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Gene: Mrps34 MGI:1930188

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mitochondrial ribosomal protein S34
Synonyms:
0610007F04Rik,  5330430D13Rik,  Tce2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Mrps34 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 Mrps34 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Oxidative Phosphorylation Deficiency 32
Joint contracture OMIM:617664

The table below shows human diseases predicted to be associated to Mrps34 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:301075
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Mildly eleva... OMIM:160150
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... OMIM:613530
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Foot dorsiflexor weak... OMIM:618400
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T... OMIM:614807
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618992
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... OMIM:605820
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617072
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased mitoc... ORPHA:457050
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Myopathy, Weakness of facial... OMIM:617030
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Skeletal muscle atrophy, Splenomega... OMIM:616719
Splenoportal Vascular Anomalies
Hepatic fibrosis, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... OMIM:609115
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:604765
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase ... OMIM:609500
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase OMIM:604454
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Calf muscle hypertrophy, Hypertriglyceridemia, Hypertension ORPHA:280356
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Azoospermia, Increased LDL cholesterol concentration, Hepatic steatosis... OMIM:615703
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Abnormal circulating creatine... OMIM:615959
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Patent Ductus Venosus
Persistent patent ductus venosus, Congenital portosystemic venous shunt, Decreased liver function... OMIM:601466
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas... OMIM:619048
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function, Ventricular septal defect ORPHA:306550
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Muscular... ORPHA:369840
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, Extremely elevated creatine kinase, Mild... ORPHA:171445
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype... OMIM:201475
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Generalized limb muscle atrophy, Acute hepatic failure, Hepatosplenomegaly, Dis... ORPHA:466794
Distal Myopathy, Welander Type
Rimmed vacuoles, Mildly elevated creatine kinase, Distal upper limb amyotrophy, Foot dorsiflexor ... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Increased circul... ORPHA:79230
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... OMIM:619111
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva... OMIM:609524
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... OMIM:618955
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform,... OMIM:302045
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hyperammonemia, ... OMIM:600649
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Hypertro... OMIM:212140
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ... OMIM:619902
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... OMIM:500009
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Dil... ORPHA:263494
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Arrhythmia, Cirr... OMIM:606069
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Type 1 fibers relatively smal... OMIM:255310
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Cardiomyopat... OMIM:613752
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis OMIM:176090
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip... OMIM:615980
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hyper... OMIM:619386
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Cholestasis, Hypertrophic cardiomyopathy, Situs inver... OMIM:615382
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Myopathy, Hepatic steatosis, Cardiomyopathy ORPHA:26792
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El... OMIM:613812
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... ORPHA:270
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... OMIM:608807
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ... ORPHA:169186
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:42
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Decreased liver function, Portal ... ORPHA:79319
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... OMIM:615415
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating al... OMIM:618805
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... OMIM:620454
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ... OMIM:618234
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Abnormality of the liver, Increased muscle lipid c... ORPHA:254864
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port... OMIM:617394
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Elev... OMIM:614300
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Adams-Oliver Syndrome 6
Hepatic fibrosis, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Truncus arteriosus,... OMIM:616589
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:264580
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At... OMIM:212138
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy OMIM:615119
Ethanolaminosis
Cardiomegaly OMIM:227150
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... OMIM:600334
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... OMIM:255200
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E... OMIM:248800
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Cirrhosis, Elevated ju... ORPHA:57777
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... ORPHA:52430
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Elevated... OMIM:615368
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Limb hypertonia, Hepatic steatosis OMIM:615918
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Splenomeg... OMIM:606003
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertension ORPHA:79084
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hypertension, Hepatic steatosis, Skeletal muscle hypertrophy OMIM:613877
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Elevated circulating creatin... OMIM:609452
Dpm1-Cdg
Hepatic fibrosis, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, He... ORPHA:79322
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congest... ORPHA:98908
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... ORPHA:79240
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Myopathy,... ORPHA:79083
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Cholestasis, Elevated... OMIM:615486
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat... OMIM:619481
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo... OMIM:617872
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... OMIM:617069
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta... ORPHA:53035
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly OMIM:619858
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Dilated ... OMIM:615895
