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Gene: Serac1 MGI:2447813

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Gene Summary

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

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
enlarged lymph nodes Serac1em1(IMPC)Tcp HOM Early adult 0.00
decreased vertical activity Serac1em1(IMPC)Tcp HOM   Early adult 4.67×10-06
increased freezing behavior Serac1em1(IMPC)Tcp HOM Early adult 2.00×10-06
enhanced contextual conditioning behavior Serac1em1(IMPC)Tcp HOM Early adult 6.56×10-05
decreased exploration in new environment Serac1em1(IMPC)Tcp HOM Early adult 3.88×10-10
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

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

11 Images

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Eye Morphology

Images Ophthalmoscopy

84 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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
Hypoglycemia, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, 3-Methylglutaconic... OMIM:614739

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Fatty replacement o... OMIM:255100
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Neck flexor weakness, Ra... ORPHA:457050
Gne Myopathy
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... ORPHA:602
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... OMIM:610717
Carnitine Deficiency, Systemic Primary
Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular hepatic steatosi... OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Elevated circulating dodecanoylcarnitine concentration, Elevated ... OMIM:619355
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Cardiomyocyte mitoch... OMIM:616500
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Fatiguable weakness of proximal limb muscles, Respiratory insufficiency due to muscle weakness, I... ORPHA:63273
Myopathy, Myofibrillar, 3
Elevated circulating creatine kinase concentration, Progressive distal muscle weakness, Proximal ... OMIM:609200
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Posteri... OMIM:618378
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemic encephalopathy... ORPHA:228305
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... OMIM:618234
Mitochondrial Complex I Deficiency, Nuclear Type 15
Encephalopathy, Optic atrophy, Flexion contracture, Myopathy, Decreased activity of mitochondrial... OMIM:618237
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Decreased activity of mitochondrial ATP synthase complex, Hypoglycemia, Elevated circulating crea... OMIM:618120
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Cardiomyopathy OMIM:609016
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Dicarboxylic acidu... ORPHA:99901
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Poor head control, Hypoglycemia, Elevated circulating aspartate aminotra... OMIM:245400
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemic encephalopathy, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentrati... ORPHA:26792
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... OMIM:619386
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, Neck flexor weakness, Ventricular tachy... ORPHA:263297
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, 3... ORPHA:26791
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute encephalopathy, Neck muscle weakness, Muscle w... ORPHA:158
Mitochondrial Complex I Deficiency, Nuclear Type 14
Optic atrophy, Biventricular hypertrophy, Myopathy, Decreased activity of mitochondrial complex I... OMIM:618236
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Decreased activity of mitochondrial complex IV,... OMIM:617184
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ophthalmoplegia, Rag... OMIM:540000
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Thenar muscle we... OMIM:614065
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Heart block, ... ORPHA:98912
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... OMIM:611126
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Distal u... ORPHA:603
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Decreased activity of mitochondrial complex IV, Generaliz... OMIM:614096
3-Methylglutaconic Aciduria Type 9
Decreased activity of mitochondrial ATP synthase complex, Urinary incontinence, Optic atrophy, Hy... ORPHA:505216
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... ORPHA:159
Congenital Myopathy 8
Distal muscle weakness, Internally nucleated skeletal muscle fibers, Cardiomegaly, Proximal muscl... OMIM:618654
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Decreased activity of mitochondrial ATP synthase complex, Elevated circulating creatine kinase co... OMIM:609560
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Hypoglycemia, Sensorineural hearing impairment,... OMIM:300438
Muscle Filaminopathy
Extremely elevated creatine kinase, Scapular winging, Neck flexor weakness, Left ventricular dias... ORPHA:171445
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Bradycardia, Decreased activity of mitochondrial complex I, Hypertr... OMIM:618235
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Progressive external ophthalmoplegia, Congestive heart failure, Sensori... ORPHA:1349
Mitochondrial Complex I Deficiency, Nuclear Type 7
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Optic atrophy, Enceph... OMIM:618229
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic encephalopathy, Myoglobinuria, Dil... OMIM:231530
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Poor head control, Decreased activity of mitochondrial respiratory chain, Dilated c... OMIM:614299
