Gene: Dhtkd1 MGI:2445096

Log in to follow

Gene Summary

Name:
dehydrogenase E1 and transketolase domain containing 1
Synonyms:
C330018I04Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

2 Images

Human diseases caused by Dhtkd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dhtkd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy OMIM:615025

The table below shows human diseases predicted to be associated to Dhtkd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fructosuria, Essential
Impairment of fructose metabolism OMIM:229800
Amyotrophic Lateral Sclerosis 4, Juvenile
Diffuse axonal swelling, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, D... OMIM:602433
Fructose And Galactose Intolerance
Galactose intolerance, Fructose intolerance OMIM:229500
Congenital Disorder Of Glycosylation, Type Icc
Type I transferrin isoform profile OMIM:301031
Hyperinsulinism Due To Glucokinase Deficiency
Muscle weakness, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fatigue, Recurrent hypo... ORPHA:79299
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Mildly elevated creatine kinase, Degeneration of anterior horn cells, Decrea... OMIM:604484
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Proximal amyotrophy, Pelvic girdle muscle weakness, Achille... ORPHA:2596
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
EMG: myopathic abnormalities, Demyelinating sensory neuropathy, Lower limb muscle weakness, Abnor... ORPHA:99939
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... OMIM:606482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:607734
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Abnormal circulating creatine kinase concentr... ORPHA:399058
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Intrinsic hand muscle atrophy, Distal upper lim... ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:118210
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:609260
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Distal muscle... OMIM:611228
Essential Fructosuria
Impairment of fructose metabolism ORPHA:2056
Distal Myopathy With Anterior Tibial Onset
Abnormal circulating creatine kinase concentration, Intrinsic hand muscle atrophy, Weakness of th... ORPHA:178400
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Proximal muscle weakness, D... OMIM:605588
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Fatigue, Myalgia, Cerebral atrophy, Progr... OMIM:609286
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Distal muscle weakness, Hypertrophic nerve changes, On... OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Carpal Tunnel Syndrome
Reduced circulating vitamin B6 level OMIM:115430
Cystinuria
Abnormality of amino acid metabolism ORPHA:214
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Distal upper limb muscle weakness, Motor conduction bl... ORPHA:99953
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Peripheral hypomyel... OMIM:605253
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... OMIM:214400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:118220
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Fatigue, Recurrent hypoglycemia, Abnormal C-pe... ORPHA:263458
Charcot-Marie-Tooth Disease, Type 4H
Small thenar eminence, Small hypothenar eminence, Decreased motor nerve conduction velocity, Peri... OMIM:609311
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Abnormal sensory nerve conduction ve... ORPHA:276435
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Dist... OMIM:618912
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Segmental peripheral demyelination/remyelination, Segmental peripheral demyelination, Distal musc... OMIM:606483
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Lower limb pain, Distal muscle weakness, Distal amyotr... OMIM:600361
Laing Early-Onset Distal Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Mildly ... ORPHA:59135
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal muscle weakness, Decreased motor nerve conduction velocity, Mildly elevated creatine kinas... OMIM:615376
Charcot-Marie-Tooth Disease Type 1B
Muscle weakness, Peripheral dysmyelination, Skeletal muscle hypertrophy, Peripheral axonal neurop... ORPHA:101082
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Proximal muscle weakn... ORPHA:457050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Glucose intolerance, Elevated hepatic transaminase, Impaired glucose tolerance, Myalgia, Progress... OMIM:610131
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Scapular winging, Distal upper limb muscle weakness, Quadriceps muscle weakness, Proximal muscle ... ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Distal muscle weakness, Peripheral axonal neuropathy, ... OMIM:613287
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Axonal dege... OMIM:614436
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, ... ORPHA:370
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Lower limb muscle weakness, W... OMIM:615575
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Fatiguable weakness of proximal limb muscles, Abnormali... ORPHA:90117
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral demyelin... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Distal muscle ... OMIM:618400
Chronic Inflammatory Demyelinating Polyneuropathy
Hand muscle weakness, Fatiguable weakness of proximal limb muscles, Peripheral demyelination, Mot... ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Distal muscle weakness, Distal amyotrophy, Peri... OMIM:608673
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Proximal muscle weakness, Distal muscle weakness, Hand muscle atrophy, ... ORPHA:99944
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Distal Anoctaminopathy
Rhabdomyolysis, Proximal muscle weakness in upper limbs, Progressive muscle weakness, Distal lowe... ORPHA:399096
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Proximal muscle weakness, Distal muscle weakness, Faci... OMIM:601382
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Hand muscle weakness, Intrinsic hand muscle atrophy, D... ORPHA:101077
X-Linked Charcot-Marie-Tooth Disease Type 6
Lower limb muscle weakness, Thenar muscle atrophy, Distal lower limb amyotrophy, Decreased nerve ... ORPHA:352675
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Low levels of vitamin A OMIM:115300
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Foot dorsif... OMIM:302801
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Diaphragmatic paralysis, Spinal muscular atrophy, Axonal degeneration, D... OMIM:604320
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Hand muscle weakness, Decreased number of peripheral m... OMIM:302800