Senior-Loken Syndrome
Hypertension, Congenital hepatic fibrosis ORPHA:3156
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho... OMIM:208540
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... OMIM:614582
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Ventricular septal defect, Hepatome... OMIM:615630
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ... OMIM:264470
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi... ORPHA:353
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated c... OMIM:617093
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Mildly elevated creatine kinase, Intrinsic hand m... ORPHA:399086
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase... OMIM:614921
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase... OMIM:610198
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Hypertension, Increased C-peptide level OMIM:615238
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lower... OMIM:619487
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Cirrhosis, Hepatomegaly OMIM:602579
Central Core Disease
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... ORPHA:597
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased muscle mass, ... OMIM:619013
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat... OMIM:607459
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia OMIM:617341
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creati... OMIM:603511
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Acquired Partial Lipodystrophy
Hepatic steatosis, Myopathy ORPHA:79087
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Myopathy, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, Hypertension ORPHA:363400
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Myopathy,... ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling, Elevated circulating aspa... OMIM:615595
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti... ORPHA:860
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Hepatic steatosis, Ventricular sep... OMIM:615996
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven... OMIM:115197
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Coach Syndrome 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct... OMIM:216360
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele... OMIM:610099
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Low plasma citrulli... OMIM:261680
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Cirrhosis, Hypercholest... ORPHA:528
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme... OMIM:263200
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... ORPHA:98907
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Dominant Beta-Thalassemia
Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Abnormality of iron home... ORPHA:231226
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Abnormal heart morphology, Hypertrophic cardi... ORPHA:70472
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Abnormal circulating lipid concentration OMIM:608709
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Lipe-Related Familial Partial Lipodystrophy
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Hepatic steatos... ORPHA:435660
Joubert Syndrome 9
Hepatic fibrosis OMIM:612285
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Congenital Macroglossia
Abnormal hepatic glycogen storage, Macroglossia ORPHA:2430
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C... ORPHA:79303
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Calf muscle hypertrophy, Pancreatitis, Hypertriglyceridemia, Hepatomegaly, Ske... ORPHA:435651
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,... OMIM:231530
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... ORPHA:84081
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Telangiectasia of the... OMIM:615381
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Cholestasis, Tricuspid r... ORPHA:615
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98855
Glycogen Storage Disease Ixb
Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle g... OMIM:261750
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Triceps weakness, Foot... OMIM:619574
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Beta-Thalassemia Major
Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Abnormality of iron home... ORPHA:231214
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Ele... OMIM:602541
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Increased serum... OMIM:619377
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardi... OMIM:212065
Laurence-Moon Syndrome
Congenital hepatic fibrosis ORPHA:2377
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatic fibrosis, Hepatic failure, Hypoalbuminemia, Hypermethioninemia, Inc... OMIM:222470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... OMIM:608836
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal circulating lipid concentration, Abnormal cardiovascular system physiolo... ORPHA:79086
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98853
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp... OMIM:610717
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis OMIM:616629
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Decreased plas... ORPHA:228308
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Cholestasis, Tricuspid regurgitation, Lower limb muscle... ORPHA:746
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98863
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Pulmonary... OMIM:619064
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hepatic steatosis, Hyperuricemia, Cirrhosis, Hypertrigly... OMIM:604367
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation... OMIM:613205
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema... ORPHA:2137
Donohue Syndrome
Cholestasis, Hepatic fibrosis, Skeletal muscle atrophy, Pancreatic islet-cell hyperplasia OMIM:246200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Ragged-red muscle... ORPHA:298
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cyano... ORPHA:555874
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulat... OMIM:615418
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria OMIM:601539
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Gastrointestinal hemorrhage, Cholestasis, Hepatosplenomega... ORPHA:731
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu... OMIM:301068
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:275761
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinase concent... OMIM:123320
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, Weakn... ORPHA:352447
Argininosuccinic Aciduria
Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, ... OMIM:207900
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, In... ORPHA:324604
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Syndromic Diarrhea
Aortic regurgitation, Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormali... ORPHA:84064
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly, Conjugated hyperbilirubinemia OMIM:269920
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Eleva... OMIM:607330
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... OMIM:201450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Skeletal muscle fibrosis,... OMIM:616263
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Decr... ORPHA:280365
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi... OMIM:232300