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Combined Oxidative Phosphorylation Deficiency 22
Congestive heart failure, Decreased activity of mitochondrial complex IV, Decreased activity of m... OMIM:616045
Dna2-Related Mitochondrial Dna Deletion Syndrome
Progressive external ophthalmoplegia, Decreased mitochondrial number, Multiple joint contractures... ORPHA:352470
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Encephalopathy OMIM:615119
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Elevated circulating aspartate aminotransferase concentration, Hearing impairment, Fiber type gro... OMIM:271245
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li... OMIM:246900
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, A... ORPHA:2394
Spastic Paraplegia Type 7
Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal mitochondrial morphology, Ur... ORPHA:99013
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Myopathy, Distal, 1
Toe extensor amyotrophy, Distal muscle weakness, Tibialis anterior muscle atrophy, Left atrial en... OMIM:160500
Isolated Atp Synthase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, Renal hypo... ORPHA:254913
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, EEG abnorma... OMIM:618815
Mitochondrial Complex I Deficiency, Nuclear Type 25
Decreased activity of mitochondrial complex I, Myopathy, Nemaline bodies, Encephalopathy OMIM:618246
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Ankle weakness, Quadriceps muscle weakness, Peroneal ... ORPHA:609
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Poor head control, Elevated circulating asparta... OMIM:613752
Fadd-Related Immunodeficiency
Ventricular septal defect, Hepatic fibrosis, Decreased liver function, Encephalopathy ORPHA:306550
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Organic aciduria, Encephalopathy OMIM:614741
Gaucher Disease Type 2
Hepatomegaly, Cardiac arrest, Splenomegaly, Ophthalmoplegia, Flexion contracture, Encephalopathy ORPHA:77260
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy, Muscle weakness, Encephalopathy ORPHA:1171
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Respiratory insufficiency due to muscle weakness, De... OMIM:613561
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Proximal muscl... OMIM:612937
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... ORPHA:206549
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Gowe... OMIM:602541
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ... OMIM:232400
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Encephalopathy OMIM:615924
Myopathy, Myofibrillar, 2
Distal muscle weakness, Elevated circulating creatine kinase concentration, Respiratory insuffici... OMIM:608810
Combined Oxidative Phosphorylation Defect Type 27
Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, Decreased activity of m... ORPHA:477774
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... OMIM:601382
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy, Sensorineural hearing impairment OMIM:208750
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Progressive external ophthalmoplegia, Elevated circu... OMIM:617713
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Sensorineu... OMIM:617950
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Poor ... ORPHA:2609
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Centrally nucleated skelet... OMIM:608358
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulat... OMIM:251880
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy, D-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric acidemia OMIM:613657
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity... ORPHA:397744
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hepatomegaly, Hypocholesterolemia, Splenomegaly OMIM:610539
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... OMIM:611705
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia, Encephalopathy OMIM:218800
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Dilated cardiomyopa... ORPHA:59135
Multiple Mitochondrial Dysfunctions Syndrome 3
Generalized muscle weakness, Optic atrophy, Decreased activity of mitochondrial complex II, Hyper... OMIM:615330
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Encephalopathy OMIM:617207
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Recurrent encephalopathy, Ele... OMIM:255120
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
3-Methylglutaconic aciduria, Decreased activity of mitochondrial ATP synthase complex, Encephalop... OMIM:615228
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hepatic... ORPHA:71212
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Infantile encephalopathy, Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakn... ORPHA:254875
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Progres... OMIM:607426
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr... OMIM:300696
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Diabetes mellitus, Supraventricular arrhythmia, Optic atrophy, Cardiomyopathy, Leg muscle stiffne... ORPHA:320360
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Arrhythmia ORPHA:35
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Elevated circulating creatine kinase concentrati... OMIM:608807
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... OMIM:181350
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, M... OMIM:615595
Developmental And Epileptic Encephalopathy 97
Poor head control, Hypsarrhythmia, Epileptic encephalopathy OMIM:619561
Distal Myotilinopathy
