Fructosuria, Essential |
|
Impairment of fructose metabolism |
OMIM:229800 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Peroneal mu... |
ORPHA:98856 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Type I transferrin isoform profile |
OMIM:301031 |
Fructose And Galactose Intolerance |
|
Fructose intolerance, Galactose intolerance |
OMIM:229500 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fatigue, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypogl... |
ORPHA:79299 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Hyperlipidemia,... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... |
OMIM:620068 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Pain, Decreased nerve conduction velocity, Decreased number of larg... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118210 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Extremely elevated creatine kinase, Peripheral axonal neuropathy, Demyelinating sensory neuropath... |
ORPHA:99939 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Exercise intolerance, Peripheral axonal neuropathy, Achilles tendon... |
ORPHA:2596 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... |
OMIM:618138 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Dista... |
ORPHA:206594 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... |
ORPHA:178400 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... |
OMIM:167320 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Ankle flexion contracture, Dec... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Hand muscle weakness, Upper li... |
OMIM:608323 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
Cystinuria |
|
Abnormality of amino acid metabolism |
ORPHA:214 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Elevated circ... |
OMIM:616687 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Dista... |
OMIM:601098 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Fatigue, Exercise intolerance, Progressive external ophthalmoplegia, Diabetes mellitus, Proximal ... |
OMIM:609286 |
Carpal Tunnel Syndrome 1 |
|
Reduced circulating vitamin B6 level |
OMIM:115430 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Decreased number of large peri... |
OMIM:615376 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:145900 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... |
OMIM:605253 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Elevated circulating creatine kinase concentration, Fatt... |
OMIM:620249 |
Hyperinsulinism Due To Insr Deficiency |
|
Fatigue, Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-pepti... |
ORPHA:263458 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Onion bulb formation, Decreased d... |
OMIM:607684 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... |
ORPHA:59135 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,... |
OMIM:613287 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Small hypothenar eminenc... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera... |
OMIM:618184 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Distal muscle weakness, Decreased number of large peripheral myelin... |
OMIM:608673 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... |
OMIM:600361 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Elevated circulating creatine kinase conce... |
ORPHA:101082 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Peripheral axonal... |
ORPHA:435387 |
Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... |
ORPHA:399096 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Foot dorsiflexor weakn... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Onion bulb formation, Urinary incontinence, Decreased nerve conduction v... |
OMIM:615284 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne... |
OMIM:608340 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers... |
ORPHA:457050 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Distal muscle weakness, Fatty replacement of skeletal muscle, Decreased compound muscle action po... |
OMIM:618279 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Distal muscle weakness, ... |
OMIM:605285 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Hand muscl... |
ORPHA:2932 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, D... |
ORPHA:99944 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Foot dorsiflexor weakness, Distal muscle weakness, Thenar muscle atrophy, Segmental peripheral de... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Distal muscle weakness, ... |
OMIM:606595 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Distal muscle weakness, Spinal muscular atrophy, Camptodactyly of... |
OMIM:604320 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Exercise intolerance, Progressive external ophthalmoplegia, Cerebe... |
OMIM:610131 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Decreased number of peri... |
OMIM:600882 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neurop... |
ORPHA:101077 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Abdo... |
OMIM:620166 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... |
OMIM:162500 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal degene... |
OMIM:302800 |
Charcot-Marie-Tooth Disease Type 4A |
|
Distal muscle weakness, Hand muscle weakness, Decreased nerve conduction velocity, Quadriceps mus... |
ORPHA:99948 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... |
OMIM:610100 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration... |
ORPHA:79240 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Progressive distal muscl... |
OMIM:609452 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Gowers sign, Elevated circulating thyroid-stimulating hormo... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Gast... |
ORPHA:276435 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypogonadotropic hypog... |
OMIM:604168 |
Osteoporosis, Juvenile |
|
Low serum calcitriol |
OMIM:259750 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Distal upper ... |
OMIM:618912 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Claw hand deformity, Spinal mu... |
OMIM:605726 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Increased C-peptide... |
ORPHA:276580 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Fatiguable weakness of proximal limb muscles,... |
ORPHA:90117 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, P... |
OMIM:615575 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Limb muscle weakness, Onion bulb formation... |
OMIM:620378 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Decreased distal sensory nerve actio... |
OMIM:618400 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Distal lower limb amyotrophy, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Ax... |
OMIM:615185 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Shoulder pain, Distal muscle ... |
ORPHA:101081 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... |
OMIM:611588 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle wea... |
ORPHA:329478 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Distal lower limb amyotrophy, Elevated circulating creatine kinase concentration, Thenar muscle a... |
ORPHA:352675 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Decreased number of la... |
OMIM:617087 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Cryptorchid... |
ORPHA:457205 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneratio... |
OMIM:620011 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue, Reactive hypoglycemia, Generalized muscle weakness, Hyperinsulinemia, Hyperhidrosis, Pan... |
ORPHA:276608 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... |
ORPHA:264580 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal amyotrophy... |
OMIM:607731 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... |
OMIM:302801 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Upper limb muscle weakn... |
OMIM:607791 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Upper limb muscle... |
OMIM:607677 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Exercise intolerance, Elevated circulatin... |
OMIM:620138 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Axonal degeneration, Lacti... |
OMIM:618811 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Abnormal glycosylation |
OMIM:615596 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Peroneal muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle weakness, The... |
OMIM:614751 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
Distal Myotilinopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Progressive dist... |
ORPHA:98911 |
Multifocal Motor Neuropathy |
|
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... |
ORPHA:641 |
Glycogen Storage Disease Ixd |
|
Exercise intolerance, Skeletal muscle atrophy, Distal muscle weakness, Hypoglycemia, Elevated cir... |
OMIM:300559 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Optic atrophy, Distal a... |
OMIM:311070 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal amyotrophy, Distal musc... |
OMIM:608895 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Distal muscle weakness, Claw hand deformity, Proteinuria, Elevated ... |
OMIM:614455 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, First do... |
ORPHA:139536 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Progressive muscle weak... |
OMIM:619024 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle w... |
OMIM:608627 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... |
OMIM:607678 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Elevated circulating creatine kinase concentr... |
OMIM:208920 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Distal muscle weakness, Proximal muscle ... |
OMIM:616040 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Increased C-peptide level, Episodic hy... |
ORPHA:276575 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cereb... |
ORPHA:497764 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration... |
ORPHA:254361 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... |
OMIM:606070 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Fatigue, Exercise intolerance, Recurrent myoglobinuria, Glyc... |
ORPHA:368 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Urinary incontinence, Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelin... |
OMIM:249900 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Cerebellar atrophy, Diffuse cerebral atrophy, Proteinuria, Recurrent myoglobinuria, Elev... |
OMIM:607426 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... |
ORPHA:600 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth... |
ORPHA:98897 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Elevated circulating... |
OMIM:248800 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration... |
ORPHA:868 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria |
OMIM:606528 |
Insulinoma |
|
Nonketotic hypoglycemia, Fatigue, Reactive hypoglycemia, Abnormality of the pancreatic islet cell... |
ORPHA:97279 |
Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocit... |
OMIM:614399 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Exercise intolerance, Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia... |
ORPHA:254875 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy, Peripheral demyelination, A... |
OMIM:607736 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Ankle w... |
OMIM:118300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness |
OMIM:605589 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy |
OMIM:620111 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
ORPHA:98896 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Tibialis anterior muscle atrophy, Peripheral axonal neuropathy, Lower limb ... |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Weak grip, Di... |
OMIM:619519 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... |
OMIM:162100 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog... |
ORPHA:169186 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Bulbar palsy, Facial palsy, Elevated circulating creatine kinase concentration, Gowers sign, Decr... |
OMIM:603511 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Progressive muscle weakness... |
OMIM:620285 |
Adrenomyeloneuropathy |
|
Back pain, Peripheral axonal degeneration, Urinary incontinence, Axonal degeneration, Adrenocorti... |
ORPHA:139399 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Urinary incont... |
ORPHA:101085 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Urinary incontinence, Cerebral atrophy, EEG abnormality, Axonal loss, Gliosis, A... |
OMIM:221770 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Proximal muscle weakness, Axonal degeneration, Upper limb muscle weakness, Lower limb muscle weak... |
OMIM:616155 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Progressive muscle weakness, Proximal amyotrophy, ... |
OMIM:605355 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... |
ORPHA:610 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... |
OMIM:606762 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
Null Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of periphera... |
ORPHA:280234 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Distal lower ... |
OMIM:619112 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Abnormal peripheral myelination, Hand muscle weakness, Limb-girdle muscle w... |
ORPHA:466768 |
Desminopathy |
|
Neck flexor weakness, Sudden cardiac death, Respiratory insufficiency due to muscle weakness, Pro... |
ORPHA:98909 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Proximal muscle weaknes... |
OMIM:255100 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Exercise intolerance, Scapular winging, Increased circulating ferritin concentration, Progressive... |
OMIM:600462 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased motor nerve conduction velocity, Decreased muscle mass, ... |
ORPHA:298 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination, Flexion contracture, Elevated circulating creatinine concentration, Abn... |
OMIM:616733 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... |
ORPHA:280356 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:619386 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Exercise intolerance, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration... |
OMIM:617950 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... |
OMIM:618404 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Total ophthalmoplegia, Progressive external ophtha... |
OMIM:157640 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Decreased sensory nerve conduction velocity, Recurrent urinary tract inf... |
OMIM:609033 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Foot dorsiflexor weakness |
OMIM:616039 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Distal lower limb amyotrophy, Optic atrophy, Abnormal myelination, Abnormality of the Achilles te... |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Segmental perip... |
OMIM:601455 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Abnormal response to glucagon stimu... |
ORPHA:79644 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Distal muscle weakness, Decreased nerve conduction velocity, Upper limb muscle weakness, Distal a... |
OMIM:302802 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Hip pain, An... |
ORPHA:100998 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Proteinuria, Abnormal circulating fatty-aci... |
ORPHA:263455 |
Wild Type Abeta2M Amyloidosis |
|
Shoulder pain, Decreased nerve conduction velocity, Abnormal tendon morphology, Macroglossia, Axo... |
ORPHA:85446 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Episodic hyperhidrosis, Hypoglyce... |
ORPHA:276556 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Proximal muscle weakness, Uppe... |
ORPHA:99950 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Urinary bladder sphincter dysfunction, Pain, Sciatica, Peripheral d... |
ORPHA:231445 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Ophthalmoplegia, Optic atrophy, Hyperinsulinemia, Hypogonadism, Type II diab... |
ORPHA:791 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Poor head control, Leukodystrophy |
OMIM:614932 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Ne... |
OMIM:245200 |
Infantile Refsum Disease |
|
Hepatomegaly, Facial palsy, Progressive muscle weakness, Elevated circulating phytanic acid conce... |
ORPHA:772 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612577 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Gowers sign, Pineal cyst, Cholecystit... |
ORPHA:98908 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness |
ORPHA:101078 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Increased cerebral lipofuscin, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia |
OMIM:610539 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy... |
ORPHA:3115 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit... |
ORPHA:319514 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal mitochon... |
ORPHA:99013 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cerebr... |
ORPHA:363400 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Distal amyotrophy, Demyelinating sensory neuropathy, Onion bulb f... |
OMIM:182815 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy |
DECIPHER:59 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Muscle weakness, Abnormality o... |
ORPHA:65684 |
Tyrosinemia Type 2 |
|
Abnormality of amino acid metabolism |
ORPHA:28378 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Hypospadias, Facial palsy, Spinal muscular atrophy, Elevated circula... |
OMIM:301830 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... |
ORPHA:397744 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Facial diplegia, Distal amyotrophy, Distal arthrogryposis, Peripheral hypomy... |
OMIM:616287 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... |
OMIM:616811 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Decreased activity of mitochondrial c... |
ORPHA:478029 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Poor head control, Decreased nerve conduction velocity, Cryptorchidism, Corpus... |
ORPHA:565624 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Halitosis, CNS demyelination, Peripheral demyelination, Hypermethioninemia |
OMIM:250850 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Distal lower limb muscle weakness, Onion bulb formation |
ORPHA:98916 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Progressive mus... |
OMIM:256810 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
Pernicious Anemia |
|
Malabsorption of Vitamin B12 |
OMIM:170900 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransfera... |
OMIM:271245 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma... |
ORPHA:275872 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Thenar ... |
OMIM:270685 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Cerebral cortical atrophy |
ORPHA:1188 |
Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Corpus callosum atrophy, Elevated circulating phytanic acid concentration, Op... |
OMIM:614877 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath... |
ORPHA:352470 |
Arts Syndrome |
|
Progressive muscle weakness, Optic atrophy, Spinal cord posterior columns myelin loss |
OMIM:301835 |
Essential Fructosuria |
|
Impairment of fructose metabolism |
ORPHA:2056 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Camptodactyly of finger, Acute rhabdomyolysis, Hypogonadotropic hypogonadism, Motor... |
ORPHA:48431 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, 3... |
ORPHA:26791 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Urinary incontinence, Proximal... |
OMIM:616688 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Abnorm... |
ORPHA:369873 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, P... |
OMIM:619518 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Axonal loss, Peripheral demyelination |
OMIM:616684 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Elevated circulating creatine kinase concentration, Decreased nerve conduction... |
OMIM:618733 |
Neuromyelitis Optica Spectrum Disorder |
|
Ocular pain, Functional abnormality of the bladder, Recurrent singultus, Neuronal loss in central... |
ORPHA:71211 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Hepatomegaly, Decreased sensory nerve conduction veloc... |
ORPHA:456312 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... |
OMIM:261680 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Decreased nerve cond... |
ORPHA:1933 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Decreased serum testosterone concentration, Streak ovary, Distal muscle ... |
ORPHA:168563 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Muscle weakness, EEG with generalized slo... |
ORPHA:2386 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Generalized muscle weakness, Optic atrop... |
OMIM:256600 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:609560 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Frontotemporal cerebral atrophy, Lower limb muscle weakness, Abnormality of peripheral nerve cond... |
ORPHA:101001 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... |
OMIM:613641 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Hypertriglyceridemia, Elevated... |
OMIM:613327 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Decreased nerve conduction velocity, Hyperammonemia, Hyperornithinemia, Cerebral co... |
OMIM:238970 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Axonal loss, Neurodegeneration, Peripheral demyelination, C... |
OMIM:617672 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Portal hypertension, Cerebral dysmyelination, Cryptorchidism... |
OMIM:609136 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Optic atrophy, Abnormal mitochondrial morpholog... |
OMIM:300438 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture, Cer... |
OMIM:619851 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarat... |
OMIM:619355 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Decreased nerve conduc... |
ORPHA:812 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Poor head control, Hypoglycemia, Elevated circulating aspartate aminotra... |
OMIM:245400 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness, Hepatosplenomegaly |
OMIM:614885 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology... |
ORPHA:2849 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Distal muscle weakness, Decre... |
OMIM:162400 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
Cednik Syndrome |
|
Poor head control, Proteinuria, Optic atrophy, Nephrotic syndrome, Hypogonadism, Abnormality of p... |
ORPHA:66631 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Proximal muscle weak... |
OMIM:251900 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hepatosplenomegaly,... |
ORPHA:79237 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:98890 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Respiratory insufficiency due to muscle weakness, Spl... |
OMIM:615512 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Gowers sign, Organic aciduria |
OMIM:612718 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy |
OMIM:183050 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Elevated hemoglobin A1c, Cerebral ... |
OMIM:616192 |
Trigeminal Neuralgia |
|
Trigeminal neuralgia, Cranial nerve compression, Ocular pain, Peripheral demyelination, CNS demye... |
ORPHA:221091 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ... |
ORPHA:3085 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... |
OMIM:262190 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated urinary 3-hydroxyb... |
ORPHA:42 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia |
OMIM:614741 |
Metachromatic Leukodystrophy |
|
Bulbar palsy, Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Gallbladd... |
OMIM:250100 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Precocious puberty in females, Insulin res... |
ORPHA:528 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Abnormal nerve conduction velocity |
ORPHA:101075 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Symmetric peripheral demyelination, Bowel incontinence, Corpus callosum atrophy, Decreased sweati... |
OMIM:169500 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Episodic abdominal pain, Urinary ur... |
ORPHA:101111 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Bulbar palsy, Facial palsy, Optic atrophy, Organic aciduria, Generalized amyotrophy, Neck muscle ... |
OMIM:614707 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Progressive muscle weakness, Multifocal epileptiform discharges, H... |
ORPHA:91131 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Poor head control, Facial palsy, Demyelinating motor n... |
OMIM:608804 |
Friedreich Ataxia |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Diabetes mellitus, Impaired visua... |
ORPHA:95 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian c... |
OMIM:246200 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Optic atrophy, Abnormal nerve conduction velocity, Muscle weakness |
ORPHA:99014 |
Optic Atrophy 11 |
|
Delayed CNS myelination, Optic nerve hypoplasia, Splenomegaly, Optic atrophy, EEG with focal shar... |
OMIM:617302 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Increased circulating farnesol concentration, Bilateral cryptorchidism, E... |
OMIM:618156 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Urinary incontinence, Upper limb muscle weakness,... |
ORPHA:206448 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Renal salt wasting, Renal magnesium wasting, En... |
ORPHA:199343 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Camptodactyly of finger, Muscle weakness |
ORPHA:2928 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Fatigue, Absent brainstem auditory responses, Progressive external ophthalmoplegia, Diabetes mell... |
ORPHA:1215 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem... |
ORPHA:79506 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Proteinuria, Hypertriglyceridemi... |
ORPHA:79086 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, EEG abnormality, Incr... |
ORPHA:1227 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia |
OMIM:619063 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Peroneal muscle atrophy, Decre... |
OMIM:270550 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Sensory axonal neuropathy, Abnormal... |
ORPHA:139578 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Torticollis, Hypergonadotropic hypogonadism, Elevated ... |
OMIM:613724 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Hypomethion... |
ORPHA:79282 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bowel incontinence, Axonal degeneration, Chronic pain, Abnormal sensory nerve conduction velocity... |
ORPHA:88628 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Delayed myelination, Symmetrical progre... |
OMIM:231670 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrop... |
OMIM:612674 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Urinary incontin... |
OMIM:604360 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Hyperthyroidism, Diastasis recti, Decreased response... |
ORPHA:488632 |
Dopamine Beta-Hydroxylase Deficiency |
|
Fatigue, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamine lev... |
ORPHA:230 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:619279 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Abnormality of amino acid metabolism |
ORPHA:220295 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Urinary incontinence, Bowel incontinence, Corpus callosum atrophy, Ophthalmop... |
ORPHA:171629 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level... |
OMIM:252160 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam... |
OMIM:246450 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Poor head control, Decreased compound muscle action potential amplitude, Flexion contracture, Myo... |
OMIM:618323 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... |
ORPHA:2020 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Cerebellar atrophy, Delayed CNS myelination, Hyperglutaminemia, La... |
OMIM:616299 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Optic disc pallor, Bulbar pal... |
OMIM:164400 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Urinary i... |
OMIM:603472 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Myopathy, Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Atrophy/Degeneration affecting the brainstem, Abnormal nerve con... |
OMIM:619862 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Generalized amyotrophy, Abnormal myelination |
ORPHA:401820 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Acute rhabdomyolysis, Elevated circulatin... |
OMIM:616878 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal... |
ORPHA:446 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Exercise intolerance, Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle fle... |
OMIM:618120 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Gowers sign, Flexion contracture, Oligosaccha... |
ORPHA:365 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Lower limb muscle weakness, CNS ... |
OMIM:610532 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal mu... |
OMIM:253601 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulatin... |
OMIM:619048 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1368 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Distal muscle weakness, Proximal mu... |
OMIM:601152 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Interictal epileptiform activity, Glycosuria, Type I diabetes mellitus, Hyperglycemia,... |
OMIM:618857 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Elevated circulating creatine ... |
ORPHA:228305 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating vitamin E concentration, Abnormality of amino acid metabolism |
ORPHA:309854 |
Potocki-Lupski Syndrome |
|
Delayed myelination, Hypocholesterolemia |
OMIM:610883 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness, Functional abnormality of the bladder |
OMIM:300076 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
Lethal Congenital Contracture Syndrome 5 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, D... |
OMIM:615368 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Op... |
ORPHA:98755 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Atrophy of the spinal co... |
OMIM:256840 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Myop... |
OMIM:602541 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Distal lower limb amyotrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve ... |
ORPHA:320406 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Facial palsy, Pro... |
OMIM:256850 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Cerebellar atrophy, Cerebral ... |
OMIM:261515 |
Hemochromatosis, Type 4 |
|
Fatigue, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferri... |
OMIM:606069 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Hypohidrosis, Muscular dystrophy, Abnormal nerv... |
ORPHA:2926 |
Cystinosis |
|
Fatigue, Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, R... |
ORPHA:213 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Decre... |
OMIM:203800 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Cryptorchidism, Optic atrophy... |
OMIM:615419 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Respiratory paral... |
ORPHA:79102 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Neck flexor weakness, Decreased response to growth hormone stimulation t... |
ORPHA:273 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism |
OMIM:607080 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hypoalbuminemia, H... |
ORPHA:79319 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria... |
ORPHA:369 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle fibers, Tubulointerstitial nephr... |
OMIM:124000 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decr... |
ORPHA:453533 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Complex organic aciduria, Gliosis, Leukodys... |
ORPHA:506 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, External ophthalmoplegia, Flexion contracture, Increas... |
OMIM:619026 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Progre... |
ORPHA:98907 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Onion bulb formation, Optic neuropathy, Tibialis muscle weakness, Ophtha... |
ORPHA:320375 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Decreased mitochondrial number, Elevated circulating creatine kinase concentr... |
ORPHA:352447 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG with per... |
ORPHA:206443 |
Classic Homocystinuria |
|
Abnormality of amino acid metabolism |
ORPHA:394 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Anhidrosis, Decreased nerve conduction ve... |
OMIM:201300 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Jaundice, Low p... |
OMIM:615751 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Optic disc pallor, Tibia... |
ORPHA:101076 |
Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity, Cerebellar atrophy |
OMIM:159550 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Fatigue, Splenomegaly, Glucose intolerance, Abnormality of iron ho... |
ORPHA:75563 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyp... |
OMIM:602579 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Congenital diaphragmatic hernia, Progressive muscle weakness, Neurodegenerati... |
OMIM:615919 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Decreased nerve c... |
ORPHA:477817 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, Insulin resista... |
ORPHA:769 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Gliosis, Hepatomegaly, Cer... |
ORPHA:191 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Multiple glomerular cysts, Segmental peripheral demyelination/remyelination, Ragged... |
ORPHA:255210 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, El... |
OMIM:201475 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Peripheral axonal neuropathy, Hypocholesterolemia |
OMIM:618810 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Myopathy, Steatorrhea, EMG: myopathic abnormalities, Hypocholesterolemia |
ORPHA:71 |
Galactose Epimerase Deficiency |
|
Impairment of galactose metabolism |
ORPHA:79238 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Stage 5 chronic kidne... |
OMIM:608612 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, External ophthalmople... |
ORPHA:485421 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Hypouricemia, Severe demyelination of the white matter... |
ORPHA:1187 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Leukodys... |
ORPHA:309256 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Poor head control, Diffuse cerebral atrophy, Decr... |
ORPHA:206436 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Splenomegaly, Cerebral atrophy, Mucopolysacchariduria, CNS demy... |
OMIM:272200 |
Stimmler Syndrome |
|
Aminoaciduria, Type II diabetes mellitus |
ORPHA:3199 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Leukodys... |
ORPHA:309263 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Abnormal myelination |
ORPHA:401830 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Decreased nerve conduction velocity, Cerebellar atrophy |
OMIM:618356 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Acute rhabdomyolysis, Elevated circulatin... |
ORPHA:480864 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Galactose Mutarotase Deficiency |
|
Impairment of galactose metabolism |
ORPHA:570422 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Cerebral atrophy, Myopathy, Myalgia, Limb-girdle muscular d... |
ORPHA:369847 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Demyelinating periph... |
ORPHA:90658 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Skeletal muscle atrophy, Optic disc pallor, Hypogly... |
OMIM:252010 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, G... |
ORPHA:436271 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Flexion co... |
OMIM:618186 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Optic atrophy, Cho... |
ORPHA:309271 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Fatigue, Hypoglycemia, Sudd... |
ORPHA:156 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... |
OMIM:606071 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Abnormal mitochondrial shape, Cerebral atrophy, Macroglossia, Mixed demyelina... |
ORPHA:412217 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... |
ORPHA:417 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyponatremia, Fatigue, Rigors... |
ORPHA:79139 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Lacticaciduria, Cerebral atrophy, EEG abnormality, Distal amyotrophy, Limb hy... |
OMIM:618247 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... |
OMIM:603358 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Brain atrophy, Cerebral atrophy, Abnormal myelination |
ORPHA:85179 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Gowers sig... |
OMIM:613157 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... |
OMIM:227810 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Hepatomegaly, Hip contracture, Renal insufficiency, Proteinuria, Abnormal per... |
OMIM:216400 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... |
ORPHA:2088 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Distal muscle weakness, Limb pain, Distal amyotrophy, Impaired ability to dress oneself, Motor ax... |
ORPHA:36386 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Fatigue, Low back pain, Hypoglycemia, Reduced C-peptide level, Ni... |
ORPHA:2126 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Dicarboxylic acidu... |
ORPHA:99901 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... |
ORPHA:2089 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Anhidrosis, Distal muscle weakness, Distal upper limb ... |
OMIM:613640 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Friedreich Ataxia |
|
Decreased sensory nerve conduction velocity, Diabetes mellitus, Optic atrophy, Decreased amplitud... |
OMIM:229300 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Dist... |
OMIM:606002 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Progressive external ophthalmoplegia, El... |
OMIM:619743 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... |
OMIM:613404 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased muscle mass, Cryptorchid... |
OMIM:615663 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due... |
OMIM:220110 |
Poliomyelitis |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Bulbar palsy, Hypoplasia of the musculatu... |
ORPHA:2912 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Elevated circ... |
OMIM:605711 |
De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Cerebral atrophy, Leukodystrophy, B... |
OMIM:278800 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Torticollis, Cerebral atrophy, Distal amyotrophy, Peripheral demyelination |
ORPHA:397946 |
Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity, Cerebellar atrophy, Urinary incontinence, Urinary urgency |
OMIM:603516 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperamm... |
OMIM:210210 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... |
OMIM:212138 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Hyperalaninemia, Lacticaciduria, Hyperprolinemia |
ORPHA:79246 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Flexio... |
OMIM:248370 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... |
ORPHA:96180 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb muscle weakness, Distal amyotrophy, Increased intramyocellular lip... |
OMIM:614487 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Abetalipoproteinemia |
|
CNS demyelination, Abetalipoproteinemia, Peripheral demyelination |
OMIM:200100 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Leukodystr... |
OMIM:266150 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... |
OMIM:615578 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Jaundice, Neurodegeneration, Mus... |
OMIM:214500 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Chronic axonal neuropathy, Cerebellar atrophy, Polyuria, Renal salt wasting, Enuresis, Hypokalemi... |
OMIM:612780 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Insulin resistance, Long penis, Hyperins... |
ORPHA:508 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl... |
OMIM:210200 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypertriglyceridemia, Hypoglycemia, Splenom... |
OMIM:306000 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Arthralgia, Hyperglycemia, Hypothyroidism, Fatigue, Hepatomegaly, Hypogona... |
ORPHA:465508 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Exercise intolerance, Hypoglycemia, Elevate... |
OMIM:614921 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Decreased muscle mass, Decreased muscle glycogen content, Upper l... |
ORPHA:263297 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentrati... |
OMIM:612073 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Pain, Facial hypotonia, Delayed CNS... |
OMIM:615273 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Decreased nerve conduction velocity, Optic atrophy, Adrenal insufficiency, Decrease... |
OMIM:614863 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... |
ORPHA:159 |
Alg12-Cdg |
|
Hyponatremia, Sandal gap, Proximal placement of thumb, Cryptorchidism, Delayed myelination, Long ... |
ORPHA:79324 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... |
ORPHA:254892 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Urinary incontinence, Delayed peripheral myeli... |
ORPHA:464282 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Abnormal circulating carnitine concentration, Renal tubular acidosis, Organic... |
ORPHA:431361 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
Galactosemia I |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase con... |
OMIM:230400 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Lower limb pain, Upper limb pain, Abnormality of peripheral nerve conduction, Neck pain |
ORPHA:101005 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Cyanosis |
OMIM:610773 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, M... |
OMIM:615595 |
Peho Syndrome |
|
Cerebellar atrophy, Optic atrophy, Hypsarrhythmia, Peripheral dysmyelination, Neuronal loss in ce... |
OMIM:260565 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormal nerve conduction velocity |
ORPHA:93476 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Aminoaciduria, Diabetes mellitus, Optic atrophy |
OMIM:249270 |
Spinocerebellar Ataxia 25 |
|
Urinary urgency, Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Faci... |
OMIM:608703 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypoglycemia, Hypospadias, Microvesicular hepatic steatosis, Hyperammonemia, Gliosis, ... |
OMIM:220111 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Organic aciduria |
OMIM:617184 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Poor ... |
ORPHA:2609 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypoglycemia, ... |
OMIM:616026 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Anhidrosis, Proteinuria, Abnormal peripheral myelination, Abno... |
OMIM:133540 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ... |
OMIM:614736 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Back pain, Torticollis, Fatigue, Hypospadias, Abdominal pain, Jaun... |
OMIM:619475 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Basal ... |
ORPHA:3008 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Hyperalaninemia, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia |
OMIM:619003 |
Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Cerebellar atrophy, Hypertriglyceridemia, Decreased ... |
ORPHA:167 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Peripheral axonal neuropathy, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormalit... |
ORPHA:99885 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... |
OMIM:606353 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell... |
OMIM:617575 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Poor head control, Cerebellar atrophy, Hy... |
ORPHA:95428 |
Post-Traumatic Pituitary Deficiency |
|
Fatigue, Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hy... |
ORPHA:95619 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar gliosis, Flexion contracture, Optic ... |
ORPHA:35069 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Abnormal gallbladd... |
ORPHA:512 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria, 3-Methylgluta... |
OMIM:604273 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Abnormal CNS myelination,... |
OMIM:610651 |
Tangier Disease |
|
Peripheral axonal neuropathy, Hypertriglyceridemia, Facial diplegia, Hypocholesterolemia, Left ve... |
ORPHA:31150 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Decreased urinary potassium, Renal salt... |
ORPHA:95409 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Orthostatic hypotension, Fatigue, Hypoglycemia, Hypercalcemia, ... |
ORPHA:199299 |
D-Glyceric Aciduria |
|
Delayed CNS myelination, Hypoglycemia, Optic nerve hypoplasia, Nonketotic hyperglycinemia, Hypsar... |
OMIM:220120 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise intolerance, Proximal muscle weakness, Stage 5 chronic kidney disease, Lacticac... |
OMIM:618250 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Optic nerve hypoplasi... |
OMIM:222765 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ketonur... |
ORPHA:20 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:85138 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Delayed myelination, ... |
ORPHA:543470 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Poor head control, Hypoglycemia, Optic atrophy... |
OMIM:618329 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Dent Disease 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:300555 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Cerebral atrophy |
OMIM:614116 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Bone pain, Generalized aminoaciduria, Hypercalciuria, Hypophosp... |
OMIM:613388 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Optic disc pallor, Hyperoxaluria, Aciduria, Calcium oxalate nephro... |
ORPHA:416 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Distal muscle weakness, Increased urinary O-linked sialopeptides, A... |
OMIM:609242 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Delayed CNS myelination, Hypoglycemia, Stage 5 chronic kidn... |
OMIM:251000 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Skeletal muscle atrophy, Short humerus, Abnormal mitochondrial shape, Sho... |
ORPHA:17 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Coppe... |
OMIM:614946 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:176270 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochr... |
ORPHA:653 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Pain, Bulbar palsy, Facial palsy, Ophthalmoplegia, Acu... |
ORPHA:79138 |
Yuan-Harel-Lupski Syndrome |
|
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy |
OMIM:616652 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Optic disc pallor, Ketonuria, Lacticaciduria, Left ventricular noncompaction, Left ... |
OMIM:619167 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Myelin ... |
ORPHA:99956 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Fatigue, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, He... |
ORPHA:199296 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Flexion contracture, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... |
OMIM:251880 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Decreased compound muscle action potential amplitude, Small thenar eminence, Di... |
OMIM:620080 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Anhidrosis, Urinary incontinence, Hypohidrosis, Abnormal autonomic nervous system physiology, Abn... |
OMIM:243000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Hy... |
OMIM:615453 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Bone pain, Nephrocalcinosis, Aminoaciduria, L... |
ORPHA:1652 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Myopathy, Hypoa... |
ORPHA:14 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoplasia of penis, Hypoglycemia, Septo-optic dysplasia, Adrenal hy... |
ORPHA:95496 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Abnormal nerve conduction velocity |
ORPHA:93474 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Proteinuria, Hy... |
OMIM:232200 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Renal insuffici... |
ORPHA:90321 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
Aspartylglucosaminuria |
|
Abnormality of amino acid metabolism |
ORPHA:93 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Renal neoplasm, Diabetes mellitus, Hypertriglyceridemia, Abnormal circul... |
ORPHA:79474 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... |
OMIM:219800 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger |
ORPHA:1325 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Bone pain, Stage 5 chronic kidney... |
OMIM:300009 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cerebellar atrophy, Aciduria,... |
OMIM:203700 |
Barth Syndrome |
|
Talipes equinovarus, Skeletal myopathy, Abnormal mitochondrial morphology |
OMIM:302060 |
Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cranial nerve, Sclera... |
ORPHA:252164 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... |
OMIM:619991 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Glucocorticoid Resistance, Generalized |
|
Fatigue, Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, In... |
OMIM:615962 |
Primary Fanconi Renotubular Syndrome |
|
Bone pain, Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricem... |
ORPHA:3337 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci... |
OMIM:620300 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Jaundice, Aminoaciduria, Hepatosplenomegaly |
ORPHA:33574 |
Stt3A-Cdg |
|
Abnormal glycosylation |
ORPHA:370921 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Abnormal glycosylation |
OMIM:617395 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Organic aciduria, Optic atrophy, Limb hypertonia |
ORPHA:99742 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E... |
OMIM:137920 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... |
ORPHA:3464 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Autism, Susceptibility To, 3 |
|
EEG abnormality, Ketonuria, Increased serum serotonin |
OMIM:608049 |
Kaufman Oculocerebrofacial Syndrome |
|
Clinodactyly of the 5th finger, Optic disc pallor, Metatarsus adductus, Hypocholesterolemia |
OMIM:244450 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Biotinidase Deficiency |
|
Hepatomegaly, Diffuse cerebral atrophy, Splenomegaly, Optic atrophy, Hyperammonemia, Organic acid... |
OMIM:253260 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Skeletal muscle atrophy, Optic atrophy, Elevated urine acetoacetic acid level... |
OMIM:620089 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Body odor, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypogonadotropic hypogonadi... |
OMIM:616113 |
Stt3B-Cdg |
|
Abnormal glycosylation |
ORPHA:370924 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Optic disc pallor, Renal in... |
ORPHA:90324 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Abnormal glycosylation |
OMIM:616828 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormal metabolism |
ORPHA:77296 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Bulbar palsy, Poor head control, Hypoglycemia, Elevated circulating creatine kinase concentration... |
OMIM:619055 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Ketonuria, Abnormality of circulating enzyme level, Elevated circulating gluta... |
ORPHA:35706 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Mucopolysacchariduria, Abnormality of peripheral nerve... |
ORPHA:585 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Optic nerve dysplasia, A... |
OMIM:214110 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypercalciuria, Macronodular ci... |
OMIM:557000 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Abnormal glycosylation |
OMIM:615597 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Decreased circulating ceruloplasmin concentration, Decreased circ... |
ORPHA:48818 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Neurotrophic Keratopathy |
|
Diabetes mellitus, Allodynia, Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... |
OMIM:239200 |
Tenorio Syndrome |
|
Hypoinsulinemia, Hypoglycemia, Macroglossia, Enuresis, Cerebral cortical atrophy |
OMIM:616260 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
Proprotein Convertase 1/3 Deficiency |
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Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Dubowitz Syndrome |
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Clinodactyly of the 5th finger, Cryptorchidism, Syndactyly, Hypocholesterolemia |
OMIM:223370 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Calcinosis, Hyponatremia, Delayed CNS myelination, Poor head control, Splenomegaly, Optic atrophy... |
OMIM:617913 |
Hurler Syndrome |
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Hepatomegaly, Camptodactyly of finger, Splenomegaly, Macroglossia, Mucopolysacchariduria, Abnorma... |
ORPHA:93473 |
Smith-Lemli-Opitz Syndrome |
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Cerebellar atrophy, Diffuse cerebral atrophy, Overlapping toe, Micromelia, Proximal placement of ... |
OMIM:270400 |
Choreoacanthocytosis |
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Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath... |
ORPHA:2388 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
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Organic aciduria, Muscle weakness |
OMIM:620191 |
Pancreatic And Cerebellar Agenesis |
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Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Flexion contracture, Hyperglycemia, Panc... |
OMIM:609069 |
Glycogen Storage Disease Ib |
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Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Proteinuria, Sple... |
OMIM:232220 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co... |
OMIM:617156 |
Atelis Syndrome 2 |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Lysinuric Protein Intolerance |
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Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Splenomegaly, Increased circulating ferriti... |
OMIM:222700 |
Biotinidase Deficiency |
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Optic neuropathy, Optic atrophy, Hyperammonemia, Organic aciduria, Limb muscle weakness |
ORPHA:79241 |
Tyrosinemia, Type I |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Hypoglyc... |
OMIM:276700 |
Mucopolysaccharidosis Type 2 |
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Hepatomegaly, Papilledema, Decreased nerve conduction velocity, Splenomegaly, Optic atrophy, Macr... |
ORPHA:580 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Richards-Rundle Syndrome |
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Distal amyotrophy, Ketonuria, Hypergonadotropic hypogonadism |
ORPHA:1399 |
Scorpion Envenomation |
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Pain, Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Elevated circ... |
ORPHA:466677 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Optic atrophy, Cerebral atrophy, Brain atrophy, Abnormal myelination, Limb hypertonia |
ORPHA:442835 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Hepatomegaly, Abnormal CNS myelination, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/... |
ORPHA:99413 |
Turner Syndrome |
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Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/... |
ORPHA:881 |
Mosaic Monosomy X |
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Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/... |
ORPHA:99228 |
Monosomy X |
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Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/... |
ORPHA:99226 |
Methylmalonic Aciduria, Cbla Type |
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Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Me... |
OMIM:251100 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Diffuse cerebral atrophy, Abnormal myelination |
ORPHA:289266 |
Fructose Intolerance, Hereditary |
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Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc... |
OMIM:229600 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Episodic h... |
OMIM:223900 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Fatigue, Adrenal hyperplasia, Hypoglycemia, Precocious puberty,... |
ORPHA:786 |
Bohring-Opitz Syndrome |
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Supernumerary nipple, Delayed peripheral myelination, Flexion contracture, Camptodactyly, Vesicou... |
OMIM:605039 |
Methylmalonyl-Coa Epimerase Deficiency |
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Ketonuria, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Hyper... |
OMIM:251120 |
Glycerol Kinase Deficiency |
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Adrenocortical hypoplasia, Increased urinary glycerol, Hypoglycemia, Hypertriglyceridemia, Hyperg... |
OMIM:307030 |
Slc35A2-Cdg |
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Abnormal glycosylation, Decreased galactosylation of N-linked protein glycosylation, Decreased si... |
ORPHA:356961 |
Argininemia |
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Cerebellar atrophy, Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Diaminoaci... |
OMIM:207800 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Hypospadias, Adrenal hypoplasia... |
OMIM:214100 |
Lambert-Eaton Myasthenic Syndrome |
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Progressive proximal muscle weakness, Xerostomia, Hypohidrosis, Abnormal autonomic nervous system... |
ORPHA:43393 |
Fumarase Deficiency |
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Cerebral atrophy, Mitochondrial swelling, Optic atrophy, Hyperbilirubinemia |
OMIM:606812 |
Holocarboxylase Synthetase Deficiency |
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Organic aciduria, Hyperammonemia |
ORPHA:79242 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
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Skeletal muscle atrophy, Distal lower limb muscle weakness |
OMIM:615025 |
Holocarboxylase Synthetase Deficiency |
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Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, H... |
OMIM:253270 |
Methylmalonic Aciduria, Cblb Type |
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Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly... |
OMIM:251110 |
Infantile Nephropathic Cystinosis |
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Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Leiomyosarcoma, Vesicoureteral reflux, Hep... |
ORPHA:116 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Hypoglycemia, Proteinuria, Chronic pancreatitis, Hyperlipidemi... |
OMIM:232240 |
Argininosuccinic Aciduria |
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Hyperglutaminemia, Hyperammonemia, EEG abnormality, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Talipes equinovarus, Camptodactyly, Abnormal myelination |
OMIM:617333 |
Distal Renal Tubular Acidosis |
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Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weakness, Bone pain, N... |
ORPHA:18 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... |
OMIM:256800 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
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Decreased number of small peripheral myelinated nerve fibers, Anhidrosis |
ORPHA:64752 |
Hypermobile Ehlers-Danlos Syndrome |
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Fatigue, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculatur... |
ORPHA:285 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Multiple joint contractures, Proteinuria, Hypogonadotropic hypogon... |
ORPHA:79318 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy, Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
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Aminoaciduria, Ketonuria, Delayed myelination |
OMIM:614520 |
Argininosuccinic Aciduria |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Fatigue, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased r... |
ORPHA:95494 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx, A... |
ORPHA:280210 |
Citrullinemia, Classic |
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Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... |
OMIM:215700 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Cerebellar atrophy, Optic disc pallor, Abnormal myelination, Facial hypotonia, Limb joint contrac... |
ORPHA:404454 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Hepatitis, Hyperammonemia, Hyperorni... |
ORPHA:415 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Abnormality of vitamin metabolism |
ORPHA:79302 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Elevated circulating C-reactive protein concentration, Flank pain, Renal interstitial edema, Ster... |
ORPHA:91500 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Elevated circulati... |
OMIM:311250 |
D-Lactic Aciduria With Gout |
|
Lacticaciduria |
OMIM:245450 |
Xeroderma Pigmentosum |
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Fatigue, Cryptorchidism, Optic atrophy, EEG abnormality, Aminoaciduria, Arthralgia, Hypogonadism,... |
ORPHA:910 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria |
ORPHA:30 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormal metabolism |
ORPHA:567983 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyperglycinemia, Hyper... |
OMIM:620358 |
Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndrome, Peritonitis, C... |
ORPHA:2968 |
Developmental And Epileptic Encephalopathy 50 |
|
Abnormal glycosylation |
OMIM:616457 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Elevated circulating creatine ki... |
OMIM:309000 |
Monosomy 18Q |
|
Arachnodactyly, Tapered finger, Bilateral cryptorchidism, Talipes equinovarus, Abnormal myelination |
ORPHA:1600 |
Friedreich Ataxia 2 |
|
Diabetic ketoacidosis, Abnormality of peripheral nerve conduction |
OMIM:601992 |
X-Linked Intellectual Disability, Armfield Type |
|
Cryptorchidism, Aminoaciduria, Organic aciduria, Galactosuria, Cerebral cortical atrophy |
ORPHA:85276 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Abnormalit... |
ORPHA:449432 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination |
ORPHA:364577 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Orthostatic hypotension due to autonomic dysfunction, Chronic kidney disease, Hyperhi... |
ORPHA:642 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Cryptorchidism, Short thumb, Preaxial hand polydactyly, Genu valgum, ... |
OMIM:619488 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Deviation of the hallux, Bilateral cryptorchidism, Postaxial hand polydactyly, Dupl... |
ORPHA:434179 |