| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Stargardt Disease 1 |
|
Macular degeneration, Bull's eye maculopathy, Retinitis pigmentosa inversa |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Drusen, Macular scar |
OMIM:615439 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Tip-toe gait, Hand tremor, Decreased motor nerve conduction velocity, Incoord... |
OMIM:302800 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axonal degeneration/rege... |
OMIM:614436 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment, Tremor, Loss of ... |
OMIM:208920 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| 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 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... |
OMIM:606482 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Hyperlipidemia, Distal sensory impairment, Decreased number of perip... |
OMIM:604484 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... |
OMIM:614322 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, Basal lamina onion bulb formation, Decreased motor nerve conduction v... |
OMIM:214400 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R... |
OMIM:610951 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Retinal pigment epithelial mottling, Cerebellar vermis atrophy, Inability to ... |
OMIM:619389 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Retinal atrophy, Vitreous hemorrhage, Retinal detachment,... |
OMIM:312700 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypog... |
OMIM:617872 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... |
OMIM:601596 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Pigmentary retinopathy, Impaired vibration sensation in the lower limbs, Abno... |
ORPHA:88628 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... |
ORPHA:98856 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle action potential amp... |
OMIM:602433 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia |
OMIM:620085 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Retinopathy, Axonal degenera... |
ORPHA:478029 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Retinopathy, Axonal degenera... |
OMIM:616811 |
| Iron Overload, Susceptibility To |
|
Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co... |
OMIM:620121 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:232700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Gait disturbance, Steppage gait, Distal sensory impairment, Axonal degeneration |
OMIM:616155 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My... |
OMIM:256731 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Tongue fasciculations, Falls, Failure to thrive, Axonal degeneration, Clonus |
OMIM:618811 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... |
ORPHA:75376 |
| Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Pe... |
OMIM:604168 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Axonal degenerati... |
OMIM:615490 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Spastic paraparesis, Peripheral demyelination, Loss of ambulation, Clonus, Ataxia, Un... |
OMIM:614877 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Incoordination, Gait ataxia, Dysmetria, Babinski s... |
OMIM:616204 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy |
OMIM:600790 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Atrial septal defect, Hypog... |
OMIM:620211 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| De Sanctis-Cacchione Syndrome |
|
Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Olivopontocerebellar atrophy, ... |
OMIM:278800 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy |
ORPHA:35 |
| Neonatal Hemochromatosis |
|
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentration |
ORPHA:446 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Peripheral axonal de... |
OMIM:604320 |
| Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Diaphragmatic paralysis, Peripheral axonal neuropathy, Frequent falls, Axonal degeneration |
OMIM:620011 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... |
OMIM:617672 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration, Waddling gait |
OMIM:618138 |
| Null Syndrome |
|
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Inability to walk, Peripheral ... |
ORPHA:280234 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Cystoid macular ed... |
OMIM:600059 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia, Hypoglycemia |
ORPHA:664 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,... |
OMIM:615160 |
| Retinal Dystrophy And Obesity |
|
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re... |
OMIM:616188 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperi... |
ORPHA:35878 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:79159 |
| Amyotrophy, Hereditary Neuralgic |
|
Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:306000 |
| Cerebrotendinous Xanthomatosis |
|
Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si... |
ORPHA:909 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Dilated cardiomyopathy, Increased circulating ferritin concentration, Abnormality of iron homeost... |
ORPHA:79230 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Spastic paraplegia, Impaired vibrato... |
OMIM:615491 |
| Orthostatic Hypotension 1 |
|
Elevated circulating dihydroxyphenylacetic acid concentration, Neonatal hypoglycemia, Increased b... |
OMIM:223360 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurode... |
OMIM:610217 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Hyperuricemia, Hyponatremia, Increased blood urea nitrogen, Diabetes mellitus |
OMIM:613845 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k... |
OMIM:600649 |
| Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... |
OMIM:231100 |
| Gerstmann-Straussler Disease |
|
Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Myoclonus, Gait ataxia, Tre... |
OMIM:137440 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... |
ORPHA:324575 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Optically empty vitreous, Retinal detachment, Retinal dots, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia |
OMIM:261750 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, ... |
OMIM:606069 |
| Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Limb ataxia, Gait ataxia, Chorioretinal atrophy, Action tremor, Ret... |
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 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... |
ORPHA:231111 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Gracile Syndrome |
|
Increased circulating iron concentration, Increased serum pyruvate, Increased circulating ferriti... |
OMIM:603358 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic atrophy, Cerebellar atrophy, Failure to thrive, Akinesia, Optic disc pallor, Lower limb spa... |
OMIM:618249 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia... |
ORPHA:230 |
| Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Cardiomyopathy, Hypoglycemia, Hyperlipidemia, Elevated circulating creat... |