Multiple joint contractures, Elevated circulating creatine kinase concentration, Progressive dist... ORPHA:98911
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Encephalopathy, Hepatosplenomegaly OMIM:610329
Myopathy, Myofibrillar, 1
Bulbar palsy, Distal muscle weakness, Facial palsy, Respiratory insufficiency due to muscle weakn... OMIM:601419
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Encephalopathy OMIM:618224
Mitochondrial Complex I Deficiency, Nuclear Type 8
Decreased activity of mitochondrial complex I, Optic disc pallor, Pancreatitis, Encephalopathy OMIM:618230
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, External ophthalmoplegia, Congestive heart fail... ORPHA:225
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Decreased activity of mit... ORPHA:17
Frontotemporal Dementia With Motor Neuron Disease
Bulbar palsy, Distal muscle weakness, Proximal muscle weakness, Abnormal mitochondrial morphology... ORPHA:275872
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Poor head control, Facial palsy, Ankle flexion contracture, ... OMIM:617519
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic acidur... ORPHA:289504
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Hyperprolinemia, Cardiomyopathy, Pulmonar... OMIM:619003
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Progressive external ophthalmoplegia, Decreased mitochondrial number, Elevated circulating creati... ORPHA:352447
Cerebral Creatine Deficiency Syndrome 3
Gowers sign, Organic aciduria OMIM:612718
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Poor head control, Decreased nerve conduction velocity, Sensorineural he... OMIM:614932
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, El... OMIM:201475
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... OMIM:610198
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Micropenis, Hydrocele testis, Hypocholesterolemia, Hypertrophic cardiomyopathy, Enc... OMIM:618810
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Dpm3-Cdg
Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystroph... ORPHA:263494
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Encephalopathy OMIM:616647
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Cardiomyopathy, Distal amyotrophy, Distal muscle weakness OMIM:610100
Combined Oxidative Phosphorylation Deficiency 20
Progressive external ophthalmoplegia, EEG with burst suppression, Decreased activity of mitochond... OMIM:615917
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Abnormal pinna morphology, D... OMIM:615471
Hsd10 Disease, Infantile Type
Poor head control, Hypoglycemia, Nonprogressive encephalopathy, Cardiomegaly, Optic atrophy, Abno... ORPHA:391428
Developmental And Epileptic Encephalopathy 70
Poor head control, Cryptorchidism, Flexion contracture, Hypsarrhythmia, Epileptic encephalopathy,... OMIM:618298
Developmental And Epileptic Encephalopathy 30
Encephalopathy, Hypsarrhythmia, Epileptic encephalopathy OMIM:616341
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Ventricular hypertrophy, Increased urine succinate level, Hypoglyc... OMIM:619048
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Aminoaciduria, Galactosur... OMIM:230350
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Gowers sign, Cardiomyopathy,... OMIM:617336
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Optic disc pallor, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dy... OMIM:619167
Squalene Synthase Deficiency
Bicuspid aortic valve, Hypospadias, Posteriorly rotated ears, Increased circulating farnesol conc... OMIM:618156
Patent Ductus Venosus
Hyperammonemia, Congenital portosystemic venous shunt, Hepatic encephalopathy, Hypergalactosemia,... OMIM:601466
Mitochondrial Complex I Deficiency, Nuclear Type 29
Proximal muscle weakness, Lacticaciduria, Stage 5 chronic kidney disease, Abnormal heart morpholo... OMIM:618250
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra... OMIM:255160
Mitchell Syndrome
Respiratory insufficiency due to muscle weakness, Limb muscle weakness, Abnormal autonomic nervou... OMIM:618960
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... OMIM:256550
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Neurogenic bladder, Thenar muscle atrophy, Mitochondrial hypertroph... OMIM:500013
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:611615
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Hepatic encephalopath... ORPHA:890
Myopathy, Myofibrillar, 6
Scapular winging, Distal muscle weakness, Facial palsy, Elevated circulating creatine kinase conc... OMIM:612954
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Vertigo, Ophthalmoplegia, Left ventricular hyp... OMIM:614458
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Lacticaciduria, H... OMIM:619063
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Potocki-Lupski Syndrome
Abnormal renal morphology, EEG abnormality, Hypocholesterolemia, Atrial septal defect, Patent for... OMIM:610883
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... OMIM:602390
Ethanolaminosis
Cardiomegaly OMIM:227150
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Centrally nucleated... ORPHA:86812
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit... ORPHA:319514
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria... ORPHA:369
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Proximal muscle weak... OMIM:251900
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... OMIM:261680
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance ORPHA:1875
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperalaninemia, Decreased activity of the pyruvate dehydrogenase complex, Lacticaciduria, Hyperp... ORPHA:79246
