Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
peroxisomal biogenesis factor 2
Synonyms:
Pxmp3,  PMP35,  Zellweger syndrome homolog,  D3Ertd138e

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Pex2 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 predicted to be associated to Pex2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Cholestatic liver disease, Elevated circulating hepatic tran... OMIM:602114
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Gait disturbance, Imp... OMIM:618400
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Lambert Syndrome
Cholestasis, Intrauterine growth retardation, Intrahepatic biliary atresia, Aplasia/Hypoplasia of... ORPHA:1296
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Cadds
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cholestasis, Intraut... ORPHA:369942
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Hyperlipid... OMIM:232700
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Ataxia, Hepatomegaly, Nephrotic syndrome, Cerebellar vermis hypoplasia, Dilate... OMIM:212065
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Intention tremor OMIM:610539
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnormal circulating... ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Gracile Syndrome
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... OMIM:603358
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Increased level of methylsuccinic acid in urine... ORPHA:26792
Autosomal Dominant Spastic Ataxia Type 1
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Spastic ataxia,... ORPHA:251282
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait, Hepatic steatosis, Cerebellar hypoplasia, Pancreatitis, Elevat... OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Hypocholesterolemia,... OMIM:608776
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Postnatal growth ret... ORPHA:79333
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Abnormal cortical gyration, Proximal tubulopathy, Cerebellar atrophy, ... OMIM:614576
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Cerebral atrophy, Secondary ... OMIM:616672
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Neonatal death, Cerebellar hypoplasia, Dysplastic corpus callosum, Hepatomeg... OMIM:618810
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... ORPHA:382
Combined Oxidative Phosphorylation Deficiency 1
Global brain atrophy, Cholestasis, Intrauterine growth retardation, Fulminant hepatic failure, Ba... OMIM:609060
Argininemia
Portal fibrosis, Cerebellar atrophy, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Postnat... OMIM:207800
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Cerebellar atrophy, Decreased liver function, Cerebellar vermis atrophy, Diffic... ORPHA:512260
Cimdag Syndrome
Cerebellar vermis hypoplasia, Cholelithiasis, Cerebral atrophy, Polymicrogyria, Chorea, Pontocere... OMIM:619273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral atrophy, Di... OMIM:615356
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir... OMIM:619868
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Ce... ORPHA:445038
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hepatic steatosis, Hypertriglyceridemia, Hypercholestero... OMIM:615703
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Incre... OMIM:278000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Distal senso... OMIM:607250
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Hemochromatosis, Neonatal
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin... OMIM:231100
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Cerebral calcification, Abnormal basal ganglia morphology, Hepatic steatos... ORPHA:228308
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatomegaly, Ataxia, Stea... OMIM:266510
Metachromatic Leukodystrophy
Chorea, Reduced leukocyte arylsulfatase A activity, Cholecystitis, Gallbladder dysfunction, Gait ... OMIM:250100
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Intrauterine growth retardation, D... OMIM:619048
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Cerebellar vermis hypoplasia, Hepatic fibrosis, Nephronophthisis, Hepatic... OMIM:615630
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hyperkalemia, Increased total bilirubin... OMIM:618528
Chudley-Mccullough Syndrome
Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, D... OMIM:604213
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Re... OMIM:619386
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol... OMIM:608709
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral atrophy, Ce... OMIM:610333
Huntington Disease-Like 1
Abnormal head movements, Abnormal posturing, Chorea, Gait ataxia, Dysmetria, Gait disturbance, Je... ORPHA:157941
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Hypobetalipoproteinemia, Familial, 1
Ataxia, Hypocholesterolemia, Elevated circulating aspartate aminotransferase concentration, Hyper... OMIM:615558
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Elevated circ... ORPHA:228305
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c... OMIM:615862
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature ORPHA:172
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... OMIM:105200