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:333
Dysbetalipoproteinemia
Tendon xanthomatosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... ORPHA:412
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter... ORPHA:610
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia ORPHA:79085
Meckel Syndrome 14
Hepatic fibrosis, Tricuspid regurgitation, Mitral regurgitation, Cyanosis, Single ventricle OMIM:619879
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Increased circulating ferritin c... ORPHA:465508
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperlipidemia, Mitral regurgitation, Hepatic steatosis, Ventricular septal... ORPHA:254346
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Hepatocellular necrosis, Choles... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Decreased liver function, Hepatic steatosis, Myopathy, Hepatomegaly OMIM:614922
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myopathy, Elevated circu... OMIM:617713
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:620376
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,... ORPHA:681
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... OMIM:619170
Joubert Syndrome With Hepatic Defect
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge... ORPHA:1454
Scleroderma, Familial Progressive
Telangiectasia, Chromosome breakage, Abnormality of chromosome stability, Calcinosis OMIM:181750
Cap Myopathy
Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Mi... ORPHA:171881
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Tetralogy of Fallot, Portal hypertension, Abnormal pulmonary valve m... ORPHA:974
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Ragged-red muscle fib... OMIM:614924
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:300536
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Hepatic steatosis, Mitral valve prolapse, Pancreatitis, Hyperhomocystinemia, ... OMIM:236200
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Mednik Syndrome
Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concentration, Ci... OMIM:609313
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary insufficiency, Bile duct proliferation, Pancreatic fibrosis, Jaundice... OMIM:208500
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Cardiomegaly ORPHA:858
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR interval, Cardiomegaly,... ORPHA:308552
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... OMIM:124000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib... OMIM:619534
Seckel Syndrome 10
Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas... OMIM:617253
Dilated Cardiomyopathy With Ataxia
Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent... ORPHA:66634
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Dilated cardiomyopathy OMIM:613989
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Elevated circula... OMIM:620609
Adrenomyodystrophy
Hepatic steatosis, Myopathy ORPHA:977
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Increased variability in muscle fiber diameter, Elevated circulatin... ORPHA:17
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Atrioventricular block, Complete heart block with narrow ... ORPHA:1677
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hepatic ste... ORPHA:348
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney OMIM:200995
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Hyperammonemia, Ca... OMIM:619051
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Atrial sept... OMIM:617303
Familial Chylomicronemia Syndrome
Pulmonary embolism, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlip... ORPHA:444490
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Left ventricular hypertrophy, Hypertension, Biliary tract abnormality OMIM:209900
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis OMIM:614091
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Cholelithiasis, Hyperbilirubinemia, Cholecystitis... OMIM:611881
Nephronophthisis 3
Hepatic fibrosis, Enlarged kidney OMIM:604387
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradycardia, Pericard... OMIM:614702
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:618329
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... OMIM:231680
Congenital Disorder Of Deglycosylation 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Facial hypotonia, Intr... OMIM:615273
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... OMIM:601005
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Increased intramuscular fat, Hepatic steatosis, Hyperten... OMIM:151660
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Elevated circulating hepatic transaminase concentration, Hepatic ... OMIM:615356
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Exoc... OMIM:620005
Bloom Syndrome
Chromosome breakage, Facial telangiectasia in butterfly midface distribution, Abnormality of chro... OMIM:210900
Monosomy 13Q34
Hematochezia, Epistaxis, Hepatic steatosis, Common atrium, Hypercalcemia, Pulmonic stenosis ORPHA:96168
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Arima Syndrome
Hepatic fibrosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypertension OMIM:243910
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Macroglossia, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hep... OMIM:266920
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb ... OMIM:266500
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Dilated cardiomyopathy, Third degree atrioventricular block, Cholestasis, Elevat... OMIM:619573
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Joubert Syndrome 1
Hepatic fibrosis, Macroglossia OMIM:213300
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Skeletal muscle steatosis, D... ORPHA:436271
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the musculature, Abnormal heart morphology, Tricuspid regurgit... ORPHA:79328
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated ... OMIM:277900
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa... OMIM:261515
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cardiomyopathy ORPHA:445038
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Tricuspid regurgitation, Ventricular septal defect, Atrial septal defect, Pancr... OMIM:263520
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis ORPHA:2031
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:269700
Nephronophthisis 11
Hepatic fibrosis OMIM:613550
Fucosidosis
Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Acrocyanosis ORPHA:349
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice, Hypertens... OMIM:603903
Orofaciodigital Syndrome I
Hepatic fibrosis, Abnormal heart morphology, Hepatic cysts, Pancreatic cysts, Hypertension OMIM:311200
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Increased hepatic glycogen conten... OMIM:619259
Cranioectodermal Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepatic cysts, Hypoc... OMIM:218330
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality... ORPHA:2072
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Generalized muscular app... OMIM:608594
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Multiple joint contractures, Hepatic ste... ORPHA:2959
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hyp... ORPHA:20
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypomag... ORPHA:699
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Abnormal glycosphingolipid metabolism, Cardiomegaly,... OMIM:268800