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, C... OMIM:612999
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis... ORPHA:157
Developmental And Epileptic Encephalopathy 45
Hypsarrhythmia, Epileptic encephalopathy OMIM:617153
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
2,4-Dienoyl-Coa Reductase Deficiency
Poor head control, Ophthalmoplegia, Optic atrophy, Hyperlysinuria, Decreased plasma free carnitin... OMIM:616034
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... ORPHA:308552
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Progressive distal muscl... OMIM:609452
Developmental And Epileptic Encephalopathy 60
EEG with burst suppression, Hypsarrhythmia, Epileptic encephalopathy OMIM:617929
Melas
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Abnormal mitochondria in m... ORPHA:550
Childhood-Onset Nemaline Myopathy
Scapular winging, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar ... ORPHA:171439
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:300376
Developmental And Epileptic Encephalopathy 59
Hypsarrhythmia, Multifocal epileptiform discharges, Poor head control, Epileptic encephalopathy OMIM:617904
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Proximal Myopathy With Extrapyramidal Signs
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes ... ORPHA:401768
Developmental And Epileptic Encephalopathy 7
EEG with burst suppression, Epileptic encephalopathy OMIM:613720
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, M... OMIM:619518
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Decreased activity of mitochondrial complex... ORPHA:506
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Dicarboxylic aciduria, Hypo... OMIM:212138
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... OMIM:613070
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ophthalmoplegia, Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy, Abnormality of the liver, Abnormal concentration of acylcarnitine in... ORPHA:391457
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Optic neuropathy,... OMIM:610505
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased activity of mitochondrial co... OMIM:619064
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Multifocal epileptiform discharges, EEG with focal epilepti... ORPHA:599373
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Left ventricular noncompaction ... OMIM:619424
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Epileptic encephalopathy, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Hearing impa... ORPHA:67048
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Encephalopathy OMIM:605899
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Distal muscle weakness, Elevated circulating creatine kinase concentration, Proximal muscle weakn... ORPHA:52430
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Multifocal epileptiform discharges, Cardiomyopat... OMIM:608540
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Generalized muscle weakness, Flexion cont... ORPHA:171433
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Decreased activity of mitochondrial ATP synthase complex, Flexion contracture, Rena... OMIM:604273
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Incre... OMIM:235200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... OMIM:608836
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Epileptic encephalopathy OMIM:617830
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De... OMIM:616299
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle fibers, Decreased activity of mi... OMIM:124000
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Distal muscle weakness, Abnormality of the musculature of the lower limbs, Urin... ORPHA:329478
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... ORPHA:228308
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Fle... OMIM:212065
Episodic Ataxia, Type 9
Paroxysmal vertigo, Vertigo, Encephalopathy OMIM:618924
Developmental And Epileptic Encephalopathy 69
Hypsarrhythmia, Epileptic encephalopathy, EEG abnormality, Congenital contracture, Arthrogryposis... OMIM:618285
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration,... OMIM:266510
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Gowers sign, Cholecystitis, Hepatic s... ORPHA:98908
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Proximal musc... ORPHA:254886
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Prox... ORPHA:34515
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
EEG with abnormally slow frequencies, Congestive heart failure, Decreased activity of mitochondri... ORPHA:70472
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Di... ORPHA:79159
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... OMIM:609500
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Decreased activity of mitochondrial complex II,... OMIM:613642
Brown-Vialetto-Van Laere Syndrome 2
Bulbar palsy, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Organic aciduria, Ne... OMIM:614707
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... OMIM:615751
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Decreased activity of mitochondrial complex IV, Generalized... OMIM:212350
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elevated circulating creatine kinase concentration, Proximal muscle weakness, Congestive heart fa... ORPHA:206546
Danon Disease
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Cardiomegaly,... OMIM:300257
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentrati... OMIM:612073
Infantile Refsum Disease