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Ce... ORPHA:79322
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Gait ataxia, Hypertriglyceridemia, Hepatic steatosis, Limb dystonia, Tremor, Ca... ORPHA:363400
Galactose Mutarotase Deficiency
Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep... ORPHA:570422
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Decreased liver func... OMIM:616299
Fragile X Syndrome
Mandibular prognathia, Abnormal head movements, Recurrent hand flapping, Joint hypermobility, Mac... OMIM:300624
Myopathy With Extrapyramidal Signs
Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Diff... OMIM:615673
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... ORPHA:369
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dys... ORPHA:101070
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Combined Oxidative Phosphorylation Deficiency 21
Cerebral atrophy, Hepatic steatosis, Hypoplasia of the corpus callosum, Neonatal death, Hyperprol... OMIM:615918
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Decreased liver function, Elevated circulating phytanic acid concentration, V... OMIM:614867
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri... OMIM:612526
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Generalized dystonia, Inability to walk, Focal T2 hyperintense basal ga... ORPHA:70472
Peroxisome Biogenesis Disorder 6B
Impaired vibratory sensation, Cerebellar atrophy, Decreased liver function, Elevated circulating ... OMIM:614871
Chylomicron Retention Disease
Hypoalbuminemia, Impaired vibratory sensation, Hypotriglyceridemia, Hypocholesterolemia, Decrease... OMIM:246700
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hepatic fibrosis, Elevated circulating hepatic transaminase concent... OMIM:619111
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Microcephaly, Decreased LDL cholesterol concentration, Delayed puberty, Decr... OMIM:616834
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Dystonia, Reduced circulating acyl-CoA o... OMIM:264470
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Periventricular cysts, ... OMIM:619013
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Cerebellar atrophy, Secondary microcephaly, Exocrine pancreatic insufficiency, ... OMIM:616263
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Increased LDL ... ORPHA:247598
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Renal steatosis, Hepatic steatosis OMIM:261650
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function OMIM:601466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Focal cortical dysplasia, Hypoplasia of the brainstem, Inability to... OMIM:613155
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia ORPHA:71518
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Cerebellar atrophy, Cerebral atrophy, Intrauterine growth retardation, Hepatic steato... OMIM:616271
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Hepat... ORPHA:53693
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Elevated circulating aspartate aminotransferase concentration, Postnat... OMIM:610198
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:613404
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Growt... ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Broad-based gait, Painless fractures due to injury, Cho... OMIM:256810
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct prol... OMIM:208540
Potocki-Lupski Syndrome
Hypocholesterolemia, Hypoplasia of the corpus callosum, Microcephaly, Abnormal renal morphology, ... OMIM:610883
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Positive Romberg sign, Hepatic steatosis, Cirrhosis, Ataxia... ORPHA:14
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of... OMIM:620454
Hyperbiliverdinemia
Cholelithiasis, Green urine, Decreased liver function, Cholestasis, Elevated circulating biliverd... OMIM:614156
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Polymicrogyria, Hypocholesterolemia, Intrauterine growth ret... OMIM:618156
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Seve... ORPHA:440713
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, E... OMIM:605911
Dystonia 31
Difficulty walking, Dysphagia, Abnormal posturing OMIM:619565
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Microcephaly, Bilateral basal ganglia lesions, Hepatic steatosis OMIM:615119
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Acquired Partial Lipodystrophy
Proteinuria, Glomerulopathy, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... OMIM:251880
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased circulating carnitine concentration, Cerebellar atrophy, Organic aciduria, Abnormal cir... ORPHA:431361
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a... OMIM:614866
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Cerebellar atrophy, Secondary microcephaly, Elevated circulating aspart... OMIM:619685
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... OMIM:219080
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati... ORPHA:1414
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:208085
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Cerebral atrophy, Hepatic steatosis, ... OMIM:261680