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hepatitis, Increased circulating ferritin concentration, Hypertrophic c... OMIM:615846
Fanconi-Bickel Syndrome
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... ORPHA:2088
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur ORPHA:99931
Alstrom Syndrome
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart... OMIM:203800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hypertrophic cardiomyopathy, Weakness of facial musculature, Increased ... OMIM:220110
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Hypercapnia, Dilated cardiomyopa... OMIM:164310
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis OMIM:210200
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hyperbiliru... OMIM:229600
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Hepatic steatosis, Congestive heart failure OMIM:616271
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Hyperlipidemia, Hepatic steatosis, Pulmonary venous hypertension, Increased hepatic gl... ORPHA:79259
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Abnormal heart morphology, Camptodactyly of toe, Atrial septal def... OMIM:175700
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... ORPHA:980
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly, Hyperammonemia ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 27
Hyperammonemia, Microvesicular hepatic steatosis OMIM:616672
Bardet-Biedl Syndrome
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... ORPHA:110
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic... ORPHA:99226
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Hepatomegaly OMIM:269860
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hyperlipidemia, Proximal amyotrophy, Hypertension, Hepatic steatosis ORPHA:189427
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Pancreatic hypoplasia, Camptodactyly of finger, Elbow flexion contrac... OMIM:602782
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis OMIM:619273
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Second degree atrioventricular block, Lower limb muscle weakness, Hypomagne... ORPHA:79102
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic stea... OMIM:618278
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient isch... ORPHA:365
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Suprav... ORPHA:391665
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy ORPHA:31
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:613658
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Increased circulating ferritin concentration, Cerebral hemorrhage OMIM:618886
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Dilated cardiomyopathy, Exocrine pan... OMIM:243800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Ogden Syndrome
Torsade de pointes, Hyperbilirubinemia, Ventricular septal defect, Bicuspid aortic valve, Arrhyth... OMIM:300855
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Mitral regurgit... OMIM:619127
Meckel Syndrome
Accessory spleen, Situs inversus totalis, Congenital hepatic fibrosis, Pancreatic fibrosis, Asple... ORPHA:564
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Double Outlet Left Ventricle
Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventr... ORPHA:3427
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Tric... OMIM:620306
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Tetralog... OMIM:619525
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Hip contracture, Microvesicular hepatic steatosis, Knee flexion contra... OMIM:300868
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hypoalbuminemia, Hypertrophic cardiomyopathy, Hypocholesterolemia, Hep... OMIM:270400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... OMIM:617022
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Cardiomegaly, Hyperte... OMIM:208000
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Macroglossia, Increased serum beta-hexosaminidase, Congestive heart failure... OMIM:252500
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Camptodactyly of finger, Abnormal heart valve morpholog... ORPHA:1606
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis mul... OMIM:608013
Aromatase Deficiency
Enlarged polycystic ovaries, Hyperlipidemia, Hepatic steatosis ORPHA:91
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Elevated circulating hepatic transaminase concentration, Congestive heart f... OMIM:619475
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Hip contracture, Ventricular septal defect, H... OMIM:619503
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra... ORPHA:158687
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Skeletal muscle atrophy, Congestive heart fail... ORPHA:79474
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, Hyperammonemia, Microvesicular... OMIM:220111
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Alström Syndrome
Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Oligozoospermia, Hepatomegaly, Abnormal coronar... ORPHA:64
Intellectual Developmental Disorder, Autosomal Dominant 68
Joint contracture of the 5th finger, Hepatic steatosis OMIM:619934
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Fucosidosis
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy OMIM:230000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Congestive hear... OMIM:256040
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatoblastoma, Hepatomega... OMIM:130650
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal mitral... ORPHA:581
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Azotemia, Hepatic steatosis OMIM:619321
Pmm2-Cdg
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:79318
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Patent foramen ovale, Cardi... OMIM:620371
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Congenital contracture, Cardiomegaly, Abnormal cardiac septum m... ORPHA:97297
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... ORPHA:91387
Beckwith-Wiedemann Syndrome
Visceromegaly, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Hypertrophic card... ORPHA:116
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Cyanosis, Ventricular septal defect, Cardiomegaly... ORPHA:95430
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatosplen... ORPHA:51
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Hepatic steatosis, Dysplastic pulmonary valve, Limb hypertonia, Hypertri... ORPHA:3455
Digeorge Syndrome
Cholelithiasis, Tetralogy of Fallot, Splenomegaly, Hepatic steatosis, Ventricular septal defect, ... OMIM:188400
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Macroglossia, Cardiomegaly, Ventricular septal defect ORPHA:96191
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Retina... ORPHA:51608
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... ORPHA:904
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Congenital hepatic fibrosis ORPHA:93271
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... ORPHA:3472
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... OMIM:182250
Combined Oxidative Phosphorylation Deficiency 32
Joint contracture OMIM:617664

Histopathology

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

There is no histopathology data for Mrps34

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mrps34.

No publications found that use IMPC mice or data for Mrps34.

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MGI Allele Allele Type Produced
Mrps34tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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