Hepatomegaly, Facial palsy, Progressive muscle weakness, Sensorineural hearing impairment, Elevat... ORPHA:772
Developmental And Epileptic Encephalopathy 62
Hypsarrhythmia, Epileptic encephalopathy OMIM:617938
Hyperekplexia 4
Flexion contracture, Hypsarrhythmia, Distal arthrogryposis, Camptodactyly, Encephalopathy OMIM:618011
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Prox... OMIM:615352
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Ragged-red muscle fibers, Decreased acti... OMIM:252010
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Neck flexor weakness, Abnormal atr... ORPHA:329336
Mitochondrial Complex I Deficiency, Nuclear Type 26
Lacticaciduria, EEG abnormality, Distal amyotrophy, Limb hypertonia, Decreased activity of mitoch... OMIM:618247
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb... OMIM:609308
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Progressive external ophthalmoplegia, Diabetes mellitus, Lim... ORPHA:1215
Sarcosinemia
Peroneal muscle weakness, Optic atrophy, Hypersarcosinemia, Infantile sensorineural hearing impai... ORPHA:3129
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypogl... ORPHA:276580
Spinocerebellar Ataxia, Autosomal Recessive 31
External ophthalmoplegia, Optic atrophy, Bilateral sensorineural hearing impairment, Muscle weakn... OMIM:619422
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Ventricular hypertrophy, Posteriorly rotated ears, Elevated circul... OMIM:300280
Developmental And Epileptic Encephalopathy 53
Hypsarrhythmia, Elevated circulating creatine kinase concentration, Epileptic encephalopathy OMIM:617389
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
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, De... OMIM:615453
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Ophthalm... ORPHA:79101
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Decre... OMIM:619170
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension, Myopathy,... ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 17
Decreased activity of mitochondrial complex I, Congestive heart failure, Hypertrophic cardiomyopa... OMIM:615440
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Elevated circulating creatine kinase concentration, Chronic kidney disease, Decreased activity of... ORPHA:324525
Mitochondrial Complex I Deficiency, Nuclear Type 22
Decreased activity of mitochondrial complex I, Hypertrophic cardiomyopathy, Poor head control OMIM:618243
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Epileptic encephalopathy, Prolonged neonatal jaundice OMIM:618512
Endocardial Fibroelastosis
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypoglycemia, Cryptorchidism, Congestive ... ORPHA:2022
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hearing impairmen... OMIM:208085
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Optic atrophy, Ophthalmoparesis, Myopathy, Progressive encephalopathy, Hyp... ORPHA:254881
Developmental And Epileptic Encephalopathy 15
Hypsarrhythmia, Epileptic encephalopathy OMIM:615006
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Encephalopathy OMIM:610090
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Fatal liver failure in infancy, Renal insufficiency, Progressive external ophthal... ORPHA:254857
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Hearing impairment, Pro... OMIM:211530
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Abnormality of mitochondrial metabolism, Hypsarrhythmia, Tetralogy of Fallot, Enc... ORPHA:88639
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Ophthalmoplegia, Optic atrophy, Increased variability in mus... OMIM:125250
Lennox-Gastaut Syndrome
EEG abnormality, EEG with focal sharp slow waves, Encephalopathy ORPHA:2382
Combined D-2- And L-2-Hydroxyglutaric Aciduria
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Increased urine succinate level,... OMIM:615182
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:611182
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Decreased activity of mitochondrial complex IV, Multifocal epil... OMIM:616672
Combined Oxidative Phosphorylation Deficiency 57
Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Sensorineural hearing impairment, ... OMIM:620167
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Acute encephalopathy OMIM:618113
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Nonprogressive encephalopathy, Optic atrophy, Abnormal ur... ORPHA:391417
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Decreased activity of mitochondrial complex IV, Dilated cardiomyopathy,... OMIM:616198
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, 3-Methylglutaconic... OMIM:614739
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, G... ORPHA:436271
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Decreased activity of mitochondrial respirator... OMIM:605711
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Telangiectasia of the skin, Vertigo, Optic atrophy, Telangiectasia, Generalized amy... ORPHA:79279
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Necrotizing encephalopathy OMIM:260970
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Decreased ac... OMIM:620135
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Elevated jugular venous pressure, Decreased ... ORPHA:465508
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Flexion contracture, Epileptic encephalopathy OMIM:618379
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperam... OMIM:246450
Developmental And Epileptic Encephalopathy 63
Conductive hearing impairment, Poor head control, EEG with generalized epileptiform discharges, E... OMIM:617976
