| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Perip... |
OMIM:302800 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Impaired distal vibration sensation, Tip-toe gait, Peripheral axonal degeneration, Decreased moto... |
OMIM:614436 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Peripheral axonal degeneration, Oculomo... |
OMIM:208920 |
| Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Optic atrophy, Retinal degeneration, Limb ataxia, Ataxia, Babinski sign, Lower limb ... |
OMIM:614322 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:606482 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:214400 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine concentration, Hepat... |
OMIM:617872 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... |
ORPHA:98856 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar vermis atrophy, Inability to walk, Retinal pigment epithelial mottling, Ataxia, Periph... |
OMIM:619389 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Optic atrophy, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, Pigm... |
OMIM:610951 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... |
OMIM:601596 |
| Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Rod-cone dystrophy, Abnormal sensor... |
ORPHA:88628 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Gait ataxia, Impaired vibration sensation at ankles, Abnormality of peripheral nerve conduction, ... |
ORPHA:90103 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Babinski sign, Abnormal lowe... |
OMIM:602433 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Type II diabetes mellitus, Elevated transferrin satu... |
OMIM:620121 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Hyporeflective spaces on macular OCT, Choriocapillaris atroph... |
ORPHA:59181 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Retinopathy, Myoclonic spasms, Abnormal autonomic nervous system physiology... |
ORPHA:478029 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypoglycemia, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Neurodegeneration With Brain Iron Accumulation |
|
Chorea, Spasticity, Retinopathy, Optic atrophy, Rigidity, Abnormality of extrapyramidal motor fun... |
ORPHA:385 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Global brain atrophy, Spasticity, Retinopathy, Optic atrophy, Optic neuropathy, Cerebellar atroph... |
OMIM:616811 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Gait disturbance, Distal sensory impairment, Axonal degeneration, Steppage gait |
OMIM:616155 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Falls, Failure to thrive, Clonus, Tongue fasciculations, Axonal degeneration |
OMIM:618811 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebral cortical atrophy, Dysdiadochokinesis, Retinal degeneration, Clumsiness, Myoclonus, Ataxi... |
OMIM:256731 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Chorea, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Periph... |
OMIM:604168 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Inability to walk, Decreased motor nerve ... |
OMIM:615490 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
| Peroxisome Biogenesis Disorder 8B |
|
Cerebellar vermis atrophy, Optic atrophy, Babinski sign, Dysesthesia, Frequent falls, Hypertonia,... |
OMIM:614877 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Hepatomegaly, Cardiomyopathy |
ORPHA:35 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Gait ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Oculomotor apraxia, I... |
OMIM:616204 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
| Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... |
OMIM:618858 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Small for gestational age, Peripheral axonal degeneration, D... |
OMIM:604320 |
| Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Posterior vitreous detach... |
OMIM:616468 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia |
ORPHA:314802 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration, Waddling gait |
OMIM:618138 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Abnormality of iron homeostasis, Glucose intolerance |
ORPHA:75563 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... |
ORPHA:35878 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Diaphragmatic paralysis, Axonal degeneration, Frequent falls, Peripheral axonal neuropathy |
OMIM:620011 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
| Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
| Null Syndrome |
|
Progressive spastic paraplegia, Abnormality of peripheral nerve conduction, Abnormal cerebellum m... |
ORPHA:280234 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
| De Sanctis-Cacchione Syndrome |
|
Global brain atrophy, Spasticity, Optic atrophy, Choreoathetosis, Ataxia, Babinski sign, Scissor ... |
OMIM:278800 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
| Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Hyperuricemia, Splenomegaly, Hepatomegaly |
OMIM:261750 |
| Hemochromatosis Type 2 |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Dilated cardiomyopathy, Diabete... |
ORPHA:79230 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibration sensation at ankles, Optic atrophy, Spastic paraplegia, Babinski sign, Opto-ch... |
OMIM:615491 |
| Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia, Neonatal hypoglycemia |
OMIM:223360 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy |
OMIM:162100 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased plasma carnitin... |
ORPHA:79159 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Increased blood urea nitrogen, Diabetes mellitus, Hyponatremia, Hypomagnesemia |
OMIM:613845 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... |
OMIM:600649 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Spasticity, Optic atrophy, Dysdiadochokinesis, Babinski sign, Dysmetria, Hyp... |
OMIM:610217 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Decr... |
ORPHA:324575 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Fine hair, Diabetes mellitus, Hypoglycemia, Hyperc... |
ORPHA:181393 |
| Cerebrotendinous Xanthomatosis |
|
Somatic sensory dysfunction, Global brain atrophy, Optic atrophy, Abnormal auditory evoked potent... |
ORPHA:909 |
| Hemochromatosis, Type 4 |
|
Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Increased circula... |
OMIM:606069 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Weight loss, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus,... |
OMIM:137440 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... |
OMIM:305390 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Leukoencephalopathy With Ataxia |
|
Gait ataxia, Choroidal neovascularization, Limb ataxia, Retinoschisis, Chorioretinal atrophy, Opt... |
OMIM:615651 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu... |
ORPHA:230 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Elevated circulating creatine kinase concentration, Pericarditis, Increased... |
ORPHA:231111 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, N... |
ORPHA:293964 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Hypoglycemia, Hepato... |
OMIM:232400 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... |
OMIM:604367 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hyperalaninemia, Decreased plasma free carnitine, Left ventricular hyper... |
OMIM:619048 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Abnormal pyramidal sign, Optic atrophy, Akinesia, Truncal ataxia, Choreoathetosis, Failure to thr... |
OMIM:618249 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
| Adrenomyeloneuropathy |
|
Progressive spastic paraparesis, Spasticity, Abnormality of central somatosensory evoked potentia... |
ORPHA:139399 |
| Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetral... |
OMIM:601005 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hyperalaninemia, Increased serum pyruvate, Hepatomegaly |
OMIM:266150 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Hypoglycemia, Hyperammonemia,... |
OMIM:614702 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Long eyelashes, Hypocalcemia |
ORPHA:163693 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
| Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
| Hemochromatosis, Type 1 |
|
Alopecia, Splenomegaly, Glucose intolerance, Diabetes mellitus, Increased circulating ferritin co... |
OMIM:235200 |
| Hemochromatosis, Type 2B |
|
Increased serum iron, Elevated transferrin saturation, Increased circulating ferritin concentrati... |
OMIM:613313 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia, Cardiomyopathy |
OMIM:616483 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia |
OMIM:620137 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy |
OMIM:520000 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperammonemia, Dilated cardiomyopathy, Elevated circulating creatine kinase concen... |
OMIM:618120 |
| Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hepatomegaly |
OMIM:608600 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Transient hyperlipi... |
OMIM:255120 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Impaired gluconeogenesis, Decreased plasma carnitine, Elevated circulating creati... |
OMIM:212140 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Decreased plasma carnitine, Elevated plasma branched chain amino acids, Hypoglycemia, Hyperammone... |
ORPHA:2394 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Hyperlipidemia, Postprandial hyperglycemia, Ketotic hypoglycemia |
ORPHA:2089 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Recurrent hypoglycemia |
ORPHA:94086 |
| Alzheimer Disease 9, Susceptibility To |
|
Cerebral cortical atrophy, Abnormality of extrapyramidal motor function, Hippocampal atrophy, Neu... |
OMIM:608907 |
| Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
| Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles |
OMIM:605055 |
| Angioedema, Hereditary, 1 |
|
Hypoesthesia, Axonal degeneration, Peripheral axonal neuropathy |
OMIM:106100 |
| Alzheimer Disease 3 |
|
Cerebral cortical atrophy, Apraxia, Abnormality of extrapyramidal motor function, Myoclonus, Gait... |
OMIM:607822 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Diabetes mellitus, Hypoglycemia, Hepatomegaly, Hypouricemia |
OMIM:616026 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Abnormal pyramidal sign, Cerebral cortical atrophy, Akinesia, Parkinsonism, Rigidity,... |
OMIM:616840 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
| Aceruloplasminemia |
|
Diabetes mellitus, Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin conce... |
OMIM:604290 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Enlarged kidney, Hypercalcemia |
ORPHA:251004 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Type II diabetes mellitus, Hepatosplenomegaly, Increased circulating ferritin concentration, Hepa... |
OMIM:616860 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
| Hemochromatosis, Type 2A |
|
Increased serum iron, Dilated cardiomyopathy, Increased circulating ferritin concentration, Hepat... |
OMIM:602390 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Type II diabetes mellitus, Increased LDL cholesterol concentration, Hyp... |
OMIM:615812 |
| Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Postural tremor, Leber optic atrophy, ... |
OMIM:535000 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia |
ORPHA:199296 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly,... |
ORPHA:79237 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Decreased plasma carnitine, Elevated circulating creatine kinase concent... |
OMIM:201475 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Diabetes mellitus, Increased ci... |
ORPHA:465508 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia, Hypertrophic cardiomyopathy, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Neonatal hypoglycemia, Elevated circulating creatine kinase concentratio... |
OMIM:212138 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Low plasma citrulline |
OMIM:261680 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Hereditary Renal Hypouricemia |
|
Increased blood urea nitrogen, Hypouricemia |
ORPHA:94088 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Cerebral cortical atrophy, Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Ataxia, Neurofib... |
ORPHA:1020 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hyperinsulinemic hypoglycemia, Abnormal circulating fat... |
ORPHA:2298 |
| Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased serum ir... |
OMIM:604250 |
| 46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circula... |
ORPHA:766 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
| Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Brittle hair, Decreased serum iron, Woolly hair, Uncombable hair, Hepatomeg... |
OMIM:614602 |
| Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:616278 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Hepatomegaly, Decreased plasma carnitine |
OMIM:201450 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Hepatomegaly, Elev... |
OMIM:615234 |
| Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Hepatomegaly |
ORPHA:90321 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:223900 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618839 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618835 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Hyperleucinemia, Decreased plasma carnitine, Acute hyperammonemia, Hypoglycemia, Hypera... |
OMIM:210210 |
| African Iron Overload |
|
Elevated transferrin saturation, Diabetes mellitus, Increased circulating ferritin concentration,... |
ORPHA:139507 |
| Progressive Non-Fluent Aphasia |
|
Frontotemporal cerebral atrophy, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor funct... |
ORPHA:100070 |
| Kanzaki Disease |
|
Cerebral atrophy, Distal sensory impairment, Axonal degeneration, Peripheral axonal neuropathy |
OMIM:609242 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Amyotrophic lateral sclerosis, Neurofibrillary tangles |
OMIM:619132 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... |
OMIM:615751 |
| Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Parkinsonism, Rigidit... |
OMIM:601104 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis, Splenomegaly, Hepatomegaly |
ORPHA:848 |
| Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Frontotemporal cerebral atrophy, Rigidity, Clumsiness, Eyelid apraxia, Parkinsonism w... |
ORPHA:199351 |
| Niemann-Pick Disease, Type C1 |
|
Gait ataxia, Spasticity, Cataplexy, Ataxia, Neuronal loss in central nervous system, Neurofibrill... |
OMIM:257220 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... |
ORPHA:49041 |
| Supranuclear Palsy, Progressive, 2 |
|
Retrocollis, Granulovacuolar degeneration, Gait imbalance, Falls, Akinesia, Postural tremor, Park... |
OMIM:609454 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hypoglycemia, Hyperbilirubinemia, Neonatal hypoglycemia |
OMIM:613986 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Elevated he... |
ORPHA:231222 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis, Abnormal heart morphology, Hyponatremia |
ORPHA:391673 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Glycosuria, Unconjugated hyperbilirubinemia, Decreased serum iron, Inc... |
ORPHA:447 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Parkinsonism, Apraxia, Neuronal loss in central nervous system, Neurof... |
OMIM:607485 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hirsutism, Decreased HDL cholesterol concentration, ... |
OMIM:151660 |
| Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia, Myocardial steatosis |
OMIM:228100 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles |
OMIM:606688 |
| Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Curly hair, Abnormality of iron homeostasis, Ventricular septal... |
OMIM:222470 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased transferrin saturation, Hepatosplenomegaly, Increased circulating ferritin concentratio... |
ORPHA:300298 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Spasticity, Intention tremor, Neurofibrillary tangles |
OMIM:117300 |
| Alzheimer Disease 4 |
|
Apraxia, Senile plaques, Neurofibrillary tangles |
OMIM:606889 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis, Ventricular septal defect, Trichorrhexis nodosa, Brittle hair, B... |
ORPHA:84064 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Dilated cardiomyopathy, Hepatosplenomegaly, Diabetes mellitus, S... |
ORPHA:231226 |
| Primary Fanconi Renotubular Syndrome |
|
Glycosuria, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypoglycemia, Hypophosphat... |
ORPHA:3337 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Dilated cardiomyopathy, Hepatosplenomegaly, Diabetes mellitus, H... |
ORPHA:231214 |
| Fructose Intolerance, Hereditary |
|
Hyperuricemia, Glycosuria, Hypophosphatemia, Hyperbilirubinemia, Hypoglycemia, Hepatomegaly, Bica... |
OMIM:229600 |
| Niemann-Pick Disease, Type C2 |
|
Cataplexy, Spasticity, Ataxia, Neurofibrillary tangles |
OMIM:607625 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic ca... |
ORPHA:309854 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Perimembranous ventricular s... |
OMIM:600001 |
| Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
