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Gene: Serac1 MGI:2447813

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Gene Summary

Name:
serine active site containing 1
Synonyms:
4930511N22Rik,  D17Ertd141e

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Serac1em1(IMPC)Tcp HOM Early adult 8.15×10-05
enhanced contextual conditioning behavior Serac1em1(IMPC)Tcp HOM Early adult 1.56×10-05
increased freezing behavior Serac1em1(IMPC)Tcp HOM Early adult 1.84×10-06
decreased vertical activity Serac1em1(IMPC)Tcp HOM   Early adult 4.67×10-06
enlarged lymph nodes Serac1em1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Serac1em1(IMPC)Tcp HOM Early adult 3.49×10-10
decreased locomotor activity Serac1em1(IMPC)Tcp HOM   Early adult 7.09×10-06
abnormal freezing behavior Serac1em1(IMPC)Tcp HOM   Early adult 5.15×10-05
abnormal ovary morphology Serac1em1(IMPC)Tcp HOM Early adult 0.00
increased total body fat amount Serac1em1(IMPC)Tcp HOM Early adult 9.06×10-05

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

84 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Serac1 mutations

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

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

The table below shows human diseases associated to Serac1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
3-Methylglutaconic aciduria, Sensorineural hearing impairment, Optic atrophy, Hypoglycemia, Hyper... OMIM:614739

The table below shows human diseases predicted to be associated to Serac1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carnitine Deficiency, Systemic Primary
Proximal muscle weakness, Decreased plasma carnitine, Dicarboxylic aciduria, Decreased carnitine ... OMIM:212140
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Neck flexor weakness, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,... ORPHA:457050
Gne Myopathy
Muscle fiber inclusion bodies, Shoulder girdle muscle atrophy, Scapular winging, Lower limb amyot... ORPHA:602
Neutral Lipid Storage Disease With Myopathy
Sensorineural hearing impairment, Proximal muscle weakness, Gowers sign, Elevated hepatic transam... OMIM:610717
Severe Primary Trimethylaminuria
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity ORPHA:468726
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, EEG abnormality, Elevated hepatic transaminase, Dicarboxylic acid... OMIM:619355
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation, Decreased activity of mit... OMIM:616500
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Cardiomyopathy, Distal upper limb muscle weakness, Fatiguable weakness of proximal limb muscles, ... ORPHA:63273
Myopathy, Myofibrillar, 3
Proximal muscle weakness, Achilles tendon contracture, Progressive distal muscle weakness, Elevat... OMIM:609200
Mitochondrial Complex I Deficiency, Nuclear Type 11
Decreased activity of mitochondrial complex I, Wolff-Parkinson-White syndrome, Congestive heart f... OMIM:618234
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia, Ventricular hypertrophy, Cardiomyopathy, Hepatic failure, Elevated circ... ORPHA:228305
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Optic atrophy, Hypertrophic cardiomyopathy, Hearing impairment, Myopathy, De... OMIM:618237
Combined Oxidative Phosphorylation Deficiency 38
Hyperalaninemia, Decreased activity of mitochondrial ATP synthase complex, Wolff-Parkinson-White ... OMIM:618378
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Hyperglycinemia, Hypertaurinemia, El... OMIM:245400
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Cerebellar hemorrhage, Generalized muscle weakness, Elevated circulating ac... ORPHA:99901
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Rhabdomyolysis, Decreased activity of mitochondrial ATP synthase com... OMIM:618120
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype... OMIM:619386
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Optic atr... ORPHA:26792
Myopathy, Distal, 7, Adult-Onset, X-Linked
Distal upper limb muscle weakness, Myofiber disarray, Increased variability in muscle fiber diame... OMIM:301075
Systemic Primary Carnitine Deficiency
Acute encephalopathy, Elevated hepatic transaminase, Muscle weakness, Hepatomegaly, Neck muscle w... ORPHA:158
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Proximal muscle weakness, Decreased plasma carn... ORPHA:26791
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Proximal muscle weakness, Ele... OMIM:255100
Alpha-B Crystallin-Related Late-Onset Myopathy
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:399058
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Cardiomyocyte hypertrophy, Palpitations, Decreased muscle glycogen conte... ORPHA:263297
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy, Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy, Decreased activi... OMIM:618236
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Decreased activity of mitochondrial complex III, Hypertrophic cardiomyopathy, Decreased activity ... OMIM:617184
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Ventricular septal defect, Portal in... OMIM:613759
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ophthalmoplegia, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Progressive sensor... OMIM:540000
Myopathy, Distal, 4
Proximal muscle weakness, Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of th... OMIM:614065
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiom... OMIM:611126
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... OMIM:618528
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Limb-girdle muscle weakness, Generalized muscle weakness, Wrist drop, Weakness of long finger ext... ORPHA:98912
Barth Syndrome
Abnormal mitochondrial morphology, Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Distal Myopathy, Welander Type
Distal upper limb muscle weakness, Weakness of long finger extensor muscles, EMG: myopathic abnor... ORPHA:603
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Generalized muscle weakness, Reduced left ventric... OMIM:614096
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Generalized amyotrophy, Gowers sign, Decreased activity of mitochondrial ATP synth... OMIM:609560
Carnitine-Acylcarnitine Translocase Deficiency
Hypoketotic hypoglycemia, Hypotension, Hepatic failure, Elevated circulating acylcarnitine concen... ORPHA:159
3-Methylglutaconic Aciduria Type 9
Urinary incontinence, 3-Methylglutaconic aciduria, Optic atrophy, EEG abnormality, Decreased acti... ORPHA:505216
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscle fiber atrophy, O... OMIM:618654
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Creutzfeldt-Jakob Disease
Gait ataxia, Apathy, Dementia, Depression, Anxiety, Irritability, Memory impairment OMIM:123400
Hsd10 Mitochondrial Disease
Sensorineural hearing impairment, Optic atrophy, Elevated circulating tiglylglycine concentration... OMIM:300438
Mitochondrial Complex I Deficiency, Nuclear Type 7
Encephalopathy, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex I, Optic... OMIM:618229
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepati... OMIM:231530