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Sensorineural hearing impairment, Ca... ORPHA:93476
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Progressive external ophthalmoplegia, Skeletal muscle atrophy, Distal muscle weakness, Elevated c... OMIM:258450
Diabetes And Deafness, Maternally Inherited
Abnormal vestibular function, External ophthalmoplegia, Sensorineural hearing impairment, Vertigo... OMIM:520000
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Elevated circulating acylcarnitine concentration, External ophthalmoplegia, De... OMIM:615838
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Acute encephalopathy, Bradycardia, Muscle weakness OMIM:609924
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Decreased activi... OMIM:614702
Aicardi-Goutieres Syndrome 2
Encephalopathy OMIM:610181
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Multiple glomerular cysts, Cardiac conduction abnormality, Abnormality of Krebs cyc... ORPHA:255210
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystro... OMIM:309930
D-2-Hydroxyglutaric Aciduria 1
Infantile encephalopathy, Aortic regurgitation, Glutaric aciduria, Hypsarrhythmia, Cardiomyopathy... OMIM:600721
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Hearing impairment ORPHA:858
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Decreased nerve conduction velocity, Hyperammonemia, Hyperornithinemia, Acute encep... OMIM:238970
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Diabetes mellitus, Distal muscle weaknes... ORPHA:456312
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Decreased activity of the py... OMIM:616277
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Increased level of hippuric acid in urine, Cerebellar hemorrhage, Hyp... OMIM:606054
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in sk... OMIM:614654
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Abnormality of the kidney, Campto... ORPHA:1194
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Chronic hepatic encephalop... OMIM:271500
Intellectual Developmental Disorder, Autosomal Dominant 46
Epileptic encephalopathy OMIM:617601
Intellectual Developmental Disorder, Autosomal Dominant 5
EEG abnormality, Torticollis, Congenital muscular torticollis, Epileptic encephalopathy OMIM:612621
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly... OMIM:614921
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro... OMIM:613404
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, EMG: myopathic abnormalities, M... ORPHA:71
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... OMIM:615418
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, De... ORPHA:276575
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy, Poor head control OMIM:619651
Fumarase Deficiency
Bilateral fetal pyelectasis, Decreased fumarate hydratase activity, Increased urine succinate lev... OMIM:606812
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ketonur... ORPHA:20
Severe Neonatal-Onset Encephalopathy With Microcephaly
EEG with focal slow activity, Multifocal epileptiform discharges, Encephalopathy ORPHA:209370
Cach Syndrome
Flexion contracture, Optic atrophy, Renal hypoplasia, Nonketotic hyperglycinemia, Hepatosplenomeg... ORPHA:135
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating cre... ORPHA:96180
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli... ORPHA:1667
Developmental And Epileptic Encephalopathy 107
Epileptic encephalopathy OMIM:620033
Developmental And Epileptic Encephalopathy 88
Hyperglutamatemia, Hypsarrhythmia, Epileptic encephalopathy OMIM:618959
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Optic atrophy, Hypsarrhythmia, Epileptic encephalopathy, Cardiomyopathy, Decre... OMIM:618437
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent... ORPHA:79095
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Cerebral ischemia, Hyperal... ORPHA:927
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... OMIM:616878
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Elevated circulating c... ORPHA:368
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Sensorineur... OMIM:249270
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture, Decreased activity of the pyruvate dehydrogenase ... OMIM:614462
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98853
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Abnormality of the mi... ORPHA:91130
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog... ORPHA:264580
Developmental And Epileptic Encephalopathy 12
Hypsarrhythmia, Epileptic encephalopathy OMIM:613722
Combined Oxidative Phosphorylation Deficiency 35
Decreased activity of mitochondrial complex I, EEG abnormality, Decreased activity of mitochondri... OMIM:617873
Glutaric Acidemia I
Infantile encephalopathy, Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circ... OMIM:231670
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Joint contracture, Optic atrophy, Epileptic encephalopathy OMIM:618324
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy,... ORPHA:445038
Folinic Acid-Responsive Seizures
Sensorineural hearing impairment, Encephalopathy, Optic atrophy, Multifocal epileptiform discharg... ORPHA:79097
Ravine Syndrome
Progressive encephalopathy, Abnormal auditory evoked potentials ORPHA:99852
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Distal... OMIM:601596
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Hep... OMIM:616483
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... ORPHA:79230
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizure... ORPHA:276556
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Diabetes mellitus, Proximal muscle weakness, Progressive mu... OMIM:609286