OMIM:232400 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Adrenomyeloneuropathy |
|
Spasticity, Progressive spastic paraparesis, Distal sensory impairment, Axonal degeneration, Babi... |
ORPHA:139399 |
| Hemochromatosis, Type 2B |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:613313 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... |
ORPHA:101 |
| Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Alzheimer Disease 3 |
|
Cerebral cortical atrophy, Neurofibrillary tangles, Myoclonus, Abnormality of extrapyramidal moto... |
OMIM:607822 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericar... |
OMIM:614702 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia |
OMIM:266150 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Alopecia, Cardiomyopathy, Increased circulating ferriti... |
OMIM:235200 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concen... |
OMIM:618120 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Cardiomyopathy, Recurrent hypoglycemia, Hypertroph... |
OMIM:212140 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hypertrichosis, Hy... |
OMIM:262190 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia, Cardiomyopathy |
OMIM:616483 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
| Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
| Alzheimer Disease 9, Susceptibility To |
|
Cerebral cortical atrophy, Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyra... |
OMIM:608907 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hyperammonemia, Hypoglycemia |
OMIM:620137 |
| Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles |
OMIM:605055 |
| Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen, Enlarged kidney |
ORPHA:251004 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Cerebral cortical atrophy, Spasticity, Resting tremor, Neurofibrillary tangles, Akinesia, Rigidit... |
OMIM:616840 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... |
OMIM:602390 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Glycosuria, Hypoglycemia, Hypophosphatemia, Hepatomegaly, Diabetes mellitus |
OMIM:616026 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Splenomegaly, Fasting hypoglycemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:613027 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Diabetes mellitus, Aceruloplasminemia, Increased circul... |
OMIM:604290 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Hyperammonemia, Ventricular ... |
OMIM:620609 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
ORPHA:766 |
| Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Increased circulating iron concentration, Cardiomyopathy, Increa... |
OMIM:604250 |
| Timothy Syndrome |
|
Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect,... |
OMIM:601005 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... |
OMIM:616278 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Cerebral cortical atrophy, Neurofibrillary tangles, Myoclonus, Parkinsonism, Oculomotor apraxia, ... |
ORPHA:1020 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Hyperammonemia, Eleva... |
OMIM:201475 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Car... |
OMIM:255120 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
| Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Trichorrhexis nodosa, Woolly hair, Uncombable hair, Bri... |
OMIM:614602 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Hyperglycemia, Splenomegaly, Cardio... |
ORPHA:465508 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, Elevated circulating creatine kinase concen... |
OMIM:620300 |
| Hyperferritinemia With Or Without Cataract |
|
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... |
OMIM:600886 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Increased circulating iron concentration, Elevated hepatic iron concentration |
OMIM:206100 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Kanzaki Disease |
|
Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Axonal degeneration |
OMIM:609242 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Increased blood urea nitrogen |
ORPHA:90321 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Splenomegaly, Elevated hepatic iron concentration, ... |
OMIM:615234 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis |
OMIM:619132 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormality of iron homeostasis, Splenomegaly, Hypertrophic cardiomyopathy |
ORPHA:848 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... |
OMIM:615751 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Neurofibrillary tangles, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Tremor, ... |
OMIM:601104 |
| Methylmalonic Aciduria, Cblb Type |
|
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Hype... |
OMIM:251110 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Decreased circulating carnitine concentration, Hypoglycemia, Hyperammonemia, Hyperleuci... |
OMIM:210210 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Neurof... |
ORPHA:199351 |
| Dietary Iron Overload Disease |
|
Increased circulating ferritin concentration, Abnormal heart morphology, Elevated hepatic iron co... |
ORPHA:139507 |
| Niemann-Pick Disease, Type C1 |
|
Spasticity, Neurofibrillary tangles, Cataplexy, Gait ataxia, Neuronal loss in central nervous sys... |
OMIM:257220 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
| Supranuclear Palsy, Progressive, 2 |
|
Falls, Neurofibrillary tangles, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Rigidity,... |
OMIM:609454 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Elevated hepatic iron concentration, Increased circulating ferr... |
ORPHA:53693 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Fine hair, Tetralo... |
OMIM:222470 |
| Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Splenomegaly, Elevated hepatic iron concentration, Hepatomegaly, Abnormality ... |
ORPHA:231222 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Neurofibrillary tangles, Apraxia, Parkinsonism, Neuronal loss in centr... |
OMIM:607485 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Glycosuria, Reduced haptoglobin level, Increased blood ... |
ORPHA:447 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles |
OMIM:606688 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... |
ORPHA:300298 |
| Alzheimer Disease 4 |
|
Apraxia, Senile plaques, Neurofibrillary tangles |
OMIM:606889 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Spasticity, Intention tremor, Neurofibrillary tangles, Ataxia |
OMIM:117300 |
| Syndromic Diarrhea |
|
Abnormal heart morphology, Tetralogy of Fallot, Trichorrhexis nodosa, Splenomegaly, Ventricular s... |
ORPHA:84064 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Abnormality of iron homeostasis, Diabet... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Abnormality of iron homeo... |
ORPHA:231214 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hypertrophi... |
ORPHA:309854 |
| Niemann-Pick Disease, Type C2 |
|
Spasticity, Neurofibrillary tangles, Cataplexy, Ataxia |
OMIM:607625 |
| Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