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Shoulder ... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... OMIM:600882
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal muscle weakness, Onion bulb formation, Distal a... OMIM:610100
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Progressive distal muscle weakness, Progressive muscle weakness, Au... OMIM:609452
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Acute rhabdomyolysis, Hypergonadotropic hypogonadism, ... OMIM:604168
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle weakness, Thenar muscle atrophy, Distal l... ORPHA:139536
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Muscle weakness, Hypoglycemic seizures, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic... ORPHA:276580
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Foot dorsif... OMIM:607678
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Motor conduction block, Progressive muscle weakness, Weakness... ORPHA:641
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... OMIM:145900
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Distal muscle weakne... OMIM:607731
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Lower limb pain, Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropat... ORPHA:208981
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal amyotrophy... OMIM:607677
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental peripheral... OMIM:607791
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Mildly elevated creatine kinase, Respiratory insufficiency due to muscle weakness... ORPHA:663
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Distal muscle weakness, Decreased motor nerve conduction velocity, Limb muscle weakness OMIM:614228
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Progressive distal muscle weakness, ... ORPHA:399086
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Scapular winging, Intrinsic hand muscle atrophy, Mildly elevated cr... ORPHA:329478
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Abnormal autonomic nervous system physiology, ... OMIM:252320
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche, Decreased nerve conduction velocity, Joint contractures invol... ORPHA:457205
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Flexion contracture, Decreased number of peripheral my... OMIM:607706
Mitochondrial Dna Depletion Syndrome 18
Lacticaciduria, Proximal muscle weakness, Distal muscle weakness, Hand muscle atrophy, Distal amy... OMIM:618811
Spinocerebellar Ataxia Type 43
Distal upper limb muscle weakness, Pain, Distal lower limb muscle weakness, Peripheral axonal neu... ORPHA:497764
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, ... ORPHA:264580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Charcot-Marie-Tooth Disease, Type 4B3
Brain atrophy, Urinary incontinence, Onion bulb formation, Ophthalmoplegia, Decreased nerve condu... OMIM:615284
Neuronopathy, Distal Hereditary Motor, Type Vb
Distal muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:614751
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Distal amyotrophy, Decreased number of large peri... OMIM:608340
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Progressive distal muscle weakness, Ankle flexion contracture, Weak... ORPHA:399103
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Peripheral hypomyelination, Dista... OMIM:605285
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal muscle weakness, Onion bulb formation, Distal amyotrophy, Optic atrophy, Segmental periphe... OMIM:311070
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Respiratory insufficiency due to muscle weakness, Skel... OMIM:618184
Distal Myotilinopathy
EMG: myopathic abnormalities, Progressive distal muscle weakness, Abnormal muscle fiber myotilin,... ORPHA:98911
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Weakness of the intrinsic hand m... ORPHA:98912
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Pelvic girdle m... ORPHA:254361
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Distal muscle weakness, Distal amyotrophy, Peripheral axonal neuropathy, Decreased nerve conducti... OMIM:608895
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Neuronopathy, Distal Hereditary Motor, Type Vc
Decreased compound muscle action potential amplitude, Distal lower limb amyotrophy, Distal lower ... OMIM:619112
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Dif... ORPHA:276575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Cerebellar atrophy, Distal amyotrophy, Hypoalbuminemia, Peripheral axonal d... OMIM:208920
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Abnormal motor nerve conduction velocity, Knee pain, Hand muscle atrophy, A... ORPHA:100998
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Diaphragmatic paralysis, Skeletal muscle atrophy, Decreased ... ORPHA:868
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Fatigue, Glomerular sclerosis, Elevated circulating creatine kina... OMIM:607426
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Muscle weakness, Decreased nerve conduction velocity, Urinary incontinence, Peripheral demyelinat... OMIM:249900
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Muscle weakness, Increased muscle glycogen content, Acute kidney injury, Postexertional malaise, ... ORPHA:368
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Distal upper limb amyotrophy, Mildly elevated creatine ki... ORPHA:600
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Distal muscle weakness, Distal amyotrophy, Axonal degeneration/regenera... OMIM:607736
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Distal muscle weakness, Distal amyotrophy, Joint contracture of the hand, Peripheral demyelinatio... OMIM:258650
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia OMIM:606528
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Congenital Disorder Of Glycosylation, Type Iw
Abnormal glycosylation OMIM:615596
Charcot-Marie-Tooth Disease, Type 4D
Axonal loss, Distal muscle weakness, Onion bulb formation, Abnormal auditory evoked potentials, D... OMIM:601455
Oculopharyngodistal Myopathy
Abnormality of facial musculature, Distal upper limb muscle weakness, Fatigable weakness of bulba... ORPHA:98897
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness, Myalgia, Elevated circulating creatine kin... OMIM:619024
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal muscle weakness, Distal amyotrophy, Decreased nerve conduction velocity, Foot dorsiflexor ... OMIM:302802