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Hearing impairment OMIM:620270
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Encephalopathy OMIM:616636
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Macrotia, Encephalopathy OMIM:617268
Multiple Mitochondrial Dysfunctions Syndrome 6
Poor head control, Optic atrophy, Hearing impairment, Epileptic encephalopathy OMIM:617954
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegal... ORPHA:14
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Classic Glucose Transporter Type 1 Deficiency Syndrome
EEG abnormality, Encephalopathy ORPHA:71277
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... ORPHA:565612
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Arth... OMIM:232500
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Splenomegaly, Sensorineural hearing impairment, Hyperprolinemia, Cardio... OMIM:619046
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Sensorineural hearing impairment, Elevated circulating ph... OMIM:266500
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphr... ORPHA:868
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... OMIM:269920
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
Abnormal circulating carnitine concentration, Renal tubular acidosis, Organic aciduria, Decreased... ORPHA:431361
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Hypoglycemia, Optic atrophy, Hyperammonemia, Decreased activity of mitochondrial com... OMIM:618253
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Infantile encephalopathy ORPHA:263410
Desminopathy
Neck flexor weakness, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficienc... ORPHA:98909
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Jaundice, Hepatic fail... ORPHA:79239
Mitochondrial Dna Depletion Syndrome 11
Progressive external ophthalmoplegia, Elevated circulating creatine kinase concentration, Facial ... OMIM:615084
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Progressive distal muscle weakness, Congestive heart failure, Generalize... ORPHA:746
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Encephalopathy OMIM:619028
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Encephalopathy ORPHA:357225
Developmental And Epileptic Encephalopathy 11
Epileptic encephalopathy OMIM:613721
Schimke Immuno-Osseous Dysplasia
Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu... ORPHA:1830
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Epileptic encephalopathy, Abnormal cardia... OMIM:608776
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Lacticaciduria, Distal amy... OMIM:618811
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Abnormal autonomic nervous system physiolog... ORPHA:85447
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Sudden cardia... ORPHA:156
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
EEG abnormality, Epileptic encephalopathy OMIM:617820
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98863
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating creatine kinase concentration, Cardiomegaly, Gowers sign, Flexion contractur... ORPHA:365
Developmental And Epileptic Encephalopathy 23
Supravalvular aortic stenosis, Abnormal pinna morphology, Hypsarrhythmia, Epileptic encephalopathy OMIM:615859
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, S... OMIM:220110
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Sensor... ORPHA:98907
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Glycogen Storage Disease Due To Lamp-2 Deficiency
Muscle flaccidity, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Abnormal l... OMIM:613155
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Elevated circulating creatine kinase concentration, Gowers sign, Cardiomyopathy, Myopathy, Calf m... ORPHA:119
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased serum pyruvate, Hyperalaninemia, EEG abnormality, Encephalopathy OMIM:617668
Developmental And Epileptic Encephalopathy 55
Poor head control, Flexion contracture, Multifocal epileptiform discharges, Hypsarrhythmia, Epile... OMIM:617599
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Proximal muscle... OMIM:601455
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Early Myoclonic Encephalopathy
EEG abnormality, Hypsarrhythmia, Epileptic encephalopathy ORPHA:1935
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... ORPHA:860
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Abnormal pinna morphology, Glutaric aciduria, Jaundice, Electron tran... OMIM:231680
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal di... ORPHA:79083
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Vertigo, Optic atrophy, Cardiomyopathy, 3-Methylglutaconi... OMIM:619259
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy OMIM:607685
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n... OMIM:615578
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Flexion contracture, Posteriorly rotated ears, Low-set ears, Encephalopathy OMIM:616281
Mitochondrial Complex I Deficiency, Nuclear Type 10
Decreased activity of mitochondrial complex I, External ophthalmoplegia, Optic atrophy, Encephalo... OMIM:618233
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
D-Glyceric Aciduria
Hypoglycemia, Optic nerve hypoplasia, Sensorineural hearing impairment, Nonketotic hyperglycinemi... OMIM:220120
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Peho-Like Syndrome
Infantile encephalopathy, Optic atrophy, Hypsarrhythmia OMIM:617507
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Lower limb hypertonia, Generalize... ORPHA:1177
