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Gene: Dhtkd1 MGI:2445096

Gene Summary

Name:

dehydrogenase E1 and transketolase domain containing 1

Synonyms:

C330018I04Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

No results meet the p-value threshold

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Eye Morphology

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

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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.

Human diseases associated with Dhtkd1 (2 diseases)
Human diseases predicted to be associated with Dhtkd1 (723 diseases)

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, 2-hydroxyadipic aciduria	OMIM:204750
Charcot-Marie-Tooth Disease, Axonal, Type 2Q		Skeletal muscle atrophy, Distal lower limb muscle weakness	OMIM:615025

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

Disease	Matching phenotypes	Source
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	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Dubowitz Syndrome	Clinodactyly of the 5th finger, Cryptorchidism, Syndactyly, Hypocholesterolemia	OMIM:223370
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hyponatremia, Delayed CNS myelination, Poor head control, Splenomegaly, Optic atrophy...	OMIM:617913
Hurler Syndrome	Hepatomegaly, Camptodactyly of finger, Splenomegaly, Macroglossia, Mucopolysacchariduria, Abnorma...	ORPHA:93473
Smith-Lemli-Opitz Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Overlapping toe, Micromelia, Proximal placement of ...	OMIM:270400
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath...	ORPHA:2388
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Organic aciduria, Muscle weakness	OMIM:620191
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Flexion contracture, Hyperglycemia, Panc...	OMIM:609069
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Proteinuria, Sple...	OMIM:232220
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co...	OMIM:617156
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Splenomegaly, Increased circulating ferriti...	OMIM:222700
Biotinidase Deficiency	Optic neuropathy, Optic atrophy, Hyperammonemia, Organic aciduria, Limb muscle weakness	ORPHA:79241
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Hypoglyc...	OMIM:276700
Mucopolysaccharidosis Type 2	Hepatomegaly, Papilledema, Decreased nerve conduction velocity, Splenomegaly, Optic atrophy, Macr...	ORPHA:580
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Richards-Rundle Syndrome	Distal amyotrophy, Ketonuria, Hypergonadotropic hypogonadism	ORPHA:1399
Scorpion Envenomation	Pain, Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Elevated circ...	ORPHA:466677
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali...	ORPHA:64
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Cerebral atrophy, Brain atrophy, Abnormal myelination, Limb hypertonia	ORPHA:442835
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Abnormal CNS myelination, Ketonuria, Renal hypoplasia	OMIM:619053
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Renal hypoplasia/...	ORPHA:99226
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Me...	OMIM:251100
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Abnormal myelination	ORPHA:289266
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc...	OMIM:229600
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Episodic h...	OMIM:223900
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Fatigue, Adrenal hyperplasia, Hypoglycemia, Precocious puberty,...	ORPHA:786
Bohring-Opitz Syndrome	Supernumerary nipple, Delayed peripheral myelination, Flexion contracture, Camptodactyly, Vesicou...	OMIM:605039
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic aciduria, Hyper...	OMIM:251120
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Hypoglycemia, Hypertriglyceridemia, Hyperg...	OMIM:307030
Slc35A2-Cdg	Abnormal glycosylation, Decreased galactosylation of N-linked protein glycosylation, Decreased si...	ORPHA:356961
Argininemia	Cerebellar atrophy, Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Diaminoaci...	OMIM:207800
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Hypospadias, Adrenal hypoplasia...	OMIM:214100
Lambert-Eaton Myasthenic Syndrome	Progressive proximal muscle weakness, Xerostomia, Hypohidrosis, Abnormal autonomic nervous system...	ORPHA:43393
Fumarase Deficiency	Cerebral atrophy, Mitochondrial swelling, Optic atrophy, Hyperbilirubinemia	OMIM:606812
Holocarboxylase Synthetase Deficiency	Organic aciduria, Hyperammonemia	ORPHA:79242
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Skeletal muscle atrophy, Distal lower limb muscle weakness	OMIM:615025
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, H...	OMIM:253270
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly...	OMIM:251110
Infantile Nephropathic Cystinosis	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	Hyperglutaminemia, Hyperammonemia, EEG abnormality, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Talipes equinovarus, Camptodactyly, Abnormal myelination	OMIM:617333
Distal Renal Tubular Acidosis	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	Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat...	OMIM:256800
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers, Anhidrosis	ORPHA:64752
Hypermobile Ehlers-Danlos Syndrome	Fatigue, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculatur...	ORPHA:285
Pmm2-Cdg	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	Aminoaciduria, Ketonuria, Delayed myelination	OMIM:614520
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Combined Pituitary Hormone Deficiencies, Genetic Forms	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	Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat...	OMIM:215700
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Optic disc pallor, Abnormal myelination, Facial hypotonia, Limb joint contrac...	ORPHA:404454
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	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	Abnormality of vitamin metabolism	ORPHA:79302
Tubulointerstitial Nephritis And Uveitis Syndrome	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	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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dhtkd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dhtkd1.

No publications found that use IMPC mice or data for Dhtkd1.

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MGI Allele	Allele Type	Produced
Dhtkd1^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dhtkd1 MGI:2445096

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

X-ray

X-ray

Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Dhtkd1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data