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Sensorineural hearing impairment, Ophthalmoparesis, Dilated cardiomyopathy, Progressive external ... ORPHA:1349
Huntington Disease-Like 2
Inertia, Weight loss, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, ... OMIM:606438
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hyperglycinemia, Optic atrophy, Decreased activity of mitochondrial respiratory chain, Dilated ca... OMIM:614299
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Hyperalaninemia, Congestive heart failure, Decreased activity of... OMIM:616045
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Neck flexor weakness, Fatty replacement of skeletal mus... ORPHA:399103
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Hypertrophic cardiomyopathy, Encephalopathy, Cardiomyopathy OMIM:615119
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Hypoglycemia, Increased serum pyruvat... OMIM:246900
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Elevated circulating alanine aminotransferase concentration, Ophthalmoplegia, Optic atrophy, Elev... OMIM:271245
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... OMIM:201475
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Abnormal cardiac ventricular function, Increased urine alpha-ketoglutarate conce... ORPHA:2394
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy, Decreased activity of mitochondrial complex I, Encephalopathy OMIM:618246
Chorea, Benign Hereditary
Gait disturbance, Dementia, Anxiety OMIM:118700
Combined Oxidative Phosphorylation Deficiency 33
Sensorineural hearing impairment, Nephrotic syndrome, Left ventricular hypertrophy, Elevated hepa... OMIM:617713
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Proximal muscle weakness, Amyo... OMIM:160500
2,4-Dienoyl-Coa Reductase Deficiency
Hyperlysinemia, Hyperlysinuria, Decreased plasma free carnitine, Poor head control, Encephalopathy OMIM:616034
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Ventricular septal defect, Encephalopathy ORPHA:306550
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Encephalopathy OMIM:614741
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Gowers ... ORPHA:352470
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Proximal muscle weakness, Elevated urinary 3-hydroxybutyric acid, Fatigabl... ORPHA:42
Spastic Paraplegia Type 7
Lower limb muscle weakness, Optic atrophy, Optic disc pallor, Urinary urgency, Abnormal mitochond... ORPHA:99013
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Elevated hepatic transaminase, Decreased activity of mitochondrial comple... OMIM:613561
Tibial Muscular Dystrophy
Distal upper limb muscle weakness, Increased variability in muscle fiber diameter, Peroneal muscl... ORPHA:609
Gaucher Disease Type 2
Flexion contracture, Ophthalmoplegia, Cardiac arrest, Hepatomegaly, Splenomegaly, Encephalopathy ORPHA:77260
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... OMIM:613752
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... ORPHA:206549
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Encephalopathy, Muscle weakness, Sensorineural hearing impairment, Optic atrophy ORPHA:1171
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Proximal muscle weakness, Gowers sign, Elevated h... OMIM:612937
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating cr... OMIM:232400
Encephalopathy, Progressive, With Or Without Lipodystrophy
Encephalopathy, Hypertriglyceridemia, Hepatomegaly OMIM:615924
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Late-onset proximal muscle weakness, Lower l... OMIM:608810
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Aminoaciduria, Sensorineural hearing impairment, Ophthalmoplegia, Methylmalonic acidemia, Decreas... OMIM:612073
Combined Oxidative Phosphorylation Defect Type 27
EEG with periodic lateralized epileptiform discharges, Epileptic encephalopathy, Decreased activi... ORPHA:477774
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Cardiomyopathy OMIM:208750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Distal upper limb muscle weakness, Cardiomyopathy, Increased variabilit... OMIM:619566
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitocho... OMIM:251880
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Sensorineural heari... OMIM:617950
Charcot-Marie-Tooth Disease, Type 4B1
Proximal muscle weakness, Decreased motor nerve conduction velocity, Abnormal auditory evoked pot... OMIM:601382
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Generalized muscle weakness, Neck flexor weakness, Centrally nucleated skeletal muscle fibers, Sc... OMIM:608358
Isolated Complex I Deficiency
Proximal tubulopathy, Sensorineural hearing impairment, Abnormal mitochondria in muscle tissue, H... ORPHA:2609
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Decreased activity of mitochondrial ATP synthase complex, 3-Methylglutaconic aciduria, Encephalop... OMIM:615228
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular ... OMIM:619902
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microve... OMIM:615395
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Cognitive impairment, Ataxia, Depression, Anxiety, Memory impairment ORPHA:401901
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly OMIM:610539
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Generalized muscle weakness... OMIM:611705
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Frontotemporal dementia, Shuffling gait, Falls, Inertia, Motor deteriorat... ORPHA:412066
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric acidemia, D-2-hydroxyglutaric aciduria, Cardiomyopathy OMIM:613657
Multiple Mitochondrial Dysfunctions Syndrome 3
Generalized muscle weakness, Hyperglycinemia, Optic atrophy, Arthrogryposis multiplex congenita, ... OMIM:615330
Basal Ganglia Calcification, Idiopathic, 5
Cognitive impairment, Apathy, Dementia, Depression, Anxiety, Athetosis OMIM:615483
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, EEG abnormality, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hyposp... OMIM:618815
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice, Encephalopathy OMIM:218800
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Renal tubu... OMIM:255120
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased plasma carnitine, Elevated hepatic... ORPHA:71212
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Mitochondrial Complex I Deficiency, Nuclear Type 3
Encephalopathy, Hepatomegaly OMIM:618224
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Coenzyme Q10 Deficiency, Primary, 1
Hepatic failure, Sensorineural hearing impairment, Decreased level of coenzyme Q10 in skeletal mu... OMIM:607426
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spinal muscular atrophy, Optic atrophy, Foot dorsiflexor weakness, Distal amyotrophy, Encephalopathy OMIM:617207
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Difficulty walking, Depression, Anxiety, Mental deterioration OMIM:619191
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... ORPHA:397744
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Proximal muscle weakness, Achilles tendon contrac... OMIM:300696
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Optic atrophy, Supraventricular arrhythmia, Diabetes mellitus, Leg muscle stiffness, Distal lower... ORPHA:320360
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Infantile encephalopathy, Infantile sensorineural hearing impairment, Generalized muscle weakness... ORPHA:254875
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... OMIM:608807
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Elevated circulatin... OMIM:181350
Propionic Acidemia
Organic aciduria, Hypoglycemia, Hyperammonemia, Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Decreased activity of mitochondrial complex I, Encephalopathy, Optic disc pallor OMIM:618230
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... OMIM:609129
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Encephalopathy, Hepatosplenomegaly OMIM:610329
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Abnormal muscle fiber myotilin, ... ORPHA:98911
Developmental And Epileptic Encephalopathy 97
Poor head control, Hypsarrhythmia, Epileptic encephalopathy OMIM:619561
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Late-onset proximal muscle weakness, Third degree atrioventricular bl... OMIM:601419
Cerebral Creatine Deficiency Syndrome 3
Organic aciduria, Gowers sign OMIM:612718
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Abnormal circulating lipid concentration, Sensorineural hearing impairment, Exter... ORPHA:225
Frontotemporal Dementia With Motor Neuron Disease
Proximal muscle weakness, Generalized amyotrophy, Distal muscle weakness, Bilateral sensorineural... ORPHA:275872
Barth Syndrome
Endocardial fibroelastosis, 3-Methylglutaconic aciduria, Macrotia, Tricuspid regurgitation, Skele... OMIM:302060
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Flexion contracture, Elevated hepatic transaminase, Hepatic steatosis, Hypertrophic cardiomyopath... ORPHA:17
Combined Malonic And Methylmalonic Acidemia
Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic aciduria, Dicarboxylic acidem... ORPHA:289504
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Hyperalaninemia, Lacticaciduria, Hyperprolinemia, Elevated urina... OMIM:619003
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp... OMIM:615158
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Elevated circulating alanine aminotransferase con... OMIM:615595
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hyperalaninemia, Mitochondrial respiratory chain defects, Renal tubular acidosis, Type 2 muscle f... OMIM:615471
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Generalized amyotrophy, EEG abnormality, Absent brainstem audit... OMIM:617519
Huntington Disease-Like 1
Aggressive behavior, Dementia, Dysmetria, Depression, Anxiety, Unsteady gait OMIM:603218
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Encephalopathy, Epileptic encephalopathy OMIM:616341
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Elevated hepatic transaminase, Dilated cardiomyopath... ORPHA:263494
Developmental And Epileptic Encephalopathy 35
Encephalopathy, Cardiomyopathy OMIM:616647
Combined Oxidative Phosphorylation Deficiency 13
Sensorineural hearing impairment, Decreased nerve conduction velocity, Skeletal muscle atrophy, P... OMIM:614932
Combined Oxidative Phosphorylation Deficiency 20
Hyperalaninemia, EEG with burst suppression, Progressive external ophthalmoplegia, Left ventricul... OMIM:615917
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Generalized amyotrophy, Dilated cardiomyopathy, Progressive exter... ORPHA:352447
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hyperalanin... OMIM:619048
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Hepatocellular carcinoma, Elevated hepatic transaminase, Elevated ci... ORPHA:370
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Ketonuria, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventr... OMIM:619167
Nemaline Myopathy 11, Autosomal Recessive
Abnormal circulating creatine kinase concentration, Cardiomyopathy, Gowers sign, Type 1 muscle fi... OMIM:617336
Galactosemia Iii
Aminoaciduria, Sensorineural hearing impairment, Hypergalactosemia, Jaundice, Galactosuria, Hepat... OMIM:230350
Neuraminidase Deficiency
Sensorineural hearing impairment, Urinary excretion of sialylated oligosaccharides, Increased uri... OMIM:256550
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Persistent patent ductus venosus, Decreased... OMIM:601466
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Renal insuffici... ORPHA:890
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Non... ORPHA:391428
Hemochromatosis, Type 2A
Cirrhosis, Increased serum iron, Azoospermia, Dilated cardiomyopathy, Congestive heart failure, I... OMIM:602390
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Proximal muscle weakness, Reduced left ventricula... OMIM:611615
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hyperuricemia, EEG abnormality, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methyl... OMIM:246450
Mitchell Syndrome
Abnormal autonomic nervous system physiology, Limb muscle weakness, Encephalopathy, Respiratory i... OMIM:618960
Myopathy, Myofibrillar, 6
Knee flexion contracture, Generalized muscle weakness, Restrictive cardiomyopathy, Proximal muscl... OMIM:612954
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Limb-girdle muscle weakness, Proximal muscle weakness, Calf muscle hypertrophy, Sinus tachycardia... OMIM:255160
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Ophthalmoplegia, Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy,... OMIM:614458
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... OMIM:616515
Ethanolaminosis
Cardiomegaly OMIM:227150
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Apathy, Depression, Anxiety, Mental deterioration, Memory impairment, Bradykinesia ORPHA:240085
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Proximal muscle weakness, Stage 5 chronic kidney disease, Mitochondrial swelling... OMIM:618250
Parkinson Disease 6, Autosomal Recessive Early-Onset
Depression, Dementia, Bradykinesia, Anxiety OMIM:605909
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, Cardiomyopathy OMIM:610100
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Abnormality of the kidney, Hepatocellular carcinoma, Elevated hepati... ORPHA:369
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal upper limb muscle weakness, Interosseus muscle atrophy, Distal lower limb amyotrophy, Neur... OMIM:500013
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Renal steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Im... OMIM:261680
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Hyperglycinemia, Increased mitochondrial number, ... OMIM:619063
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperalaninemia, Lacticaciduria, Hyperprolinemia, Decreased activity of the pyruvate dehydrogenas... ORPHA:79246
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Limb-girdle muscle weakness, 3-Methylglutaconic aciduria, Proximal muscle weakness, Rhabdomyolysi... OMIM:251900
Combined Oxidative Phosphorylation Defect Type 13
Profound static encephalopathy, Sensorineural hearing impairment, Mitochondrial respiratory chain... ORPHA:319514
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Proximal muscle weak... ORPHA:86812
Carnitine Palmitoyltransferase Ii Deficiency
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Elevated circulating ... ORPHA:157
Melas
Recurrent pancreatitis, EEG abnormality, Optic atrophy, Abnormal mitochondria in muscle tissue, W... ORPHA:550
Leigh Syndrome
Multiple joint contractures, Optic atrophy, Decreased activity of the pyruvate dehydrogenase comp... ORPHA:506
Developmental And Epileptic Encephalopathy 45
Hypsarrhythmia, Epileptic encephalopathy OMIM:617153
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating alanine aminotransferase concentration, Generalized muscle weakness, Proxima... ORPHA:308552
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Ele... OMIM:604765
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentration, Muscle weak... OMIM:300376
Developmental And Epileptic Encephalopathy 60
EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy OMIM:617929
Childhood-Onset Nemaline Myopathy
Fatigable weakness of bulbar muscles, Cardiomyopathy, Flexion contracture, Increased variability ... ORPHA:171439
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... OMIM:612999
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... OMIM:613070
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Myofibrillar myopathy, Autophagic vacuoles, Progressive distal muscle wea... OMIM:609452
Potocki-Lupski Syndrome
Patent foramen ovale, EEG abnormality, Atrial septal defect, Hypocholesterolemia, Abnormal renal ... OMIM:610883
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Increased serum iron, Elevated transferrin saturation, Elevated hepa... OMIM:613313
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hepatomegaly, Hypocholesterolemia, Micropenis, Encephalopathy OMIM:618810
Developmental And Epileptic Encephalopathy 7
EEG with burst suppression, Epileptic encephalopathy OMIM:613720
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... OMIM:610198
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Proximal muscle weakness, Centrally nucleated ske... ORPHA:401768
Squalene Synthase Deficiency
Knee flexion contracture, Macrotia, Decreased LDL cholesterol concentration, Bicuspid aortic valv... OMIM:618156
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Hypoglycemia, Decreased liver function, Hearing impairment, Cardiomy... ORPHA:67048
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hyperalaninemia, Elevated hepatic transaminase, Decreased activi... OMIM:619064
Combined Oxidative Phosphorylation Deficiency 3
Patent foramen ovale, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Optic atrophy, Dila... OMIM:610505
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... OMIM:607765
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of... ORPHA:391457
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Ophthalmoplegia, Optic atrophy, Abnormal mitochondria in muscle tissue, Dila... OMIM:252011
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transamina... OMIM:212138
Glycine Encephalopathy
Encephalopathy, Hyperglycinemia, Hyperglycinuria OMIM:605899
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Gait disturbance, Hypogonadism ORPHA:1875
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Epileptic encephalopathy, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
Developmental And Epileptic Encephalopathy 70
Flexion contracture, Hypsarrhythmia, Epileptic encephalopathy, Poor head control, Low-set ears OMIM:618298
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Aminoaciduria, 3-Methylglutaconic aciduria, Flexion contracture, Decreased activity of mitochondr... OMIM:604273
Developmental And Epileptic Encephalopathy 59
Poor head control, Hypsarrhythmia, Multifocal epileptiform discharges, Epileptic encephalopathy OMIM:617904
Developmental And Epileptic Encephalopathy 58
Hypsarrhythmia, Optic atrophy, Epileptic encephalopathy OMIM:617830
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Generalized muscle weakness, Restrictive cardiomyopathy, Type 1 fibers relativ... OMIM:619424
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Renal dysplasia, Elbow flexion contracture, Elevated hepatic ... OMIM:608836
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Multifocal epileptiform discharges, Hepatomegaly, Joint contracture, Splenom... OMIM:608540
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Sensorineural hearing impairment, Centrally nucleated skeletal muscle fibers, Mitochondrial hyper... OMIM:619518
Intermediate Nemaline Myopathy
Cardiomyopathy, Generalized muscle weakness, Flexion contracture, Ophthalmoplegia, EMG: myopathic... ORPHA:171433
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Proximal mu... ORPHA:52430
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, EEG abnormality, Elevated hepatic transaminase, Lacticaciduria, Hepatic steatosis,... OMIM:124000
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Decreas... OMIM:618839
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria... ORPHA:228308
Developmental And Epileptic Encephalopathy 69
EEG abnormality, Hypsarrhythmia, Epileptic encephalopathy, Arthrogryposis multiplex congenita, Co... OMIM:618285
Ravine Syndrome
Abnormal auditory evoked potentials, Progressive encephalopathy ORPHA:99852
Episodic Ataxia, Type 9
Paroxysmal vertigo, Encephalopathy, Vertigo OMIM:618924
Hemochromatosis, Type 1
Cirrhosis, Telangiectasia, Increased serum iron, Glucose intolerance, Azoospermia, Hepatocellular... OMIM:235200
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Increased total bilirubin, Alaninuria, Elevated hepatic transami... OMIM:616299
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Macrotia, Flexion contracture, Proximal tubulopathy, Nephrotic syndrome, Perica... OMIM:212065
Peroxisome Biogenesis Disorder 3B
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Steatorrhea, ... OMIM:266510
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased plasma carnitin... ORPHA:79159
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Proximal muscle weakness, Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular d... ORPHA:34515
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urine acetoacetic acid level, Hypoornithinemia, Hyperalaninemia, Ketonuria, Elevated uri... OMIM:615751
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Myopathy, Autoph... OMIM:609500
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated cardiomyopathy, Left ventr... OMIM:613642
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Multifocal epileptiform discharges, Congestive heart failure, EEG with abnormally slow frequencie... ORPHA:70472
Glycogen Storage Disease Ii
Proximal muscle weakness, Sinus tachycardia, Wolff-Parkinson-White syndrome, Elevated circulating... OMIM:232300
Autosomal Recessive Progressive External Ophthalmoplegia
Cardiomyopathy, Proximal muscle weakness, External ophthalmoplegia, Muscle fiber atrophy, Optic a... ORPHA:254886
Danon Disease
Proximal muscle weakness, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-Wh... OMIM:300257
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Generalized muscle weakness, Proximal muscle weakness, Calf muscle hypertrophy, Absent muscle dys... ORPHA:206546
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Multicystic kidney dysplasia, Renal dysplasia, Abnormal biliary trac... ORPHA:3032
Hyperekplexia 4
Distal arthrogryposis, Flexion contracture, Hypsarrhythmia, Camptodactyly, Encephalopathy OMIM:618011
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Syncope... ORPHA:276580
Hemochromatosis, Type 4
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... OMIM:606069
Brown-Vialetto-Van Laere Syndrome 2
Sensorineural hearing impairment, Generalized amyotrophy, Optic atrophy, Neck muscle weakness, Or... OMIM:614707
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Limb-girdle muscle weakness, Proximal muscle weakness, Muscular dystrophy, Elevated circulating c... OMIM:615352
Neutral Lipid Storage Myopathy
Gowers sign, Progressive distal muscle weakness, Elevated hepatic transaminase, Hepatic steatosis... ORPHA:98908
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Lacticaciduria, Hypertrophic cardiomyopathy, Hypoglycemia, Hepato... OMIM:252010
Infantile Refsum Disease
Sensorineural hearing impairment, Optic atrophy, Elevated circulating phytanic acid concentration... ORPHA:772
Developmental And Epileptic Encephalopathy 62
Hypsarrhythmia, Epileptic encephalopathy OMIM:617938
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Temporal optic disc pallor, Sensorineural hearing impairment, Optic ... ORPHA:1215
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Cardiomyopathy, Abnormal atrioventricular conduction, Neck flexor weakness, Fatigable weakness of... ORPHA:329336
Mitochondrial Complex I Deficiency, Nuclear Type 26
Limb hypertonia, EEG abnormality, Lacticaciduria, Hearing impairment, Distal amyotrophy, Decrease... OMIM:618247
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Decreased activity of mitochondrial ATP... OMIM:614053
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Elevated hepatic transaminase, Decreased activity of mitochondrial complex III, Hypogl... OMIM:615453
Adult-Onset Distal Myopathy Due To Vcp Mutation
Urinary incontinence, Fatty replacement of skeletal muscle, Proximal muscle weakness, Weakness of... ORPHA:329478
Sarcosinemia
Infantile sensorineural hearing impairment, Optic atrophy, Hypertrophic cardiomyopathy, Peroneal ... ORPHA:3129
Spinocerebellar Ataxia, Autosomal Recessive 31
External ophthalmoplegia, Optic atrophy, Muscle weakness, Bilateral sensorineural hearing impairm... OMIM:619422
Developmental And Epileptic Encephalopathy 53
Elevated circulating creatine kinase concentration, Hypsarrhythmia, Epileptic encephalopathy OMIM:617389
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Decreased activity of mitochondria... OMIM:615440
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Abno... ORPHA:3077
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Limb hypertonia, Perimembranous ventricular septal defect, Hyperprolinemia, Card... OMIM:619170
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hypertension, Hepatic steatosis, Progressive enc... ORPHA:363400
Spinocerebellar Ataxia 48
Gait ataxia, Cachexia, Ataxia, Dysmetria, Depression, Anxiety, Mental deterioration, Irritability OMIM:618093
Mitochondrial Complex I Deficiency, Nuclear Type 22
Poor head control, Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex I OMIM:618243
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism, Jaundice, Hyperbil... ORPHA:64743
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency, Progressive external ophthalmoplegia, Cardio... ORPHA:254857
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Encephalopathy OMIM:610090
Combined D-2- And L-2-Hydroxyglutaric Aciduria
L-2-hydroxyglutaric aciduria, Increased urine alpha-ketoglutarate concentration, Increased urine ... OMIM:615182
Developmental And Epileptic Encephalopathy 15
Hypsarrhythmia, Epileptic encephalopathy OMIM:615006
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Multifocal epileptiform discharges, Epileptic encephalopathy, D... OMIM:616672
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Decreas... OMIM:618835
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Ophthalmoplegia, Optic atrophy, Abnormal auditory... OMIM:125250
Hsd10 Disease
Nonprogressive encephalopathy, Optic atrophy, Elevated urinary 3-hydroxybutyric acid, Abnormal ur... ORPHA:391417
Congenital Disorder Of Glycosylation, Type Iih
Interface hepatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circ... OMIM:611182
Hyperprolinemia Type 2
Prolinuria, Hyperalaninemia, Hyperglycinemia, Ophthalmoparesis, Increased urine alpha-ketoglutara... ORPHA:79101
Galactosemia
Hepatic failure, Cirrhosis, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice,... ORPHA:352
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Acute encephalopathy OMIM:618113
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Encephalopathy, Hypsarrhythmia, Tetralogy of Fallot, Abnormality of mitochondrial metabolism ORPHA:88639
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Decreased muscle mass, Sensorineural hearing impairment, External ophthalmoplegia, Oph... ORPHA:298
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyri... OMIM:605711
Lennox-Gastaut Syndrome
Encephalopathy, EEG abnormality, EEG with focal sharp slow waves ORPHA:2382
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circula... OMIM:600649
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia, Generalized amyotrophy, Optic atrophy, Vertigo, Muscle weakness, Hypertrophic car... ORPHA:79279
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Sensorineural hearing impairment, Epileptic encephalopathy OMIM:618379
Citrullinemia, Type Ii, Adult-Onset
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Argininosuccinic a... OMIM:603471
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Necrotizing encephalopathy OMIM:260970
Developmental And Epileptic Encephalopathy 31A
Hypsarrhythmia, Epileptic encephalopathy OMIM:616346
D-2-Hydroxyglutaric Aciduria 1
Infantile encephalopathy, D-2-hydroxyglutaric aciduria, Hypsarrhythmia, Aortic regurgitation, Mus... OMIM:600721
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Skeletal muscle steatosis, Generalized muscle weakness, Aminoaciduria, Optic atrophy, Glycosuria,... ORPHA:436271
Developmental And Epileptic Encephalopathy 63
Poor head control, Conductive hearing impairment, EEG with generalized epileptiform discharges, E... OMIM:617976
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Flexion contracture, Muscular dystrophy, Elevated circulating creati... OMIM:609308
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:615838
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral valv... OMIM:616648
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Optic atrophy, Pericardial effusion, Decreased activity of mitochondrial complex... OMIM:614702
Aminoacylase 1 Deficiency
Muscle weakness, Bradycardia, Acute encephalopathy, Sensorineural hearing impairment OMIM:609924
Muscular Dystrophy, Cardiac Type
Carnosinuria, Abnormal EKG, Muscular dystrophy, Elevated circulating creatine kinase concentratio... OMIM:309930
Aicardi-Goutieres Syndrome 2
Encephalopathy OMIM:610181
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Proximal muscle weakness, Sensorineural hearing i... OMIM:258450
Hurler-Scheie Syndrome
Splenomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Hepatomegaly,... ORPHA:93476
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy... OMIM:614654
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Decreased activity of the pyruvate dehydrogenase complex, Hypertrophic... OMIM:616277
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... OMIM:620135
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Ophthalmoplegia, Optic atrophy, Decreased activity of mitochondrial re... ORPHA:255241
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, External ophthalmoplegia, Type II diabetes mellitus, Abnormal v... OMIM:520000
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Abnormality of Krebs cycle metabolism, Sensorineural hearing impairment, Hyperal... ORPHA:255210
Congenital Toxoplasmosis
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hearing impairment ORPHA:858
Developmental And Epileptic Encephalopathy 38
Epileptic encephalopathy OMIM:617020
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
3-Methylglutaconic aciduria, Sensorineural hearing impairment, Optic atrophy, Hypoglycemia, Hyper... OMIM:614739
Propionic Acidemia
Cerebellar hemorrhage, Acute encephalopathy, Hyperglycinemia, Limb hypertonia, Hypoglycemia, Incr... OMIM:606054
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: my... OMIM:615418
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... OMIM:613255
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Foot joint contracture, Aplasia/Hypoplasia of the pancreas, Sensorineural hearing impairment, Joi... ORPHA:456312
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Ventricular septal defect, Renal tubular acidosis, Glycosuria, Nephrocalcinosis, J... OMIM:613404
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute encephalopathy, Homocitrullinuria, Decreased nerve conduction velocity, Hyperammonemia, Hep... OMIM:238970
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Chronic hepatic encephalopathy, Anomalous splenoportal venous system... OMIM:271500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... ORPHA:276575
Chylomicron Retention Disease
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, EMG: myopathic abnormalities, H... ORPHA:71
Developmental And Epileptic Encephalopathy 107
Epileptic encephalopathy OMIM:620033
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Hyperuricemia, EEG abnormality, Ketonuria, Cardiac arrest, Jaundice, Nonketotic hypo... ORPHA:20
Intellectual Developmental Disorder, Autosomal Dominant 46
Epileptic encephalopathy OMIM:617601
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Decreased muscle mass, Abnormality of iron homeostasis, Elevated jugular venous pressu... ORPHA:465508
Wolcott-Rallison Syndrome
Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Abnormality of the l... ORPHA:1667
Congenital Bile Acid Synthesis Defect Type 4
Rhabdomyolysis, Type II diabetes mellitus, Elevated hepatic transaminase, Elevated circulating cr... ORPHA:79095
Intellectual Developmental Disorder, Autosomal Dominant 5
Torticollis, Congenital muscular torticollis, EEG abnormality, Epileptic encephalopathy OMIM:612621
Developmental And Epileptic Encephalopathy 88
Hyperglutamatemia, Hypsarrhythmia, Epileptic encephalopathy OMIM:618959
Cach Syndrome
Flexion contracture, Optic atrophy, Arthrogryposis multiplex congenita, Hepatosplenomegaly, Renal... ORPHA:135
Dpm1-Cdg
Knee flexion contracture, Hepatic fibrosis, Optic atrophy, Muscular dystrophy, Elevated hepatic t... ORPHA:79322
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Elevated hepatic transaminase, Elevated circulating creatine kinase concent... OMIM:614921
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure, Abnormality of the mitochondrio... ORPHA:91130
Maternal Uniparental Disomy Of Chromosome 4
Neck flexor weakness, Sensorineural hearing impairment, Decreased LDL cholesterol concentration, ... ORPHA:96180
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Acute kidney injury, Exercise-induced myoglobinuria, Glycogen accumulation in mus... ORPHA:368
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Poor head control, Cardiomyopathy OMIM:619651
Gracile Syndrome
Aminoaciduria, Increased circulating ferritin concentration, Increased serum pyruvate, Cholestasi... OMIM:603358
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Epileptic encephalopathy OMIM:618512
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Hypsarrhythmia, Epileptic encephalopathy, Decreased liver function, Prolonged neon... OMIM:618437
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Joint contracture, Optic atrophy, Epileptic encephalopathy OMIM:618324
Infantile Liver Failure Syndrome 2
Jaundice, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Acute hepatic failure, Hep... OMIM:616483
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steato... ORPHA:445038
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Hypoplasia of penis, Congestive heart failure, Hypoglycemia, Low-set,... ORPHA:2022
Hyperinsulinism Due To Ucp2 Deficiency
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... ORPHA:276556
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Hepatomegaly, Abnormal circulatin... ORPHA:57777
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... ORPHA:98853
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture, Encephalopathy, Decreased activity of the pyruvat... OMIM:614462
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Elevated circulating acylcarnitine concentration, Sensorineural hearing impai... OMIM:616878
Folinic Acid-Responsive Seizures
Sensorineural hearing impairment, Optic atrophy, Hypsarrhythmia, Multifocal epileptiform discharg... ORPHA:79097
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Glutaric Acidemia I
Infantile encephalopathy, Ketonuria, Hypoglycemia, Glutaric aciduria, Hepatomegaly, Elevated circ... OMIM:231670
Charcot-Marie-Tooth Disease, Type 4C
Proximal muscle weakness, Decreased motor nerve conduction velocity, Distal muscle weakness, Dist... OMIM:601596
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperalaninemia, Cerebral ischemia, Acute hyperammonemia, Hyperammonemia, Hepatomegaly, Encephalo... ORPHA:927
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Encephalopathy OMIM:616636
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Refsum Disease, Classic
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Congestive he... OMIM:266500
Classic Glucose Transporter Type 1 Deficiency Syndrome
Encephalopathy, EEG abnormality ORPHA:71277
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, Increased sarcoplasmic g... ORPHA:264580
Abetalipoproteinemia
Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Ophthalmoplegia, Hyperbilir... ORPHA:14
Developmental And Epileptic Encephalopathy 12
Hypsarrhythmia, Epileptic encephalopathy OMIM:613722
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Encephalopathy OMIM:619028
Multiple Mitochondrial Dysfunctions Syndrome 6
Poor head control, Hearing impairment, Optic atrophy, Epileptic encephalopathy OMIM:617954
Progressive Myoclonic Epilepsy With Dystonia
EEG with irregular generalized spike and wave complexes, Optic atrophy, Epileptic encephalopathy ORPHA:352596
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Hyperlysinemia, Renal tubular acidosis, Decreased plasma carnitine, Abnormal circulating carnitin... ORPHA:431361
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Proximal muscle weakness, Progressive hearing impairment, Progressive external ophthalmoplegia, E... OMIM:609286
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Sensorineural hearing impairment, Skeletal myopathy, Pancreatitis, Abno... ORPHA:565612
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Abnormal au... ORPHA:85451
Mitochondrial Complex I Deficiency, Nuclear Type 33
Optic atrophy, Hypoglycemia, Hypospadias, Hyperammonemia, Decreased activity of mitochondrial com... OMIM:618253
Combined Oxidative Phosphorylation Deficiency 35
Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, EE... OMIM:617873
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hearing impairment, Hepatomegaly, Cardiomegaly, Splenomegaly, Hepa... OMIM:252920
Glycogen Storage Disease Iv
Cirrhosis, Hepatic failure, Hepatosplenomegaly, Muscle weakness, Skeletal muscle atrophy, Portal ... OMIM:232500
Primary Non-Essential Cutis Verticis Gyrata
Encephalopathy, Ventricular septal defect, Atrial septal defect ORPHA:357225
Sengers Syndrome
Muscle weakness, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Myopathy OMIM:212350
Mitochondrial Dna Depletion Syndrome 11
Generalized amyotrophy, Dilated cardiomyopathy, Progressive external ophthalmoplegia, Elevated ci... OMIM:615084
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
EEG abnormality, Epileptic encephalopathy OMIM:617820
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Congestive heart failure, Hepatomegaly, Cardiomegaly, Splenomegaly, Conjugate... OMIM:269920
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Infantile encephalopathy ORPHA:263410
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperalaninemia, Sensorineural hearing impairment, Neonatal hypoglycemia, Muscle weakness, Increa... OMIM:619046
Schimke Immuno-Osseous Dysplasia
Pulmonary arterial hypertension, Nephrotic range proteinuria, Ischemic stroke, Cerebral ischemia,... ORPHA:1830
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Intrahepatic biliary atresia, Patent foramen ovale, Renal tubular atrophy, Aminoaciduria, Ventric... OMIM:208085
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia, Hepatosple... OMIM:608776
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Generalized muscle weakness, Tricuspid regurgitation, Skeletal myopathy... ORPHA:746
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Hepatic steatosis, Renal cyst, Myopathy, Renal hypoplasi... OMIM:614922
Developmental And Epileptic Encephalopathy 49
Epileptic encephalopathy, Macrotia, Optic atrophy, EEG abnormality OMIM:617281
Desminopathy
Sudden cardiac death, Fatigable weakness of bulbar muscles, Neck flexor weakness, Fatigable weakn... ORPHA:98909
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hepatic failure, Renal tubular acidosis, Elevated hepatic transaminase, Tra... ORPHA:156
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Mitochondrial Dna Depletion Syndrome 18
Proximal muscle weakness, Hand muscle atrophy, Lacticaciduria, Weakness of facial musculature, Di... OMIM:618811
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Hypertrophic cardiomyopathy, Decreased nerve conduction velocity, Skelet... ORPHA:868
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Neutral Lipid Storage Disease With Ichthyosis
Small earlobe, Abnormal circulating creatine kinase concentration, Sensorineural hearing impairme... ORPHA:98907
Developmental And Epileptic Encephalopathy 11
Epileptic encephalopathy OMIM:613721
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Abnormal renal physiology, Nephropathy, Atrioventri... ORPHA:85447
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Sensorineural hearing impairment, Renal Fanconi syndrome, Ophthalmoparesis, Optic ... OMIM:220110
Developmental And Epileptic Encephalopathy 23
Supravalvular aortic stenosis, Hypsarrhythmia, Abnormal pinna morphology, Epileptic encephalopathy OMIM:615859
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, 3-Methylglutaconic aciduria, Flexion contracture, Abnormality of the kid... ORPHA:1194
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Flexion contracture, Gowers sign, Elevated circulatin... ORPHA:365
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... ORPHA:98863
Hypobetalipoproteinemia, Familial, 1
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... OMIM:615558
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Pelvic gird... ORPHA:119
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated circulating aspa... ORPHA:158061
Early Myoclonic Encephalopathy
Hypsarrhythmia, EEG abnormality, Epileptic encephalopathy ORPHA:1935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cardiomyopathy, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital musc... OMIM:613155
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Encephalopathy, Hyperalaninemia, Increased serum pyruvate, EEG abnormality OMIM:617668
D-Glyceric Aciduria
Aminoaciduria, Sensorineural hearing impairment, Hypsarrhythmia, Optic nerve hypoplasia, Nonketot... OMIM:220120
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Electron transfer flavoprotein-ubiquinone oxidoreduct... OMIM:231680
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Muscle flaccidity, Dilated cardiomyopathy ORPHA:34587
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Encephalopathy, Low-set ears, Flexion contracture, Posteriorly rotated ears OMIM:616281
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Epileptic encephalopathy OMIM:615338
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Endocardial fibrosis OMIM:607685
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
3-Methylglutaconic aciduria, Optic atrophy, Congestive heart failure, Vertigo, Increased hepatic ... OMIM:619259
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Pulmonary hemorrhage, Nephrotic syndrome, Elevated hepatic transaminas... OMIM:619644
Citrullinemia Type Ii
Hypercholesterolemia, Hepatic fibrosis, Elevated plasma citrulline, Elevated hepatic transaminase... ORPHA:247585
Peho-Like Syndrome
Infantile encephalopathy, Hypsarrhythmia, Optic atrophy OMIM:617507
Pandas
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depression, Ag... ORPHA:66624
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Cirrhosis, Hyperuricemia, Maternal diabetes, Insulin resistance, Congestive heart f... ORPHA:79083
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Ventricular septal defect, Abnormal mitral valve morp... ORPHA:860
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Distal muscle weakness, Decreased nerve conduction velocity,... OMIM:601455
Developmental And Epileptic Encephalopathy 55
Flexion contracture, Limb hypertonia, Hypsarrhythmia, Multifocal epileptiform discharges, Epilept... OMIM:617599
X-Linked Neurodegenerative Syndrome, Bertini Type
Epileptic encephalopathy ORPHA:85334
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Heart murmur, Jaundice, Congestive heart failure, ... ORPHA:615
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Atrial septal defect, Hepatomegaly, Epileptic encephalopathy OMIM:619881
Mitochondrial Complex I Deficiency, Nuclear Type 10
Encephalopathy, External ophthalmoplegia, Decreased activity of mitochondrial complex I, Optic at... OMIM:618233
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
3-Methylglutaconic aciduria, Hyperalaninemia, Decreased activity of mitochondrial ATP synthase co... OMIM:614052
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Sensorineural hearing impairment, Ventricular septal defect, Optic atrophy, Atrial... OMIM:249270
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Progressive encephalopathy, Nonketo... ORPHA:941
Mcleod Syndrome
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Rhabdomyo... OMIM:300842
Galactosemia I
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Increased ... OMIM:230400
Scleromyxedema
Proximal muscle weakness, Abnormal skeletal muscle morphology, Transient ischemic attack, Abnorma... ORPHA:167635
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Lower limb muscle weakness, Abnormal EKG, Generalized amyotrophy, Optic atrophy, ... ORPHA:1177
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Hypert... ORPHA:79086
Combined Oxidative Phosphorylation Deficiency 18
Methylmalonic aciduria, Skeletal muscle atrophy, Decreased activity of mitochondrial complex I, I... OMIM:615578
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... ORPHA:1909
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Duchenne Muscular Dystrophy
Flexion contracture, Proximal muscle weakness, Calf muscle hypertrophy, Elevated circulating crea... ORPHA:98896
Amyloidosis, Finnish Type
Nephrotic syndrome, Cardiac amyloidosis, Bulbar palsy, Renal insufficiency, Cardiomyopathy OMIM:105120
Perry Syndrome
Inappropriate behavior, Frontotemporal dementia, Akinesia, Suicidal ideation, Weight loss, Apathy... OMIM:168605
Combined Oxidative Phosphorylation Deficiency 5
Decreased activity of mitochondrial ATP synthase complex, Abnormal renal tubule morphology, Decre... OMIM:611719
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Gitelman Syndrome
Pericardial effusion, Neoplasm of the pancreas, Palpitations, Tinnitus, Mitochondrial encephalopa... ORPHA:358
Schilder Disease
Muscle weakness, Encephalopathy, Vertigo ORPHA:59298
Developmental And Epileptic Encephalopathy 57
Hypsarrhythmia, Epileptic encephalopathy OMIM:617771
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Elevated circulatin... ORPHA:98855
Developmental And Epileptic Encephalopathy 92
EEG abnormality, Epileptic encephalopathy OMIM:617829
Hydroxykynureninuria
Hypotension, Renal tubular acidosis, Progressive encephalopathy, Congenital sensorineural hearing... ORPHA:79155
Hemochromatosis, Type 3
Cirrhosis, Elevated transferrin saturation, Elevated hepatic transaminase, Increased circulating ... OMIM:604250
Primary Hyperoxaluria
Elevated urine glycolate, Arterial occlusion, Optic atrophy, Calcium oxalate nephrolithiasis, Sta... ORPHA:416
Infantile Krabbe Disease
Optic atrophy, Muscle weakness, Abnormal heart rate variability, Decreased nerve conduction veloc... ORPHA:206436
Primary Lipodystrophy
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Angina pectoris, Congesti... ORPHA:90970
Peroxisome Biogenesis Disorder 9B
Muscle weakness, Sensorineural hearing impairment, Elevated circulating phytanic acid concentrati... OMIM:614879
Friedreich Ataxia
Optic atrophy, Abnormal EKG, Decreased pyruvate carboxylase activity, Decreased amplitude of sens... OMIM:229300
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Hemolytic-uremic syndrome, Glomerulopathy, M... ORPHA:79282
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Vesicoureteral reflux, Generalized muscle weakness, Proximal muscle wea... ORPHA:3208
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Cardiomyopathy, Flexion contracture, Gowers sign, Abnormal EKG, Calf mu... OMIM:310200
Classic Galactosemia
Hepatic failure, Jaundice, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Encephalopathy ORPHA:79239
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Abnormality of the liver, Muscular dystrophy, Hyperhomocystinemia, Elevated h... ORPHA:88618
Alg1-Cdg
Nephrotic syndrome, Abnormality of the kidney, Abnormal heart morphology, Decreased liver functio... ORPHA:79327
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Epileptic encephalopathy OMIM:618328
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myofiber disarray, Increased variability in muscle fiber diameter, Cardiac arrest, Decreased acti... OMIM:604377
Developmental And Epileptic Encephalopathy 40
Hypsarrhythmia, Epileptic encephalopathy OMIM:617065
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Stress urinar... ORPHA:136
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Camptodactyly of toe, Elevated circulatin... OMIM:300280
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Distal upper limb muscle weakness, Neck flexor weakness, Right bundle branch block, Pollakisuria,... ORPHA:268
Glutamine Deficiency, Congenital
Flexion contracture, Hypoglutaminemia, Camptodactyly, Hyperammonemia, Low-set ears, Bradycardia, ... OMIM:610015
Combined Oxidative Phosphorylation Deficiency 4
Encephalopathy, Hyperammonemia, Hepatomegaly OMIM:610678
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence, Sensorineural hearing impairment, Distal lower limb amyotrophy, Hand muscle... ORPHA:101085
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Optic atrophy, Hyperammonemia, Hepatomegaly, Renal insufficiency, Pancreatitis, Car... ORPHA:79312
Developmental And Epileptic Encephalopathy 27
Hypsarrhythmia, Epileptic encephalopathy OMIM:616139
Al Amyloidosis
Abnormal autonomic nervous system physiology, Hypertrophic cardiomyopathy, Hepatomegaly, Abnormal... ORPHA:85443
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Encephalopathy ORPHA:33276
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Epileptic encephalopathy OMIM:616056
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... OMIM:618641
Developmental And Epileptic Encephalopathy 61
Optic atrophy, Epileptic encephalopathy OMIM:617933
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
External ophthalmoplegia, Abnormal mitochondrial shape, Optic atrophy, EEG abnormality, Hypsarrhy... ORPHA:485421
Polymyositis
Abnormal atrioventricular conduction, Proximal muscle weakness, Abnormal mitral valve morphology,... ORPHA:732
Non-Specific Early-Onset Epileptic Encephalopathy