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Proximal muscle weak... ORPHA:98896
Developmental And Epileptic Encephalopathy 102
Atrial septal defect, Hepatomegaly, Epileptic encephalopathy, Situs inversus totalis OMIM:619881
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Decreased activity of mitochondrial ATP synthase complex, Hypospadias, Cryptorchidism, Hyperammon... OMIM:614052
X-Linked Neurodegenerative Syndrome, Bertini Type
Epileptic encephalopathy ORPHA:85334
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Epileptic encephalopathy OMIM:615338
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Congestiv... ORPHA:615
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinuria, Nonketotic hyperglycinemia, Hypergl... ORPHA:941
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... ORPHA:1909
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:230400
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, External op... ORPHA:485421
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... ORPHA:100924
Scleromyxedema
Distal muscle weakness, Transient ischemic attack, Elevated circulating creatine kinase concentra... ORPHA:167635
Amyloidosis, Finnish Type
Renal insufficiency, Bulbar palsy, Cardiomyopathy, Nephrotic syndrome, Cardiac amyloidosis OMIM:105120
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Poor head control, Skeletal muscle atrophy, Abnormal atrioventricul... ORPHA:3208
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... OMIM:310200
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Optic disc pallor, Aciduria, Calcium oxalate nephro... ORPHA:416
Hydroxykynureninuria
Tachycardia, Abnormal circulating tryptophan concentration, Congenital sensorineural hearing impa... ORPHA:79155
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph... ORPHA:79086
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98855
Combined Oxidative Phosphorylation Deficiency 5
Decreased activity of mitochondrial ATP synthase complex, Posteriorly rotated ears, Decreased act... OMIM:611719
Developmental And Epileptic Encephalopathy 57
Hypsarrhythmia, Epileptic encephalopathy OMIM:617771
Friedreich Ataxia
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Decreased pyruvate carb... OMIM:229300
Schilder Disease
Vertigo, Muscle weakness, Encephalopathy ORPHA:59298
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Tubulo... ORPHA:358
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Poor head control, Decreased nerve conduction vel... ORPHA:206436
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I... ORPHA:136
Alg1-Cdg
Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Cardiomyopathy, Nephro... ORPHA:79327
Developmental And Epileptic Encephalopathy 92
EEG abnormality, Epileptic encephalopathy OMIM:617829
Alg12-Cdg
Elevated hepatic transaminase, Hyponatremia, Hypospadias, Abnormal pinna morphology, Cryptorchidi... ORPHA:79324
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Diaphragmatic eventrat... ORPHA:66634
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Hypoglycemia, Renal insuffi... ORPHA:79282
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Hyperammonemia, Cardiomyopathy, P... ORPHA:79312
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Proximal muscle weakness in upper limbs... ORPHA:101085
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac... OMIM:614922
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Poor head control, Elevated circulating creatine kinase concentrat... ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 55
Progressive external ophthalmoplegia, Stage 3 chronic kidney disease, Skeletal muscle atrophy, El... OMIM:619743
Developmental And Epileptic Encephalopathy 33
Hypsarrhythmia, Epileptic encephalopathy OMIM:616409
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Epileptic encephalopathy OMIM:618328
Developmental And Epileptic Encephalopathy 40
Hypsarrhythmia, Epileptic encephalopathy OMIM:617065
Glutamine Deficiency, Congenital
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Low-set ears, Camptodactyly, ... OMIM:610015
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Hepatomegaly, Cardiac arrest, Myofiber disarray, Decreased activity of ... OMIM:604377
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Proximal muscle weakness in upper limbs, Scapular winging, Neck flexor weakness, El... ORPHA:268
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic disc pallor, Skeletal muscle atrophy, Optic atrophy, Decreased activity of mitochondrial co... OMIM:618228
Developmental And Epileptic Encephalopathy 26
Hypsarrhythmia, Epileptic encephalopathy OMIM:616056
Non-Specific Early-Onset Epileptic Encephalopathy
Poor head control, Optic atrophy, EEG with multifocal slow activity, Hypsarrhythmia, Limb hyperto... ORPHA:442835
Al Amyloidosis
Increased circulating NT-proBNP concentration, Abnormality of the liver, Hypoalbuminemia, Hepatom... ORPHA:85443
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Hyperammonemia, Encephalopathy OMIM:610678
Developmental And Epileptic Encephalopathy 43
Hypsarrhythmia, Epileptic encephalopathy OMIM:617113
Developmental And Epileptic Encephalopathy 27
Hypsarrhythmia, Epileptic encephalopathy OMIM:616139
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Hypoalbuminemia, Generalized amyotrop... ORPHA:171
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:609015
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Poor head control, Epileptic encephalopathy, Darwin tubercle of helix, Type 1 muscle fiber predom... OMIM:612949
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape OMIM:610773
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy