Gene Summary

Name:
hepatic nuclear factor 4, alpha
Synonyms:
Nuclear receptor 2A1,  MODY1,  Hnf4,  Tcf14,  Tcf4,  HNF4 alpha,  HNF-4,  Nr2a1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating cholesterol level Hnf4atm1b(EUCOMM)Hmgu HET Early adult 7.53×10-12
abnormal retina vasculature morphology Hnf4atm1b(EUCOMM)Hmgu HET Early adult 7.70×10-09
increased total retina thickness Hnf4atm1b(EUCOMM)Hmgu HET   Early adult 6.73×10-05
decreased body weight Hnf4atm1b(EUCOMM)Hmgu HET Middle aged adult 4.32×10-05
enlarged thyroid gland Hnf4atm1b(EUCOMM)Hmgu HET Late adult 0.00
increased circulating HDL cholesterol level Hnf4atm1b(EUCOMM)Hmgu HET Early adult 7.34×10-13
abnormal retina blood vessel morphology Hnf4atm1b(EUCOMM)Hmgu HET Early adult 5.16×10-08
abnormal lens morphology Hnf4atm1b(EUCOMM)Hmgu HET   Early adult 3.09×10-07
increased circulating bilirubin level Hnf4atm1b(EUCOMM)Hmgu HET Early adult 8.71×10-07
abnormal retina morphology Hnf4atm1b(EUCOMM)Hmgu HET Early adult 1.16×10-06
cataract Hnf4atm1b(EUCOMM)Hmgu HET   Early adult 5.12×10-05
persistence of hyaloid vascular system Hnf4atm1b(EUCOMM)Hmgu HET Early adult 1.57×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

38 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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.

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

Disease Similarity of
phenotypes
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
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Transient neonatal diabet... ORPHA:552
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Diabetes mellitus OMIM:616026
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Pancreatic islet-cell hyperplasia, Hepatomegaly, Increased hepatic glyc... ORPHA:263455

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Thyroid Cancer, Nonmedullary, 1
Goiter, Non-medullary thyroid carcinoma, Papillary thyroid carcinoma OMIM:188550
Thyroid Cancer, Nonmedullary, 2
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Follicular thyroid carcinoma OMIM:188470
Thyroid Cancer, Nonmedullary, 5
Non-medullary thyroid carcinoma OMIM:616535
Thyroid Carcinoma, Familial Medullary
Medullary thyroid carcinoma OMIM:155240
Thyroid Cancer, Nonmedullary, 3
Non-medullary thyroid carcinoma OMIM:606240
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Maturity-onset diabetes of the young OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus 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
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus 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
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio OMIM:274700
Thyroid Dyshormonogenesis 2A
Goiter, Thyroid defect in oxidation and organification of iodide, Hypothyroidism OMIM:274500
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Thyroid Dyshormonogenesis 5
Goiter, Hypothyroidism OMIM:274900
Thyroid Dyshormonogenesis 4
Goiter, Hypothyroidism OMIM:274800
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T3 OMIM:188570
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Blepharochalasis And Double Lip
Goiter OMIM:109900
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Goiter, Impaired sensitivity to thyroid hormone OMIM:274300
Rhabdomyosarcoma, Embryonal, 2
Goiter, Thyroid nodule, Multinodular goiter, Ovarian thecoma OMIM:180295
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Elevated hep... OMIM:214900
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia OMIM:618660
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia ORPHA:79235
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Hypothyroidism, Congenital, Nongoitrous, 5
Ectopic thyroid, Hypothyroidism, Thyroid hypoplasia, Congenital hypothyroidism OMIM:225250
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Elevated ... OMIM:232700
Dubin-Johnson Syndrome
Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice OMIM:237500
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Wagner Vitreoretinopathy
Vitreoretinopathy, Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Cataract, Per... OMIM:143200
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Prolonged neonatal jaundice, Biliary tract abnormality, Neonatal hyperb... ORPHA:79234
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:615703
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Follicular thyroid carcinoma ORPHA:319487
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia, Jaundice OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Hyperbilirubinemia, Elevate... OMIM:210500
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Rotor Syndrome
Intermittent jaundice, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Jaundice ORPHA:3111
Hyperthyroidism, Nonautoimmune
Goiter, Thyroid hyperplasia, Hyperthyroidism OMIM:609152
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Jaundice OMIM:129850
Malaria
Retinopathy, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatome... OMIM:612526
Hypothyroidism, Congenital, Nongoitrous, 9
Inappropriately normal thyroid-stimulating hormone level, Decreased circulating free T4 level, Th... OMIM:301035
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Dyshormonogenesis 1
Goiter, Hypothyroidism OMIM:274400
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:97290
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Increased serum bile aci... OMIM:619662
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Insulinomatosis And Diabetes Mellitus
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinem... OMIM:235555
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Myxedema
Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly OMIM:610539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Hyperbilirubinemia,... OMIM:614300
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Liddle Syndrome 3
Hypokalemia OMIM:618126
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Activating thyroid-stimulating hormone recep... ORPHA:99819
Thyroid Lymphoma
Goiter, Hypothyroidism, Hyperthyroidism, Hashimoto thyroiditis ORPHA:97285
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Cataract ORPHA:254704
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism OMIM:613239
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Conjugated hyperbilirubinemia, Abnormal serum bi... ORPHA:79303
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Pendred Syndrome
Goiter, Thyroid carcinoma, Hypothyroidism, Hyperparathyroidism ORPHA:705
Galactosemia Iv
Hypergalactosemia, Cataract OMIM:618881
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin ORPHA:2924
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Reduced radioactive iodine uptake, Congenital hypothyroidism... ORPHA:95716
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Aniridia 3
Cataract OMIM:617142
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration, Hyperga... ORPHA:247598
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Increased circulating 18-hydroxyco... OMIM:610600
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Activating thyroid-stimulating hormone recep... ORPHA:424
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Igg4-Related Thyroid Disease
Hypothyroidism, Thyrotoxicosis with diffuse goiter, Euthyroid goiter, Hashimoto thyroiditis, Grav... ORPHA:64744
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Thyroid dysgenesis ORPHA:226292
Ascher Syndrome
Goiter, Hypothyroidism ORPHA:1253
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased to... OMIM:618528
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Splenome... ORPHA:567983
Exudative Vitreoretinopathy 5
Retinal exudate, Shallow anterior chamber, Exudative vitreoretinopathy, Tractional retinal detach... OMIM:613310
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:243300
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism OMIM:188580
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Hyperthreoninemia, Keratocon... OMIM:204000
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia ORPHA:280356
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Ciliary Dyskinesia, Primary, 37
Goiter, Hypothyroidism OMIM:617577
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Hypertriglyceridemia OMIM:615238
Hepatic Veno-Occlusive Disease
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Increased total bilirubin ORPHA:890
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia ORPHA:404
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Rod-cone ... OMIM:611040
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Increased total bilirubin OMIM:174050
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Galactosemia Ii
Hypergalactosemia, Cataract OMIM:230200
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Familial Hyperaldosteronism Type I
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
Graves Disease, Susceptibility To, 1
Goiter, Graves disease OMIM:275000
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypokalemia, Decreased circulating renin level OMIM:613677
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Liddle Syndrome
Hypokalemia ORPHA:526
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Hepatic Lipase Deficiency
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Maffucci Syndrome
Neoplasm of the adrenal cortex, Parathyroid adenoma, Ovarian neoplasm, Pituitary adenoma, Goiter,... ORPHA:163634
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatosplenomegaly, Hepatic failure,... ORPHA:79302
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Hypoch... ORPHA:71
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:278000
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Decreased circulating renin l... ORPHA:231632
Neovascular Glaucoma
Iris neovascularization, Abnormal anterior chamber morphology, Retinal vascular proliferation, Re... ORPHA:94058
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Prol... ORPHA:766
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia ORPHA:79085
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hepatic failure, Hepatosplenomegaly, Elevated circu... ORPHA:158057
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Abnormal circulating lipid concentration, Hep... OMIM:615980
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Hypokalemia, Decreased circulating renin level ORPHA:320
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556037
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Cholestasis, Hepatocellular necros... OMIM:231100
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepat... OMIM:251880
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract, Elevated levels of phytanic acid OMIM:614879
Eales Disease
Subhyaloid hemorrhage, Vitritis, Iris neovascularization, Retinal vasculitis, Retinal thinning, R... ORPHA:40923
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma OMIM:157151
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia ORPHA:251274
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Medullary Thyroid Carcinoma
Elevated calcitonin, Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, ... ORPHA:1332
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... OMIM:616188
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone dystrophy, Retinal detachment, Cone/cone-rod dystrophy OMIM:304030
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Decreased circulating T4 level, Elevated circulat... ORPHA:226316
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Decreased circulating renin l... ORPHA:231625
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Dubin-Johnson Syndrome
Abnormality of the liver, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract ab... ORPHA:234
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Anaplastic Thyroid Carcinoma
Goiter, Anaplastic thyroid carcinoma, Nodular goiter ORPHA:142
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis ORPHA:324416
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Intrahepatic cholestasis OMIM:605479
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Hyperornithin... ORPHA:414
East Syndrome
Hyperaldosteronism, Hypokalemia, Hypomagnesemia, Increased circulating renin level ORPHA:199343
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity,... OMIM:613280
Hemochromatosis Type 4
Cirrhosis, Increased circulating ferritin concentration, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal circulating corticosteron... ORPHA:556030
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Decreased circulating renin l... ORPHA:231580
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia OMIM:603776
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Hypokalemia, Hyperamylasemia OMIM:604278
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Splenomegaly, Hepato... OMIM:267700
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Pancreatitis ORPHA:435651
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypokalemia, Hypomagnesemia OMIM:618314
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Decreased circulating ceruloplasmin co... OMIM:616828
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hypokalemia OMIM:304900
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Hypertrigl... OMIM:619013
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of the e... ORPHA:83461
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619048
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Jaund... ORPHA:64743
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Ceroid Lipofuscinosis, Neuronal, 3
Rod-cone dystrophy, Cataract, Macular degeneration, Optic atrophy OMIM:204200
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Choriocapillaris atrophy OMIM:613835
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated hepatic transaminase, Increased total bilirubin OMIM:616299
Retinitis Pigmentosa 13
Hypopigmentation of the fundus, Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hypokalemia, Increased serum bile acid concentration, Cholestas... OMIM:619377
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Maternally-Inherited Diabetes And Deafness
Retinopathy, Abnormal circulating lipid concentration, Cataract, Macular dystrophy, Abnormal chor... ORPHA:225
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619386
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema, Posterior subcapsular cataract OMIM:617304
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Intermittent... OMIM:601847
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly OMIM:611590
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia OMIM:602722
Hypercholesterolemia, Familial, 2
Xanthelasma, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Cowden Syndrome 7
Hashimoto thyroiditis, Goiter, Papillary thyroid carcinoma, Ductal carcinoma in situ OMIM:616858
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Congenital hepatic fib... ORPHA:446
Adrenocortical Carcinoma
Hypokalemia, Elevated serum 11-deoxycortisol, Paradoxical increased cortisol secretion on dexamet... ORPHA:1501
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyperaldosteronism, Hyponatremia, Increased circulating renin level OMIM:177735
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Retinitis Pigmentosa 32
Retinal degeneration, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pa... OMIM:609913
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Decreased LDL cholesterol concentration OMIM:615558
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Rod-cone dystrophy,... OMIM:312600
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Harderoporphyria
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Retinitis Pigmentosa 50
Retinal flecks, Retinal detachment, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal... OMIM:613194
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyperaldosteronism, Hyponatremia OMIM:264350
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc... OMIM:604367
Retinitis Pigmentosa 70
Rod-cone dystrophy, Optic disc pallor, Retinal degeneration OMIM:615922
Trichomegaly
Cataract OMIM:190330
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Hypokalemia ORPHA:369929
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Hypocholesterolemia, Increased circulatin... OMIM:618156
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Hyponatremia ORPHA:682
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Periporta... OMIM:619484
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Cowden Syndrome 5
Hypothyroidism, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis, Thyroid ade... OMIM:615108
Lissencephaly 8
Elevated circulating creatine kinase concentration, Cataract, Optic atrophy OMIM:617255
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Elevated circulating creatine kinase concentration, Cataract OMIM:609115
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Hyperbilirubinemia OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Conj... OMIM:211600
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Retinal dystrophy, Hyperbilirubinemia ORPHA:713
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentrati... ORPHA:435660
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Bartter Syndrome, Type 3
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Increased circulating renin level OMIM:607364
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Jaundice, Splenomegaly OMIM:182900
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hyperaldosteronism, Hypokalemia, Hypomagnesemia, Increased circulating renin level OMIM:612780
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Galactokinase Deficiency
Hypergalactosemia, Hypercholesterolemia, Cataract, Increased level of galactitol in plasma, Nucle... ORPHA:79237
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Elevated circulating creatine kinase concentration... OMIM:613153
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Cowden Syndrome 6
Hypothyroidism, Hyperthyroidism, Ovarian cyst, Thyroiditis, Goiter, Hydrocele testis, Thyroid ade... OMIM:615109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Cystinosis
Hypokalemia, Hypophosphatemia, Portal hypertension ORPHA:213
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating acylcarnitine concentration ORPHA:26792
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Calcinosis, Hyperbilirubinemia, Elevated... OMIM:613471
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Polycystic ovaries, Goiter, Abnormal calcium-phosphate regulating hormone level, Testicular neopl... ORPHA:457059
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Increased serum iron, Hyperbilirubinemia, Increased total iron bin... ORPHA:98870
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... OMIM:238600
Smith-Magenis Syndrome
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia OMIM:615381
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract OMIM:268050
Spherocytosis, Type 4
Hyperbilirubinemia, Jaundice, Splenomegaly OMIM:612653
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Cataract, Retinal detachment, Optic nerve hyp... OMIM:615181
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Increased total bilirubin, Hyperuricemia OMIM:232800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepatosplenomegaly, ... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Elevated circulating alanine aminotransferase concentration, Hepatic ... OMIM:617049
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothyroidism, Thyroid agenesis, Congenital hypothyroidism, Elevated circulating thyroid-stimula... OMIM:218700
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Hepatomegaly, Xanthelasma, Hypertrig... ORPHA:412
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Medullary thyroid carcinoma, Parathyroid adenoma, Pheochromocytoma, H... OMIM:171400
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Atretic gallbladder, Decreased liver f... ORPHA:30391
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Retinal detachment, Vitreoretinopathy ORPHA:250984
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hyponatremia, Increased circulating renin level, Hyperkalemia, Glucocortocoid-ins... ORPHA:171876
Hepatocellular Carcinoma
Hypokalemia, Abnormality of the liver, Hyponatremia, Portal hypertension, Hypercalcemia, Hepatome... ORPHA:88673
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Congenital Hypothyroidism
Hypothyroidism, Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, G... ORPHA:442
Retinitis Pigmentosa 23
Rod-cone dystrophy, Posterior subcapsular cataract OMIM:300424
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Elevated circul... ORPHA:370
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Vipoma
Hypokalemia, Hypercalcemia, Hepatomegaly, Neoplasm of the liver, Extrahepatic cholestasis, Intrah... ORPHA:97282
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Iris coloboma, Cataract, Hypophosphatemia, Aplasia/Hypop... ORPHA:2611
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatic steatosis, Hyperlipidemia, Recurrent pan... ORPHA:444490
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Hyp... OMIM:618805
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:616689
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Hyponatremia, Hepatomegaly, Jaundice... ORPHA:1667
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Unconjugated hyperbilirubinemia OMIM:266200
Congenital Generalized Lipodystrophy
Hepatic steatosis, Increased C-peptide level, Hypercholesterolemia, Hepatomegaly, Hypertriglyceri... ORPHA:528
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Fanconi-Bickel Syndrome
Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:95717
Cowden Syndrome 1
Hypothyroidism, Hyperthyroidism, Ovarian carcinoma, Ovarian cyst, Thyroiditis, Goiter, Hydrocele ... OMIM:158350
Enhanced S-Cone Syndrome
Vitreoretinopathy, Cataract, Pigmentary retinopathy, Macular edema, Retinoschisis OMIM:268100
Carney Complex, Type 1
Thyroid follicular hyperplasia, Elevated circulating growth hormone concentration, Pheochromocyto... OMIM:160980
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Hyperbilirubinemia, Biliary atresia, Acho... OMIM:615710
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Spherocytosis, Type 2
Hyperbilirubinemia, Jaundice, Splenomegaly OMIM:616649
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating alanine aminotransferase concentration, Increased serum bile acid concentrat... OMIM:619685
Caroli Syndrome
Hepatic failure, Portal hypertension, Cirrhosis, Cholangitis, Cholangiocarcinoma, Conjugated hype... ORPHA:480520
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy ORPHA:329314
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Retinal Detachment
Retinal detachment OMIM:180050
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration, Marginal corneal dystrophy OMIM:210370
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoplastic spleen, Hypokalemia, Hepatic failure, Abnormality ... ORPHA:699
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Astigmatism, Papilledema, Rod-cone dystrophy, Retinal vascular tortuosity OMIM:619471
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Elevated hepatic tran... ORPHA:2137
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Primary Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Splenomegaly, Pancreatitis, Cirrhosis ORPHA:90970
Cataract 16, Multiple Types
Retinal dystrophy, Developmental cataract, Posterior polar cataract OMIM:613763
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Pierson Syndrome
Hypoproteinemia, Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia ... OMIM:609049
Autoimmune Thyroid Disease, Susceptibility To, 3
Thyroiditis OMIM:608175
Mccune-Albright Syndrome
Abnormal endocrine physiology, Goiter, Increased serum testosterone level, Abnormality of the thy... ORPHA:562
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Jaundice, Giant cell hepatitis, Elevated hepatic transaminase, Cho... OMIM:613404
Refsum Disease, Classic
Rod-cone dystrophy, Cataract, Retinal degeneration, Elevated levels of phytanic acid OMIM:266500
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Decreased plasma carnitine, Hepatomegaly, Decreased carnitine level in liver, ... OMIM:212140
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Cataract, Retinal detachment OMIM:604841
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Bardet-Biedl Syndrome 9
Retinal degeneration, Cataract, Astigmatism, Rod-cone dystrophy, Bone spicule pigmentation of the... OMIM:615986
Cystic Echinococcosis