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Hypocholesterolemia, Postnatal growth retardation, Dysmetria, Abeta... ORPHA:96180
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated... ORPHA:52430
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Increased circulating lactate dehydrogenase concentration, Cerebral atrophy, ... OMIM:619405
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
D-Bifunctional Protein Deficiency
Cerebral hypoplasia, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy,... OMIM:261515
Nephronophthisis 15
Cerebellar vermis hypoplasia, Nephronophthisis, Elevated circulating hepatic transaminase concent... OMIM:614845
Coach Syndrome 1
Unilateral renal agenesis, Cerebellar vermis hypoplasia, Nephronophthisis, Occipital encephalocel... OMIM:216360
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Dysphagia, Somatic sensory dysfunction, Jerky head movements ORPHA:240103
Porphyria Cutanea Tarda
Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ... ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo... OMIM:617872
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:614582
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Type II diabetes mellitus, Progressive gait ataxia, Truncal... ORPHA:247815
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Basal ganglia calcification, Cerebral calcification, Hepa... OMIM:619487
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Arima Syndrome
Hepatic steatosis, Hematuria, Cirrhosis, Tubulointerstitial fibrosis, Ataxia, Hepatomegaly, Renal... OMIM:243910
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Ataxia, Periportal fibrosis, Elevated circulating hepatic transaminase concentrati... OMIM:124000
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran... OMIM:201450
Cog4-Cdg
Frontotemporal cerebral atrophy, Elevated circulating hepatic transaminase concentration, Hepatos... ORPHA:263501
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... OMIM:615438
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr... ORPHA:139507
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... ORPHA:209919
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Tremor, Nephrotic ran... ORPHA:300536
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Bardet-Biedl Syndrome 19
Renal hypoplasia, Renal insufficiency, Hepatic steatosis, Hypoplasia of the corpus callosum, Hydr... OMIM:615996
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Primary Dystonia, Dyt13 Type
Motor stereotypy, Jerky head movements ORPHA:98807
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal... OMIM:614922
Huntington Disease-Like 3
Broad-based gait, Abnormal head movements, Chorea, Progressive gait ataxia, Flexion contracture ORPHA:157946
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Occipital encephalocele, Aplasia/Hypoplasia of the cor... ORPHA:1454
Immunodeficiency 114, Folate-Responsive
Cerebellar atrophy, Cerebral atrophy, Increased circulating ferritin concentration, Postnatal gro... OMIM:620603
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Agenesis of corpus callosum, Lipid accumulation in hepatocytes, Elevated circulating alanine amin... OMIM:608836
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia, Fetal pyelectasis, Per... OMIM:616531
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elevated c... ORPHA:370022
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Cerebe... OMIM:613153
19P13.12 Microdeletion Syndrome
Aplasia/Hypoplasia of the cerebellar vermis, Intrauterine growth retardation, Hyperlipidemia, Hep... ORPHA:254346
Combined Oxidative Phosphorylation Deficiency 14
Aminoaciduria, Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Increased hepatic... OMIM:614946
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Xanthelasma, Increased LDL cholesterol concentration, Positive Romberg sign, ... OMIM:277460
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, J... ORPHA:60
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Limb ataxia, Gait ataxia, 3-Methylglutaconic aciduria, Increased hepatic glyc... OMIM:619259
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Hepatomegaly, Elevate... OMIM:606069
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hepato... OMIM:201475
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Elevated circulating aspart... OMIM:212140
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, In... ORPHA:79324
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ... OMIM:615830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Leukoencephalopathy, Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dy... OMIM:615181
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Hypoplasia of the corpus callosum, Cirrhosis, Duplicated collecting system, He... OMIM:270400
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Glycosuria, Elevated c... ORPHA:2088
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic... OMIM:267010
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Grade II... OMIM:619377
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra... OMIM:608104
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Difficulty walki... ORPHA:98907
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Difficulty walking, Acute hep... ORPHA:905
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis... OMIM:610717
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid... OMIM:610205
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Cerebellar v... ORPHA:64753
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Proteinuria, Membranoproliferati... OMIM:619858
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Cholestasis, Elevated circulating aspartate aminotransferase concentration, ... OMIM:614924
Obesity Due To Prohormone Convertase I Deficiency
Cholestasis, Delayed puberty, Growth delay ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Cholestasis, Delayed puberty, Growth delay ORPHA:71526
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... ORPHA:66634
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Myoglobinu... OMIM:231530
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia, Increased susceptibility to fractures OMIM:304700
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... ORPHA:2394
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Renal tubular dysfunction... ORPHA:436271
Pseudo-Torch Syndrome 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Polymicrogyria... OMIM:251290
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstiti... OMIM:616629
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb dystonia, Hepatic steatosis, Cirrho... OMIM:277900
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Growth delay, ... OMIM:614921
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar at... OMIM:203700
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Increased susceptibility to fractures, Atten... ORPHA:216866
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ... OMIM:615381
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Hyp... ORPHA:88618
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Rett Syndrome
Difficulty walking, Inability to walk, Hyperammonemia, Cholecystitis, Progressive microcephaly, G... ORPHA:778
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Chole... OMIM:615486
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isomerase level, Splenomegaly, Cho... OMIM:613470
Glycogen Storage Disease Ixb
Growth delay, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Short stature, Hep... OMIM:261750
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Triploidy
Aplasia/Hypoplasia of the corpus callosum, Abnormality of the gallbladder, Intrauterine growth re... ORPHA:3376
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... ORPHA:400
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Jaundice OMIM:201400
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub... OMIM:210500
Macrocephaly-Intellectual Disability-Autism Syndrome
Penile freckling, Hepatic steatosis, Macrocephaly ORPHA:210548
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Elevated circulating hepatic transaminase concentration, Cerebral atrophy, I... OMIM:225750
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Cerebe... ORPHA:404454
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... OMIM:212138
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc... OMIM:604367
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Increased total bilirub... ORPHA:2137
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Leukoencephalopathy, Abnormal renal collecting system morphology, Elevated circulating hepatic tr... ORPHA:17
Crome Syndrome
Short stature, Cerebellar dysplasia, Microcephaly, Renal tubular epithelial necrosis OMIM:218900
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:609015
Seckel Syndrome 10
Severe short stature, Glycosuria, Elevated circulating aspartate aminotransferase concentration, ... OMIM:617253
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Tremor, Microcephaly, Gait disturbance, Micropenis, Short stature ORPHA:457240
Mevalonic Aciduria
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Fluctuating splenome... OMIM:610377
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hepatitis, Cerebral atrophy, Increased circulating ferritin concentration, In... OMIM:615846
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... ORPHA:403
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... ORPHA:562639
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:98908
Bile Acid Conjugation Defect 1
Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated... OMIM:619232
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Intellectual Developmental Disorder, Autosomal Dominant 48
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Polymicrogyria, Hypoplasia of ... OMIM:617751
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... OMIM:615415
Cog8-Cdg
Progressive microcephaly, Cerebellar atrophy, Elevated circulating hepatic transaminase concentra... ORPHA:95428
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Elevated circulating hepatic transaminase concentration, Paresthesia, Cirrho... ORPHA:298
Cog5-Cdg
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Hepatosplenomegaly, ... ORPHA:263487
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:615595
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Growth delay, Cerebr... OMIM:615471
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi... OMIM:301068
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Jerky head movements, Ataxia OMIM:245348
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc... ORPHA:93111
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Congenital Generalized Lipodystrophy
Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Increased... ORPHA:528
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Elevated circulating propionylcarnitine concentration, Micrognathia, Cryptorc... OMIM:614857
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Reduced 3-met... OMIM:210200
Pearson Syndrome
Postnatal growth retardation, Hepatic steatosis, Hypophosphatemia, Ataxia, Hepatomegaly, Hypoplas... ORPHA:699
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Intr... ORPHA:2075
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Cerebellar dysplasia OMIM:250951
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl... OMIM:614817
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... ORPHA:562
Epilepsy With Eyelid Myoclonia
Abnormal head movements ORPHA:139431
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Difficulty walking, Hyperglycinemia, Action tremor, Hepatomegaly, Jaundice, Abnormal basal gangli... ORPHA:309854
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Elevated circulating hepatic transaminase concentration, Paresthesia, Hepatic s... ORPHA:2959
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Limitation of joint mobility, Humeroradial synost... ORPHA:95699
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Intrauterine growth retardation, Hepatic steatosis, Microcephaly, Short stature... OMIM:619321
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Leukoencephalopathy, Aminoaciduria, Glycosuria, Decreased liver function, Hyperphosphaturia, Rena... OMIM:220110
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Rickets, Death in childhood, Death in adolescence, Ataxia, Hepatomegaly... OMIM:560000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Ogden Syndrome
Shuffling gait, Microretrognathia, Abnormal head movements, Cryptorchidism, Lethargy ORPHA:276432
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Cholecys... OMIM:266200
Glycogen Storage Disease Xii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch... OMIM:611881
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebra... OMIM:614886
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, He... ORPHA:412
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo... OMIM:211600
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Somatostatinoma
Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi... ORPHA:97283
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration,... ORPHA:1667
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Difficulty walking, Ovarian cyst, Hypophospha... ORPHA:249
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Ath... ORPHA:369929
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Splenomegaly, Glomerulopathy, Pancreatitis, Hypertriglyceridemia, Hepatomegaly ORPHA:2348
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Eleva... ORPHA:69665
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Inability to walk, Cerebral calci... OMIM:617303
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Hypertriglyceridemia, ... ORPHA:79259
Alagille Syndrome
Nephrotic syndrome, Cholestasis, Abnormality of the ureter, Intrauterine growth retardation, Redu... ORPHA:52
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperuricemia, Splenomegaly, Cirrhosis, Pancreatitis, Hypertriglyceridemia, He... ORPHA:79083
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych... OMIM:619481
Garg-Mishra Progeroid Syndrome
Increased circulating lactate dehydrogenase concentration, Secondary microcephaly, Postnatal grow... OMIM:620601
Donohue Syndrome
Hepatic fibrosis, Long penis, Cholestasis, Postnatal growth retardation, Intrauterine growth reta... OMIM:246200
Poretti-Boltshauser Syndrome
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal periventri... OMIM:615960
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:613280
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Intrauterine growth retardation, Hyperbilir... OMIM:615710
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Secondary microcephaly, Elevated circulating alkaline phosphatase conc... OMIM:300868
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Renal hypoplasia, Hepatic failure, Elevated circulating hepat... OMIM:118450
Adrenomyodystrophy
Short stature, Abnormality of the urinary system, Hepatic steatosis, Megacystis ORPHA:977
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u... ORPHA:348
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Cystinosis
Type I diabetes mellitus, Rickets, Polydipsia, Portal hypertension, Hypokalemia, Hypophosphatemia... ORPHA:213
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia ORPHA:79085
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Hepatic steatosis, Reduced cystathionine beta-synthase activi... OMIM:236200
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:275761
Fanconi-Bickel Syndrome
Hypouricemia, Elevated gamma-glutamyltransferase level, Postnatal growth retardation, Hyperbiliru... OMIM:227810
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Growth delay, Cholesta... OMIM:615895
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Sporadic Infantile Bilateral Striatal Necrosis
Abnormal posturing, Chorea, Gait ataxia, Gait disturbance, Dysphagia, Bradykinesia, Titubation ORPHA:225147
Metachromatic Leukodystrophy, Late Infantile Form
Punctate periventricular T2 hyperintense foci, Tip-toe gait, Gait ataxia, Cholecystitis, Progress... ORPHA:309256
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia ORPHA:435651
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Elevated circulating hepatic transamin... OMIM:229600
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Galactosuria, Hypermethioninemia, Increased circulating iron concentration, Hepa... OMIM:222470
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
3-Hydroxy-3-Methylglutaric Aciduria
Leukoencephalopathy, 3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concent... ORPHA:20
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, G... ORPHA:404
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensit... ORPHA:251274
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Hyperphosphatemia, Elevated circulating hepatic transaminase conce... ORPHA:99845
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Cholestasis, Hypocalcemia, Chronic hepatic failure, Diffuse hepatic steatosis ORPHA:746
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Familial Atrial Myxoma
Cholestasis, Jaundice ORPHA:615
Mednik Syndrome
Hepatic fibrosis, Cholestasis, Neonatal death, Cirrhosis, Increased circulating very long-chain f... OMIM:609313
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Intrauterine growth retardation,... OMIM:610199
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Hypokalemia, Lethargy, Anorexia OMIM:611590
Metachromatic Leukodystrophy, Adult Form
Punctate periventricular T2 hyperintense foci, Difficulty walking, Chorea, Cholecystitis, Abnorma... ORPHA:309271
Secondary Short Bowel Syndrome
Cholestasis, Low plasma citrulline, Steatorrhea, Abnormal blood ion concentration, Growth delay ORPHA:95427
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:611126
Enteric Anendocrinosis
Cholestatic liver disease, Portal hypertension ORPHA:83620
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets... OMIM:600785
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Metachromatic Leukodystrophy, Juvenile Form
Punctate periventricular T2 hyperintense foci, Cholecystitis, Abnormal glycosphingolipid metaboli... ORPHA:309263
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Cerebral atrophy, Recur... OMIM:613658
Medulloblastoma
Elevated circulating hepatic transaminase concentration, Cerebellar ataxia associated with quadru... ORPHA:616
Monosomy 13Q34
Growth delay, Hepatic steatosis, Fetal pyelectasis, Agenesis of corpus callosum, Microcephaly, Hy... ORPHA:96168
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Rickets, Elevated circulating parathyroid hormone... OMIM:277440
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase a... OMIM:235700
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... ORPHA:435660
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Delayed... OMIM:264700
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Cirrhosis, Hypertriglyc... ORPHA:79086
Vacterl/Vater Association
Multicystic kidney dysplasia, Occipital encephalocele, Renal agenesis, Abnormality of the urethra... ORPHA:887
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hyp... ORPHA:93160
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Cerebral calcification, Intra... ORPHA:294
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Postnatal growth retar... ORPHA:79240
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypophosphatemic rickets, Pa... ORPHA:263455
Axial Osteomalacia
Increased bone mineral density, Elevated circulating creatine kinase concentration, Polycystic li... OMIM:109130
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid... ORPHA:157215
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... ORPHA:444490
Hypophosphatasia, Adult
Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures,... OMIM:146300
Immunodeficiency 40
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616433
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Rhizomelia, Cholestasis, Hepatosplenomeg... OMIM:266920
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Delayed... ORPHA:289157
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Dilatation of the renal pelvis, Cholestasis, Dark urine... OMIM:619534
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia OMIM:613677
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing, Dysphagia, Multiple joint contractures OMIM:128100
Alstrom Syndrome
Nephritis, Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol con... OMIM:203800
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Hyperammonemia ORPHA:292
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Elevated circulating aspa... OMIM:619573
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Hepatosplenomegaly, Hypoph... OMIM:307800
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Hyperbil... OMIM:613471
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cerebral atrophy, Cholecystitis, Splenomegaly, Tremor, Dystonia, Prolonged neonat... OMIM:615512
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Osteopenia, Micrognathia, Joint hypermobility, Jerky head movements, Hypertri... ORPHA:369837
Dubowitz Syndrome
Hypocholesterolemia, Intrauterine growth retardation, Postnatal growth retardation, Microcephaly,... OMIM:223370
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Elevate... OMIM:613327
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Cerebellar hypoplasia, Ataxia, Short stature, Elevated hemoglobin A... OMIM:616113
Hypercholanemia, Familial 1
Steatorrhea, Rickets, Increased serum bile acid concentration OMIM:607748
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Difficulty walking, Hypophosphatemic rickets, Sparse bo... OMIM:241530
Hereditary Cryohydrocytosis With Reduced Stomatin
Ataxia, Intracerebral periventricular calcifications, Postnatal growth retardation, Hepatosplenom... ORPHA:168577
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Kaufman Oculocerebrofacial Syndrome
Short stature, Microcephaly, Hypocholesterolemia, Hypoplasia of the corpus callosum OMIM:244450
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Adrenal hyperplasia, Decreased circulating renin level, Hypokalemia, Glucocortocoid-i... ORPHA:231580
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Difficulty walking, Hypocalcemia, Sparse bone trabecula... OMIM:600081
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Grow... OMIM:232200
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Elevated circulatin... ORPHA:449395
Cranioectodermal Dysplasia 2
Rhizomelia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cir... OMIM:613610
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Impaired temperature sensation, Hypertriglyceridemia ORPHA:31150
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Infantile Systemic Hyalinosis
Osteopenia, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Osteomalacia, Joint stiffn... ORPHA:2176
Shigellosis
Acute kidney injury, Hepatic failure, Urethritis, Cholestasis, Hyponatremia, Peritonitis, Splenic... ORPHA:810
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ... ORPHA:2869
Sandifer Syndrome
Abnormal head movements, Abnormal posturing ORPHA:71272
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Liver Disease, Severe Congenital
Portal inflammation, Macrocephaly at birth, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepat... OMIM:619991
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis, Glomerul... ORPHA:470
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Redu... OMIM:232220
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Intrauterine growth retardation, Increased serum testosterone lev... ORPHA:96181
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Rickets, Hypoc... OMIM:212750
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Cholecystitis, Elevated alkalin... ORPHA:100086
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... OMIM:620367
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal hyperplasia, Hypon... ORPHA:90790
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Hematuria, Torticollis, Ataxia, Jaundice... OMIM:619475
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ketonuria, Increased hepatocellular lipid droplets, Hyperammonemia,... OMIM:220111
Smith-Lemli-Opitz Syndrome
Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney, Rhizomelia, Growth de... ORPHA:818
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease ORPHA:5
Lipodystrophy, Familial Partial, Type 2
Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia, Decreased HDL cholesterol concentr... OMIM:151660
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Hypophosphatemia ORPHA:89937
Wolf-Hirschhorn Syndrome
Abnormality of the urinary system, Abdominal situs inversus, Abnormality of the gallbladder, Intr... ORPHA:280
Acute Generalized Exanthematous Pustulosis
Cholestasis, Elevated circulating hepatic transaminase concentration, Renal insufficiency ORPHA:293173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar dysplasia, Encephalocele, Agenesis... OMIM:613150
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating asp... OMIM:620376
Bloom Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hepatic steatosis, Microcephaly, E... OMIM:210900
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat... OMIM:137920
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol... OMIM:608594
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltra... ORPHA:186
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Hypophosphatem... OMIM:613388
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic tran... OMIM:619525
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decreased HDL cholesterol co... ORPHA:280365
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol... OMIM:269700
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Retrognathia, Osteomalacia, Joint stiffness, Micrognathia, Joint hypermobili... ORPHA:1901
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Rickets, Osteomalacia OMIM:179830
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria ORPHA:349
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, El... OMIM:276700
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis, Action tremor, Agenesis of corpus callosum, Ataxia, Hypospadias, Polymicrogyri... ORPHA:3455
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Dark... ORPHA:521219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Renal dysplasia, Polymicrogyria, Type II lissencephaly, Cerebellar malfo... OMIM:236670
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... ORPHA:1333
Bardet-Biedl Syndrome
Chronic kidney disease, Ataxia, Hepatic fibrosis, Elevated circulating hepatic transaminase conce... ORPHA:110
Congenital Tufting Enteropathy
Steatorrhea, Cholestatic liver disease ORPHA:92050
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Jerky head movements ORPHA:64280
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic ri... OMIM:612089
Gaisböck Syndrome
Nephrocalcinosis, Hypernatriuria, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertrigly... ORPHA:90041
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Contractures of the large joints, Insulin-resistant ... ORPHA:2457
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... ORPHA:781
Neu-Laxova Syndrome
Osteopenia, Rickets, Retrognathia, Osteomalacia, Hypogonadism, Intrauterine growth retardation, M... ORPHA:2671
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Listeriosis
Acute kidney injury, Somatic sensory dysfunction, Pyelonephritis, Cholecystitis, Tremor, Peritoni... ORPHA:533
Intellectual Developmental Disorder, Autosomal Dominant 68
Urinary incontinence, Microcephaly, Intrauterine growth retardation, Hepatic steatosis OMIM:619934
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Increased circulating cortisol level, Neoplasm of the p... ORPHA:97278
Hydrolethalus Syndrome 1
Accessory spleen, Intrauterine growth retardation, Micrognathia, Agenesis of corpus callosum, Adr... OMIM:236680
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Post... OMIM:619127
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Cholestasis, Hepatomegaly OMIM:620233
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... OMIM:619488
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300009
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Hypoplasia of the corpus callosum, Microvesicular he... OMIM:618278
Vipoma
Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi... ORPHA:97282
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Delayed eruption o... ORPHA:289176
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Increas... ORPHA:99889
Vici Syndrome
Abnormal posturing, Micrognathia, Agenesis of corpus callosum, Elevated circulating creatine kina... OMIM:242840
Aromatase Deficiency
Hyperlipidemia, Hepatic steatosis, Growth delay ORPHA:91
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Osteomalacia, Micrognathia, Cryptorchidism, Hypophosphatemia, Motor stereotypy, Se... ORPHA:534
1P36 Deletion Syndrome
Cerebral cortical atrophy, Annular pancreas, Abnormality of the spleen, Abnormality of the liver,... ORPHA:1606
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia OMIM:134600
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Increased circulating cortisol level, Neoplasm of the p... ORPHA:97261
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99226
Ogden Syndrome
Growth delay, Cerebral atrophy, Postnatal growth retardation, Intrauterine growth retardation, Hy... OMIM:300855
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Abnormal dentin morphology, Generalized osteosclerosis, Hy... ORPHA:89936
Glucagonoma
Intrahepatic cholestasis, Increased circulating cortisol level, Neoplasm of the pancreas, Intermi... ORPHA:97280
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Osteomalacia, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparath... OMIM:600740
Ileal Neuroendocrine Tumor
Hydronephrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Extrahe... ORPHA:100078
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Broad-based gait, Falls, Tip-toe gait, Hypomagnesemia, Cholestasis, He... OMIM:619503
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Recurrent urinary tract infections, Cholecystitis, Cholangitis, Liver abscess ORPHA:183675
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Macrocephaly, Hepatomegaly OMIM:301066
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets, Camptodactyly ... OMIM:309000
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hypocalcemia, Hepatic steatosis, ... OMIM:188400
Occipital Horn Syndrome
Hepatitis, Recurrent urinary tract infections, Cholestasis, Cerebral calcification, Bladder diver... ORPHA:198
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Intrauterine growth retardation, Adrenal gland agenesis OMIM:611812
Alström Syndrome
Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste... ORPHA:64
Cog1-Cdg
Cerebellar vermis hypoplasia, Temporal cortical atrophy, Rhizomelia, Cerebellar dysplasia, Hepato... ORPHA:263508
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Increased urinary cortisol level, Jaundice, Hypercalcemia, ... ORPHA:913
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Rickets, Polydipsia, Hypomagnes... OMIM:219800
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Increased urinary cortisol level, Insulinoma, Renal angiomy... ORPHA:276152
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Steatorrhea, Osteoporosis ORPHA:309031
Dent Disease
Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Osteomalacia, Sparse bone trabe... ORPHA:1652
Zellweger Syndrome