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Distal muscle weakness, Dis... OMIM:606595
Amyotrophy, Hereditary Neuralgic
Muscle weakness, Skeletal muscle atrophy, Peripheral axonal degeneration, Axonal degeneration, Br... OMIM:162100
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Increased urine alpha-ketoglutarate c... ORPHA:35878
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Muscle weakness, Spinal muscular atrophy, Myalgia, Respiratory insufficiency due to muscle weakne... ORPHA:254875
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Dist... ORPHA:99950
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Marinesco-Sjogren Syndrome
Hypergonadotropic hypogonadism, Flexion contracture, Centrally nucleated skeletal muscle fibers, ... OMIM:248800
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Duchenne Muscular Dystrophy
Flexion contracture, Proximal muscle weakness, Progressive muscle weakness, Skeletal muscle atrop... ORPHA:98896
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Flexion contracture, Distal muscle weakness, Facial pa... OMIM:607684
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, P... ORPHA:169186
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Distal muscle weakness, Dista... OMIM:605726
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Axonal loss, Cerebral atrophy, Urinary incontinence, Abnormal upper motor neuron morphol... OMIM:221770
Neuropathy, Hereditary, With Liability To Pressure Palsies
Muscle weakness, Decreased motor nerve conduction velocity, Segmental peripheral demyelination/re... OMIM:162500
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness OMIM:616039
Nemaline Myopathy 5
Proximal amyotrophy, Z-band streaming, Type 1 muscle fiber predominance, Progressive muscle weakn... OMIM:605355
Coenzyme Q10 Deficiency, Primary, 8
Muscle weakness, Elevated circulating creatinine concentration, Flexion contracture, Pain, Abnorm... OMIM:616733
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Hand muscle atrophy, Distal lower limb amyotrophy, Skeletal muscle atrophy,... ORPHA:101085
Combined Oxidative Phosphorylation Deficiency 36
Aciduria, Hypoglycemia OMIM:617950
Bethlem Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Reduced muscle collagen VI, Muscular dystroph... ORPHA:610
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Cirrhosis, Decreased sensory nerve conduction velocity... ORPHA:298
Adrenomyeloneuropathy
Axonal degeneration, Adrenocortical abnormality, Primary adrenal insufficiency, Atrophy of the sp... ORPHA:139399
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:101078
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Congenital muscular dyst... OMIM:601170
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity OMIM:162600
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Progressive distal muscle weakness, Mildly elevated creatine kinase... ORPHA:397744
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Respiratory insufficiency due to muscle weakne... ORPHA:98902
Desminopathy
Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Respiratory insu... ORPHA:98909
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:619386
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Amyotro... OMIM:606070
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Proximal muscle weakness, Distal muscle weakness, Progressive musc... OMIM:608627
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Neck muscle weakness, Diaphragmatic paralysis, Spinal muscular atrophy, Distal upper limb muscle ... ORPHA:466768
Autosomal Recessive Spastic Paraplegia Type 57
Abnormal myelination, Distal lower limb amyotrophy, Abnormality of the Achilles tendon, Abnormali... ORPHA:431329
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Proximal muscle weakness, Elevated circulating creatine kinase concentration, Organic aciduria, M... OMIM:255100
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction, Decreased motor nerve conduction velocity, Intrinsic hand ... ORPHA:3115
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Ketotic hypoglycemia, Hepatic steatosis, Elevate... ORPHA:26792
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Hypertriglyceridemia, ... ORPHA:280356
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Gliosis, Increased hepatocellular lipid droplets, Hypoglycemia,... OMIM:220111
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Poor head control, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:614932
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Flexion contracture, Demyelinating peripheral neuropath... OMIM:618404
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Axonal degeneration OMIM:616155
Monomelic Amyotrophy
Muscle weakness, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells,... ORPHA:65684
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Distal upper limb amyotrophy, Axonal loss, Distal muscle weak... OMIM:614455
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal amyotrophy, Limb muscle... OMIM:118300
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Hypergonadotropic hypogonadism, Rhabdomyolysis, Progressive externa... OMIM:157640
Wild Type Abeta2M Amyloidosis
Macroglossia, Decreased amplitude of sensory action potentials, Axonal loss, Shoulder pain, Pain,... ORPHA:85446
Retinitis Pigmentosa
Hyperinsulinemia, Abnormal testis morphology, Ophthalmoplegia, Type II diabetes mellitus, Hypopla... ORPHA:791
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Distal amyotrophy, Demyelinating sensory neuropathy, Demyelinating motor ne... OMIM:182815
Null Syndrome
Peripheral demyelination, Demyelinating peripheral neuropathy, Decreased nerve conduction velocit... ORPHA:280234
Neutral Lipid Storage Myopathy
Neck muscle weakness, Hand muscle weakness, Pelvic girdle muscle weakness, Shoulder girdle muscle... ORPHA:98908
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Episo... ORPHA:276556
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Ele... ORPHA:263455
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Distal lower limb muscle weakness, Acute demyelinating polyneuropathy ORPHA:98916
Infantile Refsum Disease
Elevated levels of phytanic acid, Hepatomegaly, Progressive muscle weakness, Facial palsy, Optic ... ORPHA:772
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Muscle weakness, Decreased muscle mass, Decreased number of peripheral myelinated nerve fibers, P... OMIM:615490
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Orthostatic hypotension, Gliosis, Axonal loss, Degeneration of anterior ... OMIM:118301
Methionine Adenosyltransferase I/Iii Deficiency
Halitosis, CNS demyelination, Hypermethioninemia, Peripheral demyelination OMIM:250850
Krabbe Disease
Decreased nerve conduction velocity, Neurodegeneration, EEG abnormality, Optic atrophy, Periphera... OMIM:245200
Paraparetic Variant Of Guillain-Barré Syndrome
Pain, Peripheral axonal neuropathy, Sciatica, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosi... ORPHA:42
Optic Atrophy With Demyelinating Disease Of Cns
CNS demyelination, Optic atrophy, Peripheral demyelination OMIM:165200
Ataxia-Deafness-Intellectual Disability Syndrome
Cerebral cortical atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:1188
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Cerebral atrophy, Hepatomegal... ORPHA:363400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Methylmalonic aciduria, Skeletal muscle atrophy, Decreased nerve conduction veloci... ORPHA:1933
Tangier Disease
Decreased HDL cholesterol concentration, Peripheral demyelination, Hepatomegaly, Distal amyotroph... OMIM:205400
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Muscle weakness, Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, Skeletal muscle atrophy... OMIM:615157
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination DECIPHER:59
Tyrosinemia Type 2
Abnormality of amino acid metabolism ORPHA:28378
Spastic Paraplegia 55, Autosomal Recessive
Muscle weakness, Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy OMIM:615035
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Acute rhabdomyolysis, Hypoglycemia, Cerebral cortical atrophy, Motor axo... ORPHA:48431
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Atrophy of the spinal cord, Hypocholesterolemia, Decre... OMIM:256840
Combined Oxidative Phosphorylation Defect Type 13
Muscle weakness, Delayed myelination, Lower limb hypertonia, Type 1 muscle fiber predominance, Ty... ORPHA:319514
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Flexion contracture of finger, Camptodactyly, Recurr... OMIM:609033
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Axonal degeneration, Peripheral axonal degeneration, Decreased number of peripheral myelinated ne... OMIM:608720
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Global brain atrophy, Abnormal lower motor neur... ORPHA:275872
Combined Oxidative Phosphorylation Deficiency 29
Delayed CNS myelination, Decreased activity of mitochondrial complex III, Global brain atrophy, D... OMIM:616811
Combined Oxidative Phosphorylation Defect Type 29
Delayed myelination, Diffuse cerebellar atrophy, Decreased activity of mitochondrial complex III,... ORPHA:478029
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
EMG: myopathic abnormalities, Cerebral atrophy, Aminoaciduria, Respiratory insufficiency due to m... OMIM:609560
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Skeletal muscle atrophy, Peripheral demyelination OMIM:616684
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Multiple joint contractures, Myopathy, Limb-girdle muscl... ORPHA:352470
Spastic Paraplegia Type 7
Lower limb muscle weakness, Lower limb hypertonia, Cerebral cortical atrophy, Cerebellar atrophy,... ORPHA:99013
Riboflavin Deficiency
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Hypoglycemia OMIM:615026
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Distal muscle weakness, S... OMIM:162400
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Pr... OMIM:613561
Combined Oxidative Phosphorylation Defect Type 39
Muscle weakness, Congenital foot contractures, Cryptorchidism, Neonatal hypoglycemia, Corpus call... ORPHA:565624
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis, Glutaric aciduria, Decreased liver function, Skeletal muscle atrophy, Elevated circulati... ORPHA:26791
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Abnormal autonomic nervous ... ORPHA:369873
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Muscle weakness, Camptodactyly of finger, Premature ovarian insufficiency, Decreased nerve conduc... ORPHA:2928
Arts Syndrome
Progressive muscle weakness, Optic atrophy, Spinal cord posterior columns myelin loss OMIM:301835
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction, Lower limb muscle weakness, Frontotemporal cerebral a... ORPHA:101001
Neuromyelitis Optica Spectrum Disorder
Recurrent singultus, Functional abnormality of the bladder, Ocular pain, Peripheral demyelination... ORPHA:71211
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Increased circulating ferritin concentration, Progressive muscle weakness, Generalized limb muscl... OMIM:600462
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia OMIM:606762
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Optic atrophy, Flexion contracture, Peripheral demyelination OMIM:618237
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Axonal loss, Neurodegeneration, Cerebral atrophy, Cerebral cortical atrophy, Cerebellar atrophy, ... OMIM:617672
Mody
Abnormal oral glucose tolerance, Abnormality of the kidney, Hyperinsulinemic hypoglycemia, Glucos... ORPHA:552
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:183050
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Distal lower limb amyotrophy, Distal upper limb amyotrophy ORPHA:101075
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Exocrine ... ORPHA:456312
Neuromuscular Oculoauditory Syndrome
EMG: myopathic abnormalities, Decreased amplitude of sensory action potentials, Multiple renal cy... OMIM:618733
Cednik Syndrome
Optic atrophy, Nephrotic syndrome, Abnormality of peripheral nerve conduction, Hypogonadism, Poor... ORPHA:66631
Sialidosis Type 1
Muscle weakness, Decreased nerve conduction velocity, Aminoaciduria, EEG abnormality, Urinary exc... ORPHA:812
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypohidrosis, Cryptorchidism, Peripheral demyelination, Peripheral hypomyelination, Long-segment ... OMIM:609136
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Flexion c... OMIM:218000
Galloway-Mowat Syndrome 5
Peripheral demyelination, Glomerular sclerosis, Brain atrophy, Stage 5 chronic kidney disease, Ne... OMIM:617731
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Type II... ORPHA:2298
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Muscle weakness, EEG with generalized slow activity, Decreased number of peripheral myelinated ne... ORPHA:2386
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Lacticaciduria, Hyperglycinemia, Cerebral atrophy, Elevated circulating alanine aminotransferase ... OMIM:245400
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Streak ovary, Distal muscle weakness... ORPHA:168563
Triosephosphate Isomerase Deficiency
Muscle weakness, Respiratory insufficiency due to muscle weakness, Cholelithiasis, Jaundice, Prog... OMIM:615512
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Fasting hypoglycemia, Hepatic steatosis, Renal steatosis, Cerebral atrophy... OMIM:261680
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Elevated hepatic trans... OMIM:619355
Neurodegeneration With Brain Iron Accumulation 2A
Gliosis, Cerebral atrophy, Neurodegeneration, Generalized muscle weakness, Cerebellar atrophy, De... OMIM:256600
Spinocerebellar Ataxia 25
Urinary urgency, Facial myokymia, Cerebellar atrophy, Decreased number of peripheral myelinated n... OMIM:608703
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Perlman Syndrome
Cryptorchidism, Hyperinsulinemia, Hepatomegaly, Nephroblastoma, Hypoplasia of penis, Abnormal pan... ORPHA:2849
Wolfram-Like Syndrome
Male hypogonadism, Glucose intolerance, Hypothyroidism, Delayed puberty, Peripheral axonal neurop... ORPHA:411590
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity ORPHA:98890
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul... OMIM:619048
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Cerebellar ... ORPHA:3085
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia OMIM:616033
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb muscle weakness, Urinary incontinence,... ORPHA:206448
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Increased level of galact... ORPHA:79237
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Gowers sign OMIM:612718
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Hypoglycemia, Ins... OMIM:262190
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Hyperuricemia, Insulin-resista... OMIM:604367
Brown-Vialetto-Van Laere Syndrome 2
Neck muscle weakness, Limb muscle weakness, Facial palsy, Generalized amyotrophy, Organic aciduri... OMIM:614707
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria, Increased serum pyruvate, Hypoglycemia OMIM:614741
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:66628
X-Linked Charcot-Marie-Tooth Disease Type 5
Muscle weakness, Abnormal nerve conduction velocity, Optic atrophy, Skeletal muscle hypertrophy ORPHA:99014
Neuronal Intranuclear Inclusion Disease
Muscle weakness, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction ve... OMIM:603472
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation OMIM:618279
Molybdenum Cofactor Deficiency, Complementation Group A
Decreased urinary urate, Xanthinuria, Gliosis, Increased urinary thiosulfate, Increased urinary t... OMIM:252150
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Macroglossia, Hyperinsulinemia, Insulin resistance, Hepatic stea... ORPHA:528
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Peroneal ... OMIM:270550
Friedreich Ataxia
Muscle weakness, Urinary bladder sphincter dysfunction, Decreased motor nerve conduction velocity... ORPHA:95
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Orthostatic hypotension due to autonomic dysfunction, Hyperinsulinemia, H... ORPHA:179494
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Distal amyotrophy, Abnormal... ORPHA:139578
Parkinsonism With Polyneuropathy
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... OMIM:619279
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination, Glutaric aciduria, Elevate... OMIM:231670
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Macroglossia, Hypothyroidism, Abnormalit... ORPHA:99886
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Abnormal mitochondrial morphology OMIM:618528
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity ORPHA:1368
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Cho... OMIM:246200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Muscle weakness, Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periport... OMIM:201475
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Hypohidrosis, Abnormal nerve conduction velocity, Muscular dystrophy, Ap... ORPHA:2926
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Cerebral atrophy, Cerebellar atrophy, Distal amyotrophy, Peripheral axonal ... OMIM:607250
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Facial myokymia, Urinary urgency, Decreased number of large periphera... ORPHA:101111
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology OMIM:618378
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Muscular ... OMIM:613327
East Syndrome
Peripheral hypomyelination, Lower limb muscle weakness, Enuresis, Hyperaldosteronism, Increased c... ORPHA:199343
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Cholecystitis, Gallbladder dysfunction, Urinary incontinence... OMIM:250100
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepati... OMIM:256810
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Orthostatic hypotension due to autonomic dysfunction, Symmetric peripheral demyel... OMIM:169500
Leukodystrophy, Hypomyelinating, 2
Leukodystrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Sensory axonal neuro... OMIM:608804
Trigeminal Neuralgia
Mandibular pain, Trigeminal neuralgia, Cranial nerve compression, Allodynia, Ocular pain, Periphe... ORPHA:221091
Spinocerebellar Ataxia 1
Muscle weakness, Urinary bladder sphincter dysfunction, Decreased motor nerve conduction velocity... OMIM:164400
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Hyperglycinemia, Increased mitochondrial number OMIM:619063
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Abnormal circulating lipid co... ORPHA:79086
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration ORPHA:6
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Optic atrophy, Abnormal mitochondrial morphology OMIM:300438
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Urinary bladder sphincter dysfunction, Lower li... OMIM:604360
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic acidemia, Hypoglycemia, Methylmalonic aciduria, Methy... ORPHA:289504
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hyperammonemia, Hypoglycemia ORPHA:35
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid... OMIM:246450
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Hyperornithinemia, Hepatomegaly, Cerebral cortical atrophy, Decreased liver func... OMIM:238970
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Cryptorchidism, Macroglossia, Diastasis recti, Global brain atrophy, Hypothyr... ORPHA:488632
Autosomal Recessive Spastic Paraplegia Type 67
Abnormal myelination, Generalized amyotrophy, Cerebral cortical atrophy ORPHA:401820
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperammonemia, Cerebral atrophy, Atrophy of the spinal cord, Hypoglycemia, Severe demyelination ... ORPHA:79282
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Enlarged peripheral nerve, Hyperinsulinemia, Hepatic steatosis, Skeletal mu... OMIM:151660
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Proximal muscle weakness, Distal muscle weakness, Dist... OMIM:601152
Autosomal Recessive Spastic Paraplegia Type 35
Neck muscle weakness, Pollakisuria, Corpus callosum atrophy, Enuresis nocturna, Pontocerebellar a... ORPHA:171629
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Glycogen Storage Disease Iii
Muscle weakness, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic fibrosis, Dis... OMIM:232400
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Decrease... OMIM:615368
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Abnormality of amino acid metabolism ORPHA:220295
Multiple Endocrine Neoplasia Type 4
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:276152
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Peroxisome Biogenesis Disorder 11B
Muscle weakness, Progressive muscle weakness OMIM:614885
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Decreased activity of mitochondrial complex III, Fiber type grouping,... OMIM:500013
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Myopathy, Hypoglycemia ORPHA:366
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Hyperinsulinemia, Orthostatic hypotension, Insulin resistance, Increas... ORPHA:230
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:618356
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Hypocholesterolemia, Decreased LDL choles... OMIM:618156
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Flexion contracture of finger, Camptodactyly, Abnormal sensory nerve conduction velocity, Bowel i... ORPHA:88628
Congenital Fiber-Type Disproportion Myopathy
Pelvic girdle muscle weakness, Generalized muscle weakness, Shoulder girdle muscle weakness, Elbo... ORPHA:2020
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentratio... ORPHA:79159
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Muscle weakness, Hyperammonemia, Elevated hepatic transaminase, Premature pubarche, Hypothyroidis... OMIM:616878
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Facial hypotonia, Lower limb muscle weakness, Generalized muscle we... ORPHA:365
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Temporal optic disc pallor, Fatigue, Progressive external ophthalmop... ORPHA:1215
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthinuria, Gliosis, Xanthine nephrolithiasis, Increased urinary taurine, Increased urinary hypo... OMIM:252160
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
External ophthalmoplegia, Flexion contracture, Progressive external ophthalmoplegia, Facial palsy... OMIM:201470
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hyperlipidemia, Hepatomegaly, ... OMIM:232700
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Abnormality of masticatory muscle, Cerebellar atrophy, Skelet... ORPHA:98755
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Hypergonadotropic hypogonadism, Decreased number of peripheral myelinated nerve fibers OMIM:607080
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Achilles tendon contracture, Cerebellar atrophy, Distal amyotrophy, Decreased nerve conduction ve... OMIM:612674
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Low levels of vitamin E, Abnormality of amino acid metabolism ORPHA:309854
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, EMG: myopathic abnormalities, Hyperammonemia, Elevated hepatic transa... ORPHA:99901
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Cerebellar atrophy, Generalized amyotrophy, Elevated circulating creati... ORPHA:352447
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Sensory axonal ne... OMIM:256850
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, External ... OMIM:619026
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Abnormal localization of kidney, Prol... ORPHA:446
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Abnormality of the kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Po... ORPHA:369
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepati... OMIM:602579
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Cerebrotendinous Xanthomatosis
Gliosis, Global brain atrophy, Hypothyroidism, Abnormal motor evoked potentials, Hypermyelinated ... ORPHA:909
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Decreased motor nerve conduction velocity, Optic atrophy, Skeletal muscle atrophy OMIM:615419
Leukodystrophy, Hypomyelinating, 5
Leukodystrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, Onion bulb... OMIM:610532
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria OMIM:613657
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, EMG: myopathic abnorm... ORPHA:98907
Autosomal Recessive Spastic Paraplegia Type 55
Arthrogryposis multiplex congenita, Decreased sensory nerve conduction velocity, Lower limb muscl... ORPHA:320375
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Muscle weakness, Red-brown urine, Decreased plasma total carnitine, Elevated hepatic transaminase... ORPHA:228305
Leigh Syndrome
Gliosis, Hypsarrhythmia, Skeletal muscle atrophy, Muscle weakness, Complex organic aciduria, Sens... ORPHA:506
Diabetes Mellitus, Permanent Neonatal, 3
Muscle weakness, Ketonuria, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitu... OMIM:618857
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Progressive proximal muscle weakness OMIM:300076
Cystinosis
Muscle weakness, Hypophosphatemia, Renal insufficiency, Nephrogenic diabetes insipidus, Hypothyro... ORPHA:213
Steinert Myotonic Dystrophy
Neck muscle weakness, Hypercholesterolemia, Male hypogonadism, Pelvic girdle muscle weakness, Sho... ORPHA:273
Barth Syndrome
Skeletal myopathy, Abnormal mitochondrial morphology OMIM:302060
Alstrom Syndrome
Renal insufficiency, Hyperinsulinemia, Multinodular goiter, Chronic active hepatitis, Hypergonado... OMIM:203800
X-Linked Charcot-Marie-Tooth Disease Type 2
Tibialis atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Intrinsic hand... ORPHA:101076
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Muscle weakness, Rhabdomyolysis, Hypoglycemia, Elevated circulating creatine kinase concentration... OMIM:618120
Ataxia-Pancytopenia Syndrome
Cerebellar atrophy, Decreased nerve conduction velocity OMIM:159550
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Multiple jo... ORPHA:320406
Carnitine Deficiency, Systemic Primary
Muscle weakness, Decreased plasma carnitine, Hyperammonemia, Elevated hepatic transaminase, Reduc... OMIM:212140
Spinocerebellar Ataxia 10
Urinary incontinence, Urinary urgency, Cerebellar atrophy, Decreased nerve conduction velocity OMIM:603516
Carnitine-Acylcarnitine Translocase Deficiency
Muscle weakness, Fasting hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase,... ORPHA:159
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Episodic hyperhidrosis, Decreased number of peripher... OMIM:201300
D-Bifunctional Protein Deficiency
Decreased muscle mass, Corpus callosum atrophy, Elevated hepatic transaminase, Increased circulat... OMIM:261515
Carnitine-Acylcarnitine Translocase Deficiency
Muscle weakness, Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Rhabdom... OMIM:212138
Fanconi Renotubular Syndrome 1
Muscle weakness, Hypophosphatemia, Lacticaciduria, Aminoaciduria, Glycosuria, Hypokalemia, Renal ... OMIM:134600
Galactose Epimerase Deficiency
Impairment of galactose metabolism ORPHA:79238
Classic Homocystinuria
Abnormality of amino acid metabolism ORPHA:394
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Type II diabetes mellitus, Hypoplasia of ... ORPHA:181393
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Nephrocalcinosis, Macroglossia, Long penis, Insulin resistance, Enlarged ov... ORPHA:769
Cockayne Syndrome
Neurogenic bladder, Cryptorchidism, Gliosis, Hyperuricemia, Delayed puberty, Skeletal muscle atro... ORPHA:191
Lethal Ataxia With Deafness And Optic Atrophy
Neck muscle weakness, Muscle weakness, Decreased motor nerve conduction velocity, EEG with focal ... ORPHA:1187
Mitochondrial Dna-Associated Leigh Syndrome
Muscle weakness, Abnormal renal tubule morphology, Lacticaciduria, Low plasma citrulline, Segment... ORPHA:255210
Multiple Carboxylase Deficiency
Spinal cord posterior columns myelin loss, Organic aciduria, Hyperammonemia, Optic atrophy, Limb ... ORPHA:148
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction, Lower limb pain, Upper limb pain, Neck pain ORPHA:101005
Ataxia-Telangiectasia-Like Disorder 2
Muscle weakness, Flexion contracture, Neurodegeneration, Progressive muscle weakness, Cerebellar ... OMIM:615919
X-Linked Sideroblastic Anemia
Muscle weakness, Glucose intolerance, Elevated hepatic transaminase, Abnormality of iron homeosta... ORPHA:75563
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Abnormal myelination, Cerebellar atrophy, Flexion contracture, Optic atrophy OMIM:618324
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Breast hypoplasi... ORPHA:785
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Multiple Acyl-Coa Dehydrogenase Deficiency
Muscle weakness, Renal cortical cysts, Gliosis, Glutaric aciduria, Hepatic steatosis, Proximal tu... OMIM:231680
Potocki-Lupski Syndrome
Delayed myelination, Hypocholesterolemia OMIM:610883
Mandibuloacral Dysplasia
Hypercholesterolemia, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Insulin-resistan... ORPHA:2457
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal renal morphology, Decreased number of peripheral myelinated nerve fibers, Distal muscle ... ORPHA:477817
Multiple Sulfatase Deficiency
Peripheral demyelination, Mucopolysacchariduria, Cerebral atrophy, Hepatomegaly, Cerebellar atrop... OMIM:272200
Autosomal Recessive Spastic Paraplegia Type 69
Abnormal myelination, Cerebral cortical atrophy ORPHA:401830
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Hyposthenuria, Low-molecular-weight proteinuria, Focal segmen... OMIM:308990
Stimmler Syndrome
Aminoaciduria, Type II diabetes mellitus ORPHA:3199
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Fatigable weakness of swallowing muscles, Hyperphosphaturia, Proteinuria, Skeletal muscle steatos... ORPHA:436271
Poliomyelitis
Muscle weakness, Impairment of activities of daily living, Arthralgia, Fatigable weakness of resp... ORPHA:2912
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Oculomotor nerve palsy, Intercostal muscle weakness, Distal muscl... OMIM:606071
Galactose Mutarotase Deficiency
Impairment of galactose metabolism ORPHA:570422
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemic seizures, EMG: myopathic abnormalities, Hyperammonemia, ... ORPHA:480864
Metachromatic Leukodystrophy, Late Infantile Form
Muscle weakness, Leukodystrophy, Decreased nerve conduction velocity, Urinary incontinence, Chole... ORPHA:309256
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia, Tendon xant... OMIM:603813
Metachromatic Leukodystrophy, Juvenile Form
Muscle weakness, Leukodystrophy, Decreased nerve conduction velocity, Urinary incontinence, Chole... ORPHA:309263
Charcot-Marie-Tooth Disease Type 1E
Hand muscle weakness, Peroneal muscle atrophy, Demyelinating peripheral neuropathy, Peroneal musc... ORPHA:90658
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Abnormal glycosylation OMIM:611588
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Op... OMIM:229300
Glycerol Kinase Deficiency
Cryptorchidism, Adrenocortical hypoplasia, Muscular dystrophy, Hypoglycemia, Adrenal insufficienc... OMIM:307030
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Abnormality of the mitochondrion, Myopathy, Cyanosis ORPHA:91130
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination, Cerebral atrophy, Brain atrophy ORPHA:85179
Congenital Disorder Of Glycosylation, Type It
Muscle weakness, Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Rhab... OMIM:614921
Congenital Disorder Of Glycosylation, Type Iiq
Abnormal glycosylation OMIM:617395
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Infantile Krabbe Disease
Neck muscle weakness, Muscle weakness, Prolonged brainstem auditory evoked potentials, Shoulder g... ORPHA:206436
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Muscle weakness, External ophthalmoplegia, Hypsarrhythmia, Cerebellar atrophy, EEG abnormality, D... ORPHA:485421
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Cerebral atrophy, Myopathy, Myalgia, Progressive proximal muscle ... ORPHA:369847
3-Methylglutaconic Aciduria, Type V
Muscle weakness, Cryptorchidism, Microvesicular hepatic steatosis, Glutaric aciduria, 3-Methylglu... OMIM:610198
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia OMIM:266510
Chylomicron Retention Disease
EMG: myopathic abnormalities, Myopathy, Steatorrhea, Hypocholesterolemia ORPHA:71
Fanconi-Bickel Syndrome
Hypophosphatemia, Fasting hypoglycemia, Nephrocalcinosis, Hyperphosphaturia, Generalized aminoaci... ORPHA:2088
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Hyperphosphaturia, Increased hepatocellular lipid drop... OMIM:220110
Japanese Encephalitis
Decreased motor nerve conduction velocity, Distal upper limb muscle weakness, Abdominal pain, Fat... ORPHA:79139
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypocalciuria, Renal potassium wasting, Peripheral hypomyelination, Chronic axonal neuropathy, Po... OMIM:612780
Warburg Micro Syndrome 4
Cryptorchidism, Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contrac... OMIM:615663
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Sudden cardiac death, Renal tubular ac... ORPHA:156
Cockayne Syndrome A
Muscle weakness, Peripheral dysmyelination, Cryptorchidism, Thymic hormone decreased, Micropenis,... OMIM:216400
Metachromatic Leukodystrophy, Adult Form
Muscle weakness, Leukodystrophy, Orthostatic hypotension due to autonomic dysfunction, Cholecysti... ORPHA:309271
Chediak-Higashi Syndrome
Muscle weakness, Neurodegeneration, Hepatomegaly, Jaundice, Splenomegaly, Decreased nerve conduct... OMIM:214500
Combined Oxidative Phosphorylation Defect Type 7
Lower limb muscle weakness, Decreased number of peripheral myelinated nerve fibers, Distal amyotr... ORPHA:254930
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Splenomegaly ORPHA:93476
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Pontocerebellar atrophy, Chronic axonal neuropathy, El... OMIM:606002
Abetalipoproteinemia
CNS demyelination, Abetalipoproteinemia, Peripheral demyelination OMIM:200100
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Aminoaciduria, Hepatomegaly, Abnormality of ... ORPHA:417
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Cholestasi... OMIM:603358
Dicarboxylic Aminoaciduria
Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
L-2-Hydroxyglutaric Aciduria
Corpus callosum atrophy, Gliosis, Global brain atrophy, L-2-hydroxyglutaric aciduria, Severe demy... OMIM:236792
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hypoglycemia, Cholest... OMIM:617156
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion, Cerebellar atrophy, Skeletal muscle atrophy, Optic atrophy, Dif... ORPHA:330050
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Keto... ORPHA:2089
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Limb-girdle muscular dystrophy, Hypocholesterolemia, Decreased LDL choleste... ORPHA:96180
Charcot-Marie-Tooth Disease Type 4C
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropath... ORPHA:99949
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Pyruvate Carboxylase Deficiency
Leukodystrophy, Increased serum pyruvate, Hypoglycemia, Hepatomegaly, Proximal renal tubular acid... OMIM:266150
Solitary Fibrous Tumor/Hemangiopericytoma
Night sweats, Low back pain, Fatigue, Hypophosphatemic rickets, Abnormality of the peritoneum, Ne... ORPHA:2126
Pyruvate Dehydrogenase Phosphatase Deficiency
Lacticaciduria, Hyperalaninemia, Hyperprolinemia ORPHA:79246
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Flexion contracture, Insulin-resistant diabetes mel... OMIM:248370
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Renal tubular dysfunction, Contractures of the joints of the ... ORPHA:99885
Dystonia-Aphonia Syndrome
Macroglossia, Cerebral atrophy, Cerebellar atrophy, Abnormal mitochondrial shape, Mixed demyelina... ORPHA:412217
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Organic aciduria, Respiratory insufficiency due to muscle weakness OMIM:617184
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Long penis, Recurrent infantile hypoglycemia, Insulin res... ORPHA:508
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Increased circ... ORPHA:139507
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia, Hyperglycinuria, Acute hyperammonemia, Skeletal muscle atrophy, Organic aciduria, K... OMIM:210210
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Brain atrophy, Cerebellar atrophy, Hyperammonemia, Optic atrophy, 3-Methylglutaconi... OMIM:614739
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Cerebellar atrophy, Decreased liver function, Hypera... OMIM:618329
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Peripheral axonal neuropathy, Hypocholesterolemia OMIM:618810
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Muscle weakness, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Cerebral atroph... OMIM:124000
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Torticollis, Distal amyotrophy, Cerebellar atrophy, Peripheral demyelination ORPHA:397946
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transami... OMIM:203700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes ... OMIM:616026
Pyruvate Carboxylase Deficiency
Lacticaciduria, Hyperammonemia, Delayed myelination, Basal ganglia gliosis, Hyperglycemia, Hypern... ORPHA:3008
Metachromatic Leukodystrophy
Muscle weakness, Hemobilia, Decreased nerve conduction velocity, Pain, Urinary incontinence, Bowe... ORPHA:512
Hsd10 Disease, Infantile Type
Cerebral atrophy, Neurodegeneration, Hypoglycemia, Frontotemporal cerebral atrophy, Abnormal conc... ORPHA:391428
Cockayne Syndrome B
Muscle weakness, Peripheral dysmyelination, Cryptorchidism, Micropenis, Cerebral atrophy, Patchy ... OMIM:133540
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased plasma carnitine, Leukodystrophy, Abnormal circulating carnitine concentration, Hyperly... ORPHA:431361
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia ORPHA:664
Infantile Neuroaxonal Dystrophy
Diffuse axonal swelling, Flexion contracture, Abnormal autonomic nervous system physiology, Cereb... ORPHA:35069
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:608594
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hypoketotic hypoglycemia, Dicarboxylic aciduria, Myoglo... OMIM:231530
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Adrenal insufficiency, Decreased liver function, Decreased nerve conduction velocit... OMIM:614863
Combined Oxidative Phosphorylation Deficiency 14
Gliosis, Cerebral atrophy, Aminoaciduria, Cerebellar atrophy, EEG abnormality, Atrophy/Degenerati... OMIM:614946
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Albuminuria, Hypergonadotropic hypog... OMIM:230400
Chédiak-Higashi Syndrome
Muscle weakness, Increased circulating ferritin concentration, Hypoproteinemia, Elevated hepatic ... ORPHA:167
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Optic atrophy, Aminoaciduria, Diabetes mellitus OMIM:249270
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Cerebral atrophy, Aminoaciduria, Respiratory insufficiency due to muscle weakness, Methylmalonic ... OMIM:612073
Amish Lethal Microcephaly
Hepatomegaly, Organic aciduria, Limb hypertonia, Optic atrophy ORPHA:99742
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Hyperinsulinemia, Elevated hepatic transaminase, Hepatic steat... OMIM:269700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Hyperammonemia, Decreased plasma total carnitine, Elevated hepatic tra... OMIM:608836
Pearson Marrow-Pancreas Syndrome
Complex organic aciduria, 3-Methylglutaric aciduria, Pa