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Gene: Pex2 MGI:107486

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

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 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
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... OMIM:602114
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Gait disturbance, Impaired distal tactile sensation, Hepatic steat... OMIM:618400
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Prote... OMIM:620010
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... OMIM:610717
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... OMIM:614480
Lambert Syndrome
Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia, Aplasia/Hypoplasia of the cereb... ORPHA:1296
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... OMIM:232700
Cadds
Cerebellar atrophy, Elevated hepatic transaminase, Cholangitis, Cholestasis, Abnormal cerebral wh... ORPHA:369942
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Hypocholesterolemia, Intention tremor OMIM:610539
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar vermis hypoplasia, Tremor, Dysmetria, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, H... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Microcephaly, Elevated circulating acylcarnitine... ORPHA:26792
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Elevated circulating alanine aminotransferase concentration, Hypo... OMIM:618805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Broad-based gait, Gait ataxia, Decreased liver function, Difficulty walking, ... ORPHA:512260
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Cog7-Cdg
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine ki... ORPHA:79333
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Abnormal cortical gyration, Elev... OMIM:614576
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Impaired vibration sensation in the lower limbs, Impaired proprioception, Limb at... ORPHA:251282
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v... ORPHA:94124
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Dysplastic corpus callosum, Cerebellar hypoplasia, Hypocholesterolemia, Neonatal de... OMIM:618810
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal proprioception, Cerebra... OMIM:607250
Cimdag Syndrome
Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Microcephaly, Microvesicular hepati... OMIM:619273
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Abnormal circulati... ORPHA:79303
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Microcephaly, Microvesicular hepatic steatosis, Chorea, Cerebral atrophy, Hyp... OMIM:616672
Combined Oxidative Phosphorylation Deficiency 1
Fulminant hepatic failure, Hepatomegaly, Microcephaly, Cholestasis, Basal ganglia cysts, Hypoplas... OMIM:609060
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:615703
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... OMIM:615558
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... OMIM:619868
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Dystonia, Ataxia, Elevated circu... OMIM:615356
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Elevated hepatic transaminase, Renal insufficiency, Abnormal basal ganglia mo... ORPHA:445038
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Argininemia
Cerebellar atrophy, Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammo... OMIM:207800
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... OMIM:278000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Cerebral calcification, Elevated circulating creatine kinase concen... ORPHA:228308
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Short stature, Splenomegaly, Hydrocephalus, Chronic k... OMIM:615630
Metachromatic Leukodystrophy
Ataxia, Urinary incontinence, Reduced leukocyte arylsulfatase A activity, Chorea, Abnormal cerebr... OMIM:250100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... OMIM:619048
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Imp... ORPHA:71
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... OMIM:604213
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj... OMIM:617093
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... OMIM:608709
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Cerebral calcification, Splenome... OMIM:610333
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem... ORPHA:3111
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... OMIM:619386
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Huntington Disease-Like 1
Abnormal head movements, Restlessness, Chorea, Dysmetria, Gait ataxia, Bradykinesia, Gait disturb... ORPHA:157941
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Ataxia, Tremor, Cerebral atrophy, Gait ataxi... ORPHA:363400
Nephronophthisis 18
Hydrocephalus, Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membran... OMIM:615862
Dpm1-Cdg
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated circulating cre... ORPHA:79322
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormality of the kidney, Proteinuri... ORPHA:369
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Elevated circulating phytanic acid... OMIM:266510
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebral dysmyelination, Microcephaly, Hypoplasia of the pons, Abno... ORPHA:101070
Galactose Mutarotase Deficiency
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Hypergalactosem... ORPHA:570422
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated... OMIM:615673
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Very long chain fatty acid accumulation, Ataxia, Tremor, Unsteady gait, Eleva... OMIM:614867
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypocalcemia... OMIM:612526
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolin... OMIM:616299
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Mandibular prognathia, Joint laxity, Hyper... OMIM:300624
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Peroxisome Biogenesis Disorder 6B
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, El... OMIM:614871
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Generalized dystonia, Ataxia, Inability to... ORPHA:70472
Chylomicron Retention Disease
Impaired vibratory sensation, Decreased LDL cholesterol concentration, Steatorrhea, Growth delay,... OMIM:246700
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Short stature, Microcephaly, Decreased LDL cholesterol c... OMIM:616834
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Cerebral atrophy, Hypoplasia of the corpus callosum, Neonatal death, Hyperalanin... OMIM:615918
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Cerebral white matter atrophy, Waddling gait, Microc... ORPHA:369840
Coach Syndrome 2
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydroce... OMIM:619111
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... OMIM:255120
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dystonia, D... OMIM:264470
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Hepatomegaly, Pancreatic fibrosis, Ataxia, Short stature, Postnatal growth re... OMIM:616263
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Microcephaly, Periventricular... OMIM:619013
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Renal steatosis OMIM:261650
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia ORPHA:71518
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Rhizomelia, Microcephaly, Tremor, Cerebral atrophy, Opisthotonus, Cho... OMIM:616271
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:264580
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Patent Ductus Venosus
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function OMIM:601466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Microcephaly, I... OMIM:613155
3-Methylglutaconic Aciduria, Type V
Ataxia, Elevated circulating aspartate aminotransferase concentration, Hypospadias, Postnatal gro... OMIM:610198
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia OMIM:620357
Senior-Boichis Syndrome
Diffuse cerebral atrophy, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal h... ORPHA:84081
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Hypoalbuminemia, ... OMIM:618329
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Painless fractu... OMIM:256810
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Microcephaly, Con... OMIM:613404
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Dandy-Walker malformation, Hepatomegaly, Portal hyper... OMIM:208540
Potocki-Lupski Syndrome
Short stature, Microcephaly, Abnormal renal morphology, Hypoplasia of the corpus callosum, Hypoch... OMIM:610883
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,... ORPHA:14
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,... OMIM:208920
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Steatorrhea, Cholestasis, Sev... ORPHA:440713
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... ORPHA:209919
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Dystonia 31
Abnormal posturing, Difficulty walking, Dysphagia OMIM:619565
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... OMIM:615382
Hyperbiliverdinemia
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... OMIM:614156
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:251880
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Hepatic steatosis, Proteinuria ORPHA:79087
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Dystonia, Microcephaly, Abnormal... ORPHA:431361
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Pachygyria, ... OMIM:614866
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bilateral basal ganglia lesions, Hepatic steatosis, Microcephaly OMIM:615119
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Short stature, Elevated circulating creatine kinase... ORPHA:52430