrhea, Ele... ORPHA:71
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Niemann-Pick Disease, Type C1
Dystonia, Dementia, Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Splenom... OMIM:257220
Congenital Isolated Acth Deficiency
Hyponatremia, Hepatitis, Neonatal hypoglycemia, Adrenal hypoplasia, Adrenocorticotropin deficient... ORPHA:199296
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Hypergonadotropic hypogonadism, Alopecia, Woolly hair, Decreased testicular size OMIM:601217
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased hepatic glyco... OMIM:614921
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Precocious atherosclerosis OMIM:176670
Trichodysplasia-Xeroderma
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Alopecia, Nail dysplasia, Delay... OMIM:615704
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Late-Onset Isolated Acth Deficiency
Hypoglycemia, Hepatitis, Type I diabetes mellitus, Adrenocorticotropin deficient adrenal insuffic... ORPHA:199299
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Optic atrophy, Rod-cone dystrophy, Diffuse hepatic steatosis, Pigmentary retinopath... OMIM:264470
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Aortic Aneurysm, Familial Thoracic 7
Ascending aortic dissection, Descending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Vasculitis, Anemia ORPHA:375
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Fai... OMIM:300972
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Failure to thrive, Hypopigmentation of the fundus, Decreased nerve conduction veloc... OMIM:238970
Abetalipoproteinemia
Rod-cone dystrophy, Hypotriglyceridemia, Steatorrhea, Abnormality of retinal pigmentation, Decrea... ORPHA:14
Interstitial Lung And Liver Disease
Hepatomegaly, Thrombocytosis, Hepatic fibrosis, Failure to thrive, Anemia, Hyperammonemia, Cirrho... OMIM:615486
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis, Hypergonadotropic hypogonadism ORPHA:1014
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen... ORPHA:540
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Highly arched eyebrow, Thick hair, Type II diabetes mellitus ORPHA:401923
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Hepatic fibrosis, Cholestasis OMIM:609313
X-Linked Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98863
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... ORPHA:404
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98853
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Interface hepatitis, Elevated serum transaminases during infections... OMIM:611182
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Optic atrophy, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Impaired gluc... OMIM:261680
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Neonatal hyperbilirubinemia, Failure to thrive, Thyroid hypoplasia, Abnormal circulating ... ORPHA:90674
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Waddling gai... ORPHA:369840
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, D... ORPHA:403
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Cognitive impairment, Abnormal cerebral white matter morphology, Obesity, Microcep... OMIM:614947
Bardet-Biedl Syndrome 13
Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal bloo... OMIM:615990
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen con... ORPHA:79259
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Type II diabetes mellitus, Hypergonadotropic hypogonadism, O... ORPHA:3085
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Gait disturbance, Anemia, Progressive neurologic deterioration, ... ORPHA:1192
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Pancytopenia, Leukopenia, Failure to thrive, Anemia,... OMIM:603553
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Decreased circulating antibody level, Hype... ORPHA:470
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Senior-Loken Syndrome
Congenital hepatic fibrosis, Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Aapoaiv Amyloidosis
Cardiac amyloidosis, Hyperlipidemia, Elevated circulating creatinine concentration, Renal amyloid... ORPHA:439232
Neutral Lipid Storage Disease With Ichthyosis