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Gene: Hnf4a MGI:109128

Gene Summary

Name:

hepatic nuclear factor 4, alpha

Synonyms:

Nuclear receptor 2A1, MODY1, Hnf4, Tcf14, Tcf4, HNF4 alpha, HNF-4, Nr2a1

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IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
abnormal retina blood vessel morphology	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.21×10^-08
increased circulating HDL cholesterol level	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.79×10^-13
abnormal lens morphology	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.14×10^-07
persistence of hyaloid vascular system	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.20×10^-06
abnormal retina morphology	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.16×10^-06
increased circulating calcium level	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Late adult	5.80×10^-06
decreased body weight	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Middle aged adult	4.32×10^-05
cataract	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.59×10^-05
enlarged thyroid gland	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Late adult	0.00
increased circulating bilirubin level	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.71×10^-07
increased circulating cholesterol level	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.53×10^-12
increased total retina thickness	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.73×10^-05
abnormal retina vasculature morphology	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.17×10^-09
increased circulating cholesterol level	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Late adult	5.23×10^-07
improved glucose tolerance	Hnf4a^{tm1b(EUCOMM)Hmgu}	HET	Late adult	5.68×10^-05

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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.

Electrocardiogram (ECG)

Waveform Image

38 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Hnf4a 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.

Human diseases associated with Hnf4a (5 diseases)
Human diseases predicted to be associated with Hnf4a (1035 diseases)

The table below shows human diseases associated to Hnf4a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-onset diabetes of the young	OMIM:125850
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi...	ORPHA:552
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Pancreatic isl...	ORPHA:263455
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus	OMIM:616026

The table below shows human diseases predicted to be associated to Hnf4a by phenotypic similarity.

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
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
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero...	OMIM:619855
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-onset diabetes of the young	OMIM:125850
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Goiter, Increased circulating free T3, Increased circulating free T4 concentration, Impaired sens...	OMIM:188570
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma	OMIM:188550
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Thyroid Dyshormonogenesis 2A	Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,...	OMIM:274500
Hyperparathyroidism 1	Hypercalcemia, Primary hyperparathyroidism	OMIM:145000
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino...	OMIM:619868
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Increased circulating thyroglobulin concentration,...	OMIM:274600
Parathyroid Carcinoma	Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma	OMIM:608266
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Hyperbilirubinemia	OMIM:618660
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog...	OMIM:232700
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Hyperparathyroidism 4	Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism	OMIM:617343
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:275200
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Hypoparathyroidism, Familial Isolated, 2	Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca...	OMIM:618883
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Adamantinoma	Hypercalcemia	ORPHA:55881
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo...	OMIM:203330
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:606785
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Increased circulating free T4 c...	OMIM:613239
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ...	OMIM:301033
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Type II diabetes mellitus...	OMIM:274300
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Papillary thyroid carcinoma, Goiter	OMIM:616534
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Blue Diaper Syndrome	Increased proinsulin:insulin ratio, Hyperphosphatemia, Elevated circulating thyroid-stimulating h...	ORPHA:94086
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V...	OMIM:143200
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra...	OMIM:619256
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:218800
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Rotor Syndrome	Jaundice, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Intermittent jaundice	ORPHA:3111
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Malaria	Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Retinopathy	ORPHA:673
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir...	ORPHA:179
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma...	ORPHA:411527
Rhabdomyosarcoma, Embryonal, 2	Multinodular goiter, Ovarian thecoma, Thyroid nodule, Goiter	OMIM:180295
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Cataract	OMIM:165300
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri...	OMIM:612526
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera...	OMIM:603471
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter	ORPHA:319487
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Gilbert Syndrome	Unconjugated hyperbilirubinemia, Hepatic failure, Elevated circulating hepatic transaminase conce...	OMIM:143500
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen...	OMIM:614292
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Hyperthyroidism, Goiter	OMIM:188580
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia, Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Hashimoto thyroiditis, Hypo...	ORPHA:64744
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio...	OMIM:246700
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Splenomegaly, Intermittent jaundice	OMIM:179700
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino...	OMIM:145001
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c...	ORPHA:95716
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:237800
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypocholesterolemia, Hypersplenism, Splenomegaly	OMIM:610539
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce...	ORPHA:94090
Morm Syndrome	Cataract, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Reduced circulating cortisol-binding globulin ...	OMIM:611489
Bangstad Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter	OMIM:210740
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu...	ORPHA:231736
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Papillary thyroid carcinoma, Goiter	ORPHA:97290
Retinopathy Of Prematurity	Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme...	ORPHA:90050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid...	ORPHA:2239
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Hypercalcemia	ORPHA:2668
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Tractional retinal detachment, Shallow anterior cha...	OMIM:613310
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function	OMIM:601466
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration	ORPHA:254704
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri...	OMIM:610947
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat...	OMIM:618400
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus, Decreased HDL cholesterol concentration	OMIM:618463
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Hyperthyroidism, Nonautoimmune	Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f...	OMIM:609152
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalcemia	OMIM:239199
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C...	ORPHA:79303
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa...	ORPHA:247598
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Hyperthreoni...	OMIM:204000
Thymic Neuroendocrine Tumor	Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa...	ORPHA:97289
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr...	ORPHA:139507
Thyroid Dyshormonogenesis 1	Hypothyroidism, Goiter	OMIM:274400
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra...	OMIM:616834
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:616108
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio...	OMIM:275000
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin	ORPHA:2924
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Cholestasis, Benign Recurrent Intrahepatic, 1	Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis, Intrahepatic choles...	OMIM:243300
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Leber Congenital Amaurosis 2	Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy	OMIM:614284
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Increased total ...	ORPHA:890
Vitreoretinochoroidopathy	Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Leber Congenital Amaurosis 8	Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Familial Isolated Hyperparathyroidism	Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma, Hypercalce...	ORPHA:99879
Thyroid Lymphoma	Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter	ORPHA:97285
Hepatic Lipase Deficiency	Corneal arcus, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin...	OMIM:251270
Familial Hyperaldosteronism Type Ii	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:404
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:280356
Familial Hyperaldosteronism Type I	Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism	ORPHA:403
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Neovascular Glaucoma	Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino...	ORPHA:94058
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Parathyroid adenoma	OMIM:145980
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper...	ORPHA:140286
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d...	OMIM:616188
Liddle Syndrome	Hypokalemia	ORPHA:526
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta...	OMIM:616468
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism, Elevated circulating parathyroid hormo...	OMIM:603233
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase	ORPHA:681
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Increased total bilirubin	OMIM:174050
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating...	OMIM:146200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Pendred Syndrome	Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter	ORPHA:705
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ...	ORPHA:71
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Pa...	OMIM:612089
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Glutaric Aciduria Iii	Hyperthyroidism, Goiter	OMIM:231690
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Ascher Syndrome	Hypothyroidism, Goiter	ORPHA:1253
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid...	ORPHA:99819
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Glycogen Storage Disease Ixa1	Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Elevated circulating phytanic acid concentration, Increased phy...	OMIM:614307
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231632
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Cataract	OMIM:620312
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	ORPHA:766
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Lipemia retinalis, Hypercholesterolemia, Decreas...	OMIM:207750
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Goiter	OMIM:617577
Apparent Mineralocorticoid Excess	Hypokalemia, Abnormality of circulating cortisol level, Decreased circulating renin level	ORPHA:320
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly, Steatorrhea,...	OMIM:266510
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Thyrocerebroretinal Syndrome	Goiter	OMIM:274240
Exudative Vitreoretinopathy 4	Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d...	OMIM:601813
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypercalcemia, Cryptor...	OMIM:614732
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin...	OMIM:231100
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Gyrate Atrophy Of Choroid And Retina	Cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal atrophy, Subcapsular cata...	ORPHA:414
Maffucci Syndrome	Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla...	ORPHA:163634
Hijazi-Reis Syndrome	Hyperbilirubinemia, Iris coloboma, Astigmatism	OMIM:301094
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo...	OMIM:177650
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating...	OMIM:615980
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka...	ORPHA:556037
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Hypercholesterolemia, Familial, 3	Corneal arcus, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cortiso...	ORPHA:231625
Leg, Absence Deformity Of, With Congenital Cataract	Developmental cataract, Progressive cataract, Optic nerve dysplasia	OMIM:246000
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Increa...	ORPHA:90674
Eales Disease	Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis...	ORPHA:40923
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid...	ORPHA:424
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hepatic cysts, Hypokalemia, Hepatomegaly, Jaundice...	OMIM:613095
Aniridia 2	Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Familial Hyperaldosteronism Type Iii	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:251274
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Thyrocerebrorenal Syndrome	Euthyroid goiter	ORPHA:3327
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia	OMIM:605479
East Syndrome	Hypokalemia, Increased circulating renin level, Hyperaldosteronism, Hypomagnesemia	ORPHA:199343
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f...	ORPHA:158057
Anaplastic Thyroid Carcinoma	Nodular goiter, Anaplastic thyroid carcinoma, Goiter	ORPHA:142
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Cataract, Macular degeneration, Retinal degeneration, Rod-cone dystrophy	OMIM:204200
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Gracile Syndrome	Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul...	OMIM:603358
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin l...	ORPHA:231580
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal...	OMIM:212550
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Hepatomegaly, Elevate...	OMIM:606069
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:613280
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka...	ORPHA:556030
Hypercalcemia, Infantile, 1	Decreased circulating parathyroid hormone level, Hypercalcemia	OMIM:143880
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Decreased circulating cortisol level, Hyperbilirubinemia	OMIM:609734
Hypercholesterolemia, Familial, 2	Corneal arcus, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Morgagni-Stewart-Morel Syndrome	Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, Abnormalit...	ORPHA:77296
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Hypokale...	OMIM:619377
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili...	ORPHA:234
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, H...	OMIM:619048
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Persistent Hyperplastic Primary Vitreous	Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme...	ORPHA:91495
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula...	ORPHA:64743
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia, Primary hyperparathyroidism	OMIM:145981
Fanconi-Bickel Syndrome	Hypouricemia, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentra...	OMIM:227810
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena...	ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis...	OMIM:619386
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Shallow anterior chamber, Macular atrophy	OMIM:267760
Adrenocortical Carcinoma	Increased circulating cortisol level, Hyperaldosteronism, Hypokalemia, Elevated serum 11-deoxycor...	ORPHA:1501
Retinitis Pigmentosa 50	Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt...	OMIM:613194
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia	ORPHA:79085
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Hepatosplenomegaly	OMIM:611590
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy	OMIM:610156
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester...	OMIM:615812
Iron Overload, Susceptibility To	Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir...	OMIM:620121
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cataract, Microcornea, Retinopathy, Macular atrophy, Optic disc pallor	OMIM:616171
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea...	OMIM:225250
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Gyrate Atrophy Of Choroid And Retina	Macular thickening, Posterior subcapsular cataract, Foveoschisis, Hyperornithinemia, Chorioretina...	OMIM:258870
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate...	OMIM:601847
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti...	OMIM:617304
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo...	OMIM:617872
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:613090
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Hyperkalemic Periodic Paralysis	Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration	ORPHA:682
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi...	ORPHA:446
Galactokinase Deficiency	Cataract, Nuclear cataract, Hypercholesterolemia, Increased level of galactitol in plasma, Hyperg...	ORPHA:79237
Trichomegaly	Cataract	OMIM:190330
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism	OMIM:264350
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Decreased circulating T4 concentration, Congenital hypothyroidism, Elevated circulating thyroid-s...	ORPHA:226313
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia	OMIM:619073
2P21 Microdeletion Syndrome	Hypogonadism, Hypocalcemia, Hypoglycemia	ORPHA:163693
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level	OMIM:615474
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Nod...	ORPHA:1332
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Maturity-onset diabetes of the young	ORPHA:254531
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc...	OMIM:604367
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Cholesteryl Ester Storage Disease	Adrenal calcification, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Leber Congenital Amaurosis	Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract	ORPHA:65
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
Hypothyroidism, Congenital, Nongoitrous, 9	Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le...	OMIM:301035
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Retinitis Pigmentosa 46	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod...	OMIM:612572
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Hepatome...	OMIM:618892
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon...	OMIM:180105
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Hyperaldosteronism	ORPHA:369929
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic steatosis	ORPHA:26792
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi...	ORPHA:913
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	OMIM:614736
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Retinal dystrophy	ORPHA:713
Retinitis Pigmentosa 83	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous...	OMIM:618173
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:435651
Hyperlipoproteinemia, Type V	Increased circulating chylomicron concentration, Increased VLDL cholesterol concentration, Decrea...	OMIM:144650
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Abnormal circulating lipid concentration	OMIM:608709
Cowden Syndrome 5	Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid...	OMIM:615108
Norrie Disease	Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos...	OMIM:310600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Cystinosis	Hypokalemia, Hypophosphatemia, Portal hypertension	ORPHA:213
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo...	OMIM:617994
Mccune-Albright Syndrome	Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent...	ORPHA:562
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ...	ORPHA:97282
Fetal Cytomegalovirus Syndrome	Retinal hemorrhage, Optic atrophy, Conjugated hyperbilirubinemia, Chorioretinitis	ORPHA:294
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated c...	OMIM:617093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Retinal detachment, Elevated circulating creatine kinase concen...	OMIM:615181
Neuhauser Syndrome	Hypoplasia of the iris, Megalocornea, Iridodonesis, Retinal detachment, Hypercholesterolemia, Iri...	OMIM:249310
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Hyperbilirubinemia, Elevated circulating hepatic transa...	ORPHA:98870
Somatostatinoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97283
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:363400
Squalene Synthase Deficiency	Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating methylsuccinic...	OMIM:618156
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:79230
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, C...	OMIM:617049
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Non-Functioning Paraganglioma	Hypercalcemia, Paraganglioma, Paraganglioma of head and neck	ORPHA:94080
Cowden Syndrome 6	Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Thyroid...	OMIM:615109
Retinitis Pigmentosa 56	Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ...	OMIM:613581
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice	OMIM:235700
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Hypophosphatasia	Hypercalcemia	ORPHA:436
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly	OMIM:182900
Addison Disease	Thymoma, Type I diabetes mellitus, Androgen insufficiency, Hypoglycemia, Adrenal calcification, I...	ORPHA:85138
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat...	OMIM:619481
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ...	OMIM:615381
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:603553
Bartter Syndrome, Type 3	Hypokalemia, Hyperchloriduria, Hyperaldosteronism, Increased circulating renin level	OMIM:607364
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Elevated transferrin saturation, Increased circulating ferritin concentration	OMIM:205950
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi...	ORPHA:95715
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:612653
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Autosomal Recessive Stickler Syndrome	Astigmatism, Cataract, Retinal detachment, Vitreoretinopathy	ORPHA:250984
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Hepatomegaly	OMIM:608776
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel...	ORPHA:39044
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone...	OMIM:602772
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Lipemia retina...	OMIM:238600
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy...	ORPHA:412
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hyperaldosteronism, Hypomagnesemia	OMIM:612780
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hypocholesterolemia	OMIM:618810
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Increased circulating renin level, Hyponatremia, Hyperkalemia, Glucocortocoid-ins...	ORPHA:171876
Pediatric-Onset Graves Disease	Graves disease, Goiter, Puberty and gonadal disorders, Increased circulating free T3, Thyrotoxico...	ORPHA:525731
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Laron Syndrome	Abnormality of the endocrine system, Delayed puberty, Hypercholesterolemia, Hypoglycemia	ORPHA:633
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Hypercalcemia	OMIM:171420
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Hypercalcemia, Hyperphosphatemia, Calcinosis	OMIM:211900
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphate...	ORPHA:2611
Infantile Sialic Acid Storage Disease	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly	OMIM:269920
Temple Syndrome	Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Cryptorchidi...	OMIM:616222
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil...	OMIM:619685
Oculoskeletodental Syndrome	Hypothyroidism, Hypercalcemia, Hypocalcemia, Cryptorchidism	OMIM:618440
Wolcott-Rallison Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	ORPHA:1667
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Cowden Syndrome 7	Hashimoto thyroiditis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Goiter	OMIM:616858
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia	ORPHA:95717
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c...	OMIM:618805
Bardet-Biedl Syndrome 20	Retinal vascular tortuosity, Astigmatism, Papilledema, Hypercholesterolemia, Rod-cone dystrophy	OMIM:619471
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Primary hyperparathyroidism	OMIM:600740
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated circulating creatine kinase conce...	ORPHA:435660
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip...	OMIM:618195
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Cowden Syndrome 1	Thyroid adenoma, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyroidism, Hydroc...	OMIM:158350
Spastic Paraplegia 5A, Autosomal Recessive	Optic atrophy, Abnormal circulating cholesterol concentration, Cataract	OMIM:270800
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase co...	OMIM:232800
Acute Adrenal Insufficiency	Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primary adrenal insuffici...	ORPHA:95409
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre...	OMIM:600649
Familial Chylomicronemia Syndrome	Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea...	ORPHA:444490
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Cholecystitis, Reduced haptoglobin level, Splenomegaly, Jaundice, Hepatomegaly, U...	OMIM:266200
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Infantile Myofibromatosis	Hypercalcemia, Neoplasm of the pancreas	ORPHA:2591
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone level	OMIM:618618
Ppoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97278
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Hypophosphatemia, Calcinosis, Hypercalcemia, Prim...	OMIM:239200
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub...	ORPHA:2137
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Exocrin...	ORPHA:699
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	OMIM:619573
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Asteroid hyalosis, Retinal thinning	OMIM:132450
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Fibrous Dysplasia Of Bone	Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c...	ORPHA:249
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration	OMIM:601775
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina...	ORPHA:279914
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:616649
Congenital Generalized Lipodystrophy	Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased...	ORPHA:528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Elevated circulating creatine kinase concentration, Coloboma, Retinal detachment, Corne...	OMIM:613153
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Retinitis Pigmentosa 43	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon...	OMIM:613810
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg...	ORPHA:83461
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ...	ORPHA:263479
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Bardet-Biedl Syndrome 9	Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p...	OMIM:615986
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Hyperalaninemia...	OMIM:614582
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Elevated circulating thyroid-s...	OMIM:612462
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Splenom...	ORPHA:75563
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin...	ORPHA:91347
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice	OMIM:185000
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Peroxisome Biogenesis Disorder 9B	Elevated circulating phytanic acid concentration, Rod-cone dystrophy, Cataract	OMIM:614879
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:616689
Glucagonoma	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:97280
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level	ORPHA:90795
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Jaundice	OMIM:268150
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli...	ORPHA:2457
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Refsum Disease, Classic	Elevated circulating phytanic acid concentration, Cataract, Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Smith-Magenis Syndrome	Retinal detachment, Microcornea, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:819
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level	OMIM:202010
Stickler Syndrome Type 1	Abnormal vitreous humor morphology, Retinal detachment, Cataract	ORPHA:90653
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Elevated circulating aspartate aminotransferase co...	OMIM:212140
Grfoma	Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In...	ORPHA:97261
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ...	ORPHA:101330
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta...	ORPHA:53035
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hyperuricemia, Splenomegaly, Cirrhosis, Pancreatitis, Hypertriglyceridemia, He...	ORPHA:79083
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Reduced ...	OMIM:614887
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra...	ORPHA:99832
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Achondrogenesis Type 2	Lens subluxation, Abnormal vitreous humor morphology, Retinal detachment, Cataract	ORPHA:93296
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo...	ORPHA:2238
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Incre...	ORPHA:69665
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio...	OMIM:152950
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hypophosphatemia, Hypercalcemia	OMIM:156400
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil...	OMIM:613471
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating cortisol level, Increased circulating corticosterone level, De...	ORPHA:90793
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi...	OMIM:613983
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Peritonitis, Pancreatit...	ORPHA:90038
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Mercury Poisoning	Hypokalemia	ORPHA:330021
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Prune1-Related Neurological Syndrome	Optic atrophy, Cataract, Retinopathy, Elevated circulating creatine kinase concentration	ORPHA:544469
Glycogen Storage Disease Ixb	Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle g...	OMIM:261750
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ...	OMIM:608836
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:602522
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hyperammonemia...	ORPHA:42
Lissencephaly 8	Optic atrophy, Cataract, Elevated circulating creatine kinase concentration	OMIM:617255
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:94089
Nelson Syndrome	Hypokalemia, Increased circulating cortisol level, Secondary hypercortisolism	ORPHA:199244
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatomegaly	ORPHA:2348
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat...	OMIM:261680
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperbi...	OMIM:614886
Woolly Hair	Cataract, Abnormal pupil morphology, Abnormal retinal morphology	ORPHA:170
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Absent gallbladder, Bil...	OMIM:615710
Abetalipoproteinemia	Retinopathy, Abetalipoproteinemia, Retinal degeneration	OMIM:200100
Autosomal Dominant Progressive External Ophthalmoplegia	Goiter, Glucose intolerance, Elevated circulating creatine kinase concentration, Hypothyroidism, ...	ORPHA:254892
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Hypocalcemic...	ORPHA:36913
Nance-Horan Syndrome	Cataract, Microcornea, Retinal detachment	ORPHA:627
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia, Cryptorchidism	ORPHA:96184
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Infantile Refsum Disease	Elevated circulating phytanic acid concentration, Optic atrophy, Rod-cone dystrophy, Cataract	ORPHA:772
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased total bilirubin, Increased circulating fer...	ORPHA:3202
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Cataract 16, Multiple Types	Posterior polar cataract, Developmental cataract, Lenticonus, Retinal dystrophy	OMIM:613763
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Increased total bilirubin	ORPHA:90037
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Hypercalcemia, Extraadre...	ORPHA:276621
Monosomy 13Q34	Insulin resistance, Hypercalcemia	ORPHA:96168
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa...	OMIM:201475
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem...	OMIM:601678
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu...	OMIM:106210
Bartter Syndrome Type 4	Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulati...	ORPHA:89938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retinal detachment,...	OMIM:614643
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice	ORPHA:529799
Galactose Mutarotase Deficiency	Cataract, Hypergalactosemia	ORPHA:570422
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r...	OMIM:300578
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Hypercholesterolemia, Abnormal a...	ORPHA:2479
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Nodular goiter, Premature thelarche, Type I diabetes mellitus, Polycystic ovaries	ORPHA:371428
9Q31.1Q31.3 Microdeletion Syndrome	Type II diabetes mellitus, Hypercholesterolemia	ORPHA:401923
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Cataract, Rod-cone dystrophy, Subcapsular cataract	OMIM:612674
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Increased circulating cortisol level	ORPHA:786
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	ORPHA:562639
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hep...	ORPHA:79086
Hyperparathyroidism-Jaw Tumor Syndrome	Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal parathyroid m...	ORPHA:99880
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr...	ORPHA:90673
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p...	ORPHA:653
Carney Complex, Type 1	Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ...	OMIM:160980
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit...	ORPHA:364055
Vogt-Koyanagi-Harada Disease	Cataract, Retinal detachment	ORPHA:3437
Stickler Syndrome, Type Ii	Abnormal vitreous humor morphology, Retinal detachment, Cataract	OMIM:604841
Congenital Muscular Dystrophy, Fukuyama Type	Optic atrophy, Retinal dysplasia, Cataract	ORPHA:272
Juvenile Nephropathic Cystinosis	Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H...	ORPHA:411634
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Hypotonia-Cystinuria Syndrome	Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hypocalcemia, Hyper...	OMIM:606407
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hepatic ste...	ORPHA:348
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc...	OMIM:212065
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract	ORPHA:3173
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Panc...	ORPHA:521219
Stickler Syndrome, Type Iv	Cataract, Astigmatism, Chorioretinal degeneration, Rhegmatogenous retinal detachment, Degenerativ...	OMIM:614134
Parathyroid Carcinoma	Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,...	ORPHA:143
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Glycogen Storage Disease Xii	Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, Elevated circulatin...	OMIM:611881
Lathosterolosis	Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Eleva...	OMIM:607330
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:266120
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Decreased circulating carnitine concentration, Hepatic steatosis, Elevated circulat...	OMIM:201450
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin...	ORPHA:228308
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Joubert Syndrome 9	Cataract, Astigmatism, Retinal dystrophy	OMIM:612285
Relapsing Fever	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ...	ORPHA:91547
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Increased intramyocellular lipid droplets, Transient hypoph...	ORPHA:79102
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:208085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Retinal degeneration, Coloboma, Elevated circulating creatine kinase concentration	OMIM:615249
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Maternal Uniparental Disomy Of Chromosome 4	Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ...	ORPHA:96180
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Fanconi-Bickel Syndrome	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ...	ORPHA:2088
Timothy Syndrome	Hypothyroidism, Hypocalcemia, Hypoglycemia	OMIM:601005
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col...	OMIM:610256
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Intellectual Developmental Disorder, Autosomal Dominant 70	Cataract, Hyponatremia, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia	OMIM:620157
Srd5A3-Cdg	Optic atrophy, Cataract, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy	ORPHA:324737
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper...	OMIM:203800
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract, Macular degeneration	OMIM:619780
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Splenomegaly, Hepatomegaly, Jaundice, Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Elevated hepatic iron concentration	OMIM:206100
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Genetic Recurrent Myoglobinuria	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hypocalcemia, Abnorma...	ORPHA:99845
Muscle-Eye-Brain Disease	Optic atrophy, Cataract, Elevated circulating creatine kinase concentration	ORPHA:588
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Hereditary Pheochromocytoma-Paraganglioma	Adrenal pheochromocytoma, Paraganglioma, Paraganglioma of head and neck, Elevated circulating cal...	ORPHA:29072
Rh-Null, Amorph Type	Hyperbilirubinemia	OMIM:617970
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Bone spicu...	OMIM:609033
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy	ORPHA:139471
Acquired Partial Lipodystrophy	Hepatic steatosis	ORPHA:79087
Pheochromocytoma	Pheochromocytoma, Hypercalcemia	OMIM:171300
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Cardiomyopathy, Dilated, 1Ii	Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Decreased liver function, Elevated circulating biliverdin concentration	OMIM:614156
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hepatic steatosis, H...	OMIM:229600
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Hypothyroidism, Hypocalcemia	ORPHA:1563
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con...	ORPHA:98908
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Seckel Syndrome 10	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul...	OMIM:617253
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated ...	OMIM:277900
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating hepatic t...	ORPHA:542323
Sitosterolemia 1	Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste...	OMIM:210250
Familial Multinodular Goiter	Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Ovarian neoplasm	ORPHA:276399
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	OMIM:151660
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cataract, Attenuation of retinal blood vessels, Retinal degeneration, Macular atrophy, Geographic...	OMIM:619260
Werner Syndrome	Elevated hemoglobin A1c, Retinal degeneration, Cataract, Hypertriglyceridemia	OMIM:277700
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia	ORPHA:31150
Coats Disease	Leukocoria, Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic atrophy, Pigmentary retinopathy, Cataract, Elevated circulating phytanic acid concentration...	OMIM:614866
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Hyperbilirubinemia, Hypocalcemia, Optic disc pallor	OMIM:259720
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Prolonged neonatal...	ORPHA:288
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Splenomegaly, Jaundice, Decreased glucose-6-phosphate dehydrogenase level in blood, Prolonged neo...	OMIM:300908
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Macular degeneration, Tortuosity of conjunctival vessels	ORPHA:284289
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia...	ORPHA:3008
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem...	OMIM:241200
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi...	ORPHA:552
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Walker-Warburg Syndrome	Optic atrophy, Cataract, Microcornea, Abnormal optic nerve morphology, Abnormal circulating creat...	ORPHA:899
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Elevated circulating creatine...	ORPHA:370959
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Cataract, Buphthalmos, Retinal dystrophy, Elevated circulating creatine kinase concentration	ORPHA:370997
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Cryptorch...	OMIM:241410
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Microphthalmia, Syndromic 5	Cataract, Microcornea, Coloboma, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hyperglycemia, Hypothyroidism, Hypercholesterolemia	ORPHA:90065
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly	OMIM:224120
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Hereditary Spherocytosis	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:822
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Jaundice, Hyperkalemia	ORPHA:90790
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:615438
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Hepatomegaly, Un...	OMIM:613673
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hypomagnesemia, Exocrine pancreatic insufficiency,...	OMIM:219800
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hyperbilirubinemia, ...	ORPHA:39812
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract, Choroideremia	OMIM:116600
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ...	OMIM:618183
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins...	OMIM:557000
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Fumarase Deficiency	Optic atrophy, Conjunctival icterus, Hyperbilirubinemia	OMIM:606812
Alagille Syndrome 1	Cataract, Pigmentary retinopathy, Microcornea, Band keratopathy, Chorioretinal atrophy, Axenfeld ...	OMIM:118450
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypercalcemia, Precocious puberty, Hypertriglyceridemia	ORPHA:369837
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hepatic steatosis	ORPHA:254346
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Kenny-Caffey Syndrome, Type 1	Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia	OMIM:244460
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Elevate...	OMIM:613327
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Primary hyperaldosteronism, Neoplasm ...	ORPHA:358
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp...	ORPHA:90363
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hyperammonemia, Eleva...	OMIM:212138
Beta-Thalassemia	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis	ORPHA:848
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Rh Deficiency Syndrome	Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level	ORPHA:71275
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Polycystic ovaries, Elevated circulating creatine kinase concentration, K...	ORPHA:79240
Familial Adenomatous Polyposis	Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of...	ORPHA:733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Elevated circ...	OMIM:613154
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He...	ORPHA:79322
Cataract 47	Cataract, Microcornea	OMIM:612018
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Oculocerebrorenal Syndrome Of Lowe	Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia	ORPHA:534
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Pigmentary retinopathy, Elevated circulating creatine kinase concentration	ORPHA:79095
Rabson-Mendenhall Syndrome	Hypokalemia, Increased C-peptide level	ORPHA:769
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Hepatic steatosis, Para...	ORPHA:189427
Leprechaunism	Hypokalemia, Hepatomegaly, Hyperaldosteronism, Increased circulating renin level	ORPHA:508
Phacoanaphylactic Uveitis	Anterior chamber flare grade 1+, Macular edema, Hypopyon, Posterior synechiae of the anterior cha...	ORPHA:209959
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Papillorenal Syndrome	Cataract, Macular degeneration, Lens luxation, Optic disc coloboma, Retinal coloboma, Elevated ci...	OMIM:120330
Alg12-Cdg	Hyponatremia, Hypocholesterolemia, Elevated circulating hepatic transaminase concentration, Hypoa...	ORPHA:79324
Otodental Syndrome	Cataract, Microcornea, Retinal coloboma, Lens coloboma, Iris coloboma	ORPHA:2791
Multiple Endocrine Neoplasia, Type Iib	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Nod...	OMIM:162300
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating creatine kinase concentration	ORPHA:52430
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Retinal hemorrhage, Vitreous hemorrhage, Hyperbilirubinemia	ORPHA:464321
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes...	OMIM:248370
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Long-Olsen-Distelmaier Syndrome	Cataract, Microspherophakia, Hyperammonemia, Optic nerve hypoplasia	OMIM:620609
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,...	OMIM:231680
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele...	OMIM:614921
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hepatic steatosis, Pancreatitis, Hyperhomocystinemia	OMIM:236200
Antiphospholipid Syndrome, Familial	Keratitis, Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Iritis, Vitr...	OMIM:107320
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia, Hypocalcemic seiz...	OMIM:264700
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Splenomegaly, Elevated hepatic iron concentration, ...	OMIM:615234
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia	ORPHA:361
Mitochondrial Neurogastrointestinal Encephalomyopathy	Macrovesicular hepatic steatosis, Cirrhosis, Hyperalaninemia, Elevated circulating hepatic transa...	ORPHA:298
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Sympathetic Ophthalmia	Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor...	ORPHA:79098
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Conjugated hyperbilirubinemia, Zonular cataract	ORPHA:168577
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Branchiootorenal Syndrome 1	Euthyroid goiter	OMIM:113650
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Elevated circulating cr...	ORPHA:99826
Hardikar Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:301068
Cowden Syndrome	Follicular thyroid carcinoma, Goiter, Neoplasm of the thyroid gland, Abnormality of the thyroid g...	ORPHA:201
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:300536
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Congenital Disorder Of Glycosylation, Type Iiaa	Hypercholesterolemia, Hyperammonemia, Hypoglycemia	OMIM:620454
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatic steatosis, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decreased HDL cholesterol co...	ORPHA:280365
Scorpion Envenomation	Elevated circulating aspartate aminotransferase concentration, Hypokalemia, Increased circulating...	ORPHA:466677
Aniridia 3	Cataract, Aniridia	OMIM:617142
Brain-Lung-Thyroid Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm...	ORPHA:209905
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Hypophosphatemia, Hypocalcemia	ORPHA:93160
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter	OMIM:618373
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Elevated circulating creatinine concentration, Abnormal retinal vascular morpholog...	ORPHA:247691
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia, Cryptorchidism, Congenital hypoparathyroidism, Hypoparathyroidism	ORPHA:2323
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Hypocalcemia, Delayed puberty, Steatorrhea, Thyroiditis	OMIM:212750
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Acute hepatic steatosis	OMIM:210200
Prader-Willi Syndrome	Precocious puberty, Decreased HDL cholesterol concentration, Decreased response to growth hormone...	OMIM:176270
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hyperlipidemia, Hepatic steatosis, Hyperuricemia, Increased hepatic glycogen content...	ORPHA:79259
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Hyperammonemia, Hypocalcem...	ORPHA:26793
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Decreased testicular size, Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Diabetes mellitus	ORPHA:2237
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Retinal dystrophy, Elevated circulating creatine kinase concentration	OMIM:616538
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Type I diabetes mellitus, Hypomagnesemia, Hypocalcemia, Decreased circulating pr...	ORPHA:37042
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Retinal degeneration	OMIM:208500
Beta-Thalassemia Intermedia	Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, Splenomeg...	ORPHA:231222
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:79444
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Congenital Tufting Enteropathy	Cataract, Optic disc coloboma, Punctate keratitis, Steatorrhea, Corneal erosion	ORPHA:92050
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:615595
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Distal Renal Tubular Acidosis	Hypokalemia	ORPHA:18
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Cataract, Peters anomaly, Megalocornea, Elevated circulating creatine kinase conce...	OMIM:236670
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail...	OMIM:256810
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypogonadism, Hypocalcemic tet...	OMIM:103580
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Aromatase Deficiency	Hyperlipidemia, Hepatic steatosis	ORPHA:91
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hypomagnesemia, Hypoc...	ORPHA:94093
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:613658
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:618329
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Elevated circu...	ORPHA:232
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepat...	OMIM:619487
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Gaisböck Syndrome	Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Diabetes mellitus, I...	ORPHA:90041
Lipodystrophy, Familial Partial, Type 7	Cataract, Pigmentary retinopathy, Hypercholesterolemia, Developmental cataract, Hypertriglyceridemia	OMIM:606721
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Chronic hepatic ...	ORPHA:465508
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:608594
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Microvesicular hepatic steatosis	OMIM:616672
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Knobloch Syndrome	Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho...	ORPHA:1571
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ...	ORPHA:470
Birk-Landau-Perez Syndrome	Increased circulating creatine kinase MB isoform, Hyperkalemia	OMIM:617595
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Hypoketotic hypoglycemia, Hypocalcemia	ORPHA:746
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Hypocalcemia, Cryptorchidism	OMIM:607143
Amyloidosis, Finnish Type	Cataract, Optic neuropathy, Lattice corneal dystrophy	OMIM:105120
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:269700
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ...	OMIM:614924
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:610198
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Heterochromia iridis, Retinal detachment, Limbal dermoid	ORPHA:2969
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Hypocalcemia, Cryptorchidism, Thyroid lymphangiectasia, Hypoproteinemia	OMIM:235255
Thyroid Ectopia	Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the thyroid gland,...	ORPHA:95712
Double Outlet Right Ventricle	Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus	ORPHA:3426
Cranioectodermal Dysplasia 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly...	OMIM:613610
Hypocalcemic Vitamin D-Dependent Rickets	Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia, Hypocalcemic seiz...	ORPHA:289157
Mirage Syndrome	Hyponatremia, Hyperkalemia, Hypoplastic spleen	OMIM:617053
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia	ORPHA:163979
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Dubowitz Syndrome	Hypocholesterolemia	OMIM:223370
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Cataract, Chorioretinal coloboma, Hyperbilirubinemia, Juvenile cataract, Coloboma, Iris coloboma	OMIM:619475
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Norrie Disease	Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor...	ORPHA:649
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatomegaly, Unco...	OMIM:618278
Proximal Renal Tubular Acidosis	Hypokalemia, Bicarbonaturia	ORPHA:47159
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia	ORPHA:97362
Pallister-Hall Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s...	OMIM:146510
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm...	ORPHA:79443
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome...	OMIM:261515
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Increased circulating ferritin concentratio...	OMIM:619534
Aceruloplasminemia	Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferritin conc...	OMIM:604290
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia	OMIM:300952
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepatomegaly, Pancreatic ...	OMIM:616263
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep...	OMIM:620376
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve...	ORPHA:289548
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Cholestatic liver disease, Hypocholesterolemia, Hepatic steatosis, Elevated circ...	OMIM:270400
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Multinodular goiter	OMIM:620189
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot...	ORPHA:79078
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca...	ORPHA:637
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Atelis Syndrome 2	Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloid vascular system	OMIM:620185
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Pigmentary retinopathy, Cataract	OMIM:610651
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Cryptorchidism, Thyroid agenesis, Hypothyroidism, Thyroid dysgenesis, Thyroid hypoplasia, Ectopic...	ORPHA:3047
Williams Syndrome	Precocious puberty, Cholelithiasis, Abnormal circulating lipid concentration, Type II diabetes me...	ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Cataract, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Elevated c...	OMIM:253280
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypoglycemia, Hypopituitarism, Decreased circulating T4 concentratio...	ORPHA:226307
Stromme Syndrome	Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Sclerocornea, Iris coloboma, ...	OMIM:243605
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Pancreatic isl...	ORPHA:263455
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Thyroid Hypoplasia	Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Developmental cataract	ORPHA:163956
Sarcoidosis	Enlarged lacrimal glands, Parotitis, Enlargement of parotid gland, Abnormality of the adrenal gla...	ORPHA:797
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Hyperammonemia, Hyperuricemia, Lipid acc...	ORPHA:20
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic fibrosis, ...	OMIM:222470
Ogden Syndrome	Jaundice, Macrovesicular hepatic steatosis, Hyperbilirubinemia, Microvesicular hepatic steatosis	OMIM:300855
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Adrenomyodystrophy	Hepatic steatosis	ORPHA:977
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly	OMIM:617303
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevate...	OMIM:615356
Neurooculorenal Syndrome	Decreased circulating cortisol level, Conjugated hyperbilirubinemia	OMIM:620305
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ...	OMIM:101000
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Hypoproteinemia, Hypocalcemia, Cryptorchidism	ORPHA:1655
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Steinert Myotonic Dystrophy	Insulin resistance, Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimu...	ORPHA:273
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ...	OMIM:611126
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia, Iris coloboma, Optic disc coloboma	OMIM:620186
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Corneal scarring, Elevated circulating creatine kinase...	OMIM:309000
Dominant Beta-Thalassemia	Hepatic fibrosis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice, Cirrhosis, Chronic h...	ORPHA:231226
Yellow Fever	Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating aspar...	ORPHA:99829
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Lmna-Related Cardiocutaneous Progeria Syndrome	Pulmonary carcinoid tumor, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Williams-Beuren Syndrome	Early onset of sexual maturation, Glucose intolerance, Hypothyroidism, Hypercalcemia, Diabetes me...	OMIM:194050
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
3-Methylglutaconic Aciduria Type 7	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:445038
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	OMIM:124000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Increased intramyocel...	ORPHA:17
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Neoplasm of the pancreas	ORPHA:2959
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Congenital Erythropoietic Porphyria	Abnormal circulating porphyrin concentration, Reduced haptoglobin level, Keratoconjunctivitis, Un...	ORPHA:79277
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Abnormal spleen morphology, Hepatomegaly	OMIM:619488
Velocardiofacial Syndrome	Hypoparathyroidism, Hypocalcemia, Cryptorchidism	OMIM:192430
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Rod-cone dystrophy	OMIM:300896
Beta-Thalassemia Major	Hepatic fibrosis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice, Cirrhosis, Hepatomeg...	ORPHA:231214
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Posterior subcapsular cataract, Cataract, Cerulean cataract, Anterior cortical cat...	ORPHA:67036
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Diabetes mellitus	OMIM:616026
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Decreased liver function, Hypocalcemia, Elevated circulating ...	ORPHA:466650
3-Methylglutaconic Aciduria, Type Viib	Hepatic steatosis	OMIM:616271
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Hypertriglyceridemia, Hepatomegaly, Elev...	OMIM:619127
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Reduced haptoglobin level, Jaundice, Increased blood ur...	ORPHA:447
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran...	ORPHA:404454
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Elevated circ...	OMIM:248250
Sotos Syndrome	Cryptorchidism, Hypothyroidism, Neonatal hypoglycemia, Hypercalcemia, Hydrocele testis	ORPHA:821
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Diabetes mellitus, Hypocalcemia	ORPHA:544482
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis	ORPHA:436271
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Choroidal neovascularization, Macular edema, Posterior synechiae of the anter...	ORPHA:91500
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remnants of the hyal...	OMIM:619539
Aicardi-Goutieres Syndrome 7	Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatic steatosis, Hepatom...	OMIM:615846
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Elevated circulat...	ORPHA:340
Bloom Syndrome	Elevated hemoglobin A1c, Hepatic steatosis	OMIM:210900
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia, Cryptorchidism	OMIM:300712
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular size, Abnormal circulating follicle-...	ORPHA:93325
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Prolonged neonatal jaundice, Hyperbilirubinemia	OMIM:210710
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia	ORPHA:90794
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased intramyocellular lipid droplets, Decreased liver function, Increased hepa...	OMIM:220110
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Aplasia of the thymus, Hypothyroidism, Thyroiditis	ORPHA:83471
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Microphthalmia, Syndromic 2	Microcornea, Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract,...	OMIM:300166
Phace Association	Congenital hypothyroidism, Lingual thyroid	OMIM:606519
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Exocrine pancreatic insufficiency, E...	OMIM:243800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Cirrhosis, Elevated hepatic iron concentration, Microvesicular hepatic steatosis	OMIM:300868
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Bardet-Biedl Syndrome	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased HDL choleste...	ORPHA:110
Vascular Ehlers-Danlos Syndrome	Hypokalemia	ORPHA:286
Syndromic Diarrhea	Hepatic fibrosis, Abnormality of the liver, Splenomegaly, Hepatoblastoma, Cirrhosis, Hepatomegaly...	ORPHA:84064
22Q11.2 Deletion Syndrome	Cholelithiasis, Hypocalcemia, Cryptorchidism, Hypoplasia of the thymus, Hypothyroidism, Hyperthyr...	ORPHA:567
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Thyroid hypoplasia, Adrenal hypoplasia	OMIM:308050
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hepatic steatosis	OMIM:619321
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis	OMIM:243910
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Elevated...	OMIM:619525
Atypical Werner Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:79474
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Congenital hypothyroidism, Thyroid hypoplasia	ORPHA:521445
Osteopetrosis With Renal Tubular Acidosis	Secondary hyperparathyroidism, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Hypocalcemia, Ovarian cyst, Parathyroid agenesis, Hypopla...	OMIM:188400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s...	OMIM:201750
Hennekam Syndrome	Hypocalcemia	ORPHA:2136
Holoprosencephaly 2	Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Phace Syndrome	Hypothyroidism, Ectopic thyroid	ORPHA:42775
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Hypocalcemia	ORPHA:667
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Hypomagnesemia, Decreased response to growth hormone stimulation test, Hyp...	OMIM:619503
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Stüve-Wiedemann Syndrome	Hypothyroidism, Ectopic thyroid	ORPHA:3206
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormality of the hypothalamus-pituitary axis, Adrenal hypoplasia, Thyroid hypoplasia, Cryptorch...	ORPHA:2166
Wiedemann-Rautenstrauch Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:3455
Charge Syndrome	Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st...	OMIM:214800
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:881
Treacher-Collins Syndrome	Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Cryptorchidism	ORPHA:861
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Annular pancreas, Hepatic steatosis	ORPHA:1606
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperammonemia, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets	OMIM:220111
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Pallister-Hall Syndrome	Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Dec...	ORPHA:672
Alström Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hnf4a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hnf4a.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Genome-wide association study suggests that variation at the RCOR1 locus is associated with tinnitus in UK Biobank.	Scientific reports (March 2021)	Hnf4a^{tm1b(EUCOMM)Hmgu}	PMC7979698

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hnf4a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Hnf4a^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Hnf4a^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Hnf4a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Hnf4a^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Hnf4a MGI:109128

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electrocardiogram (ECG)

X-ray

X-ray

Human diseases caused by Hnf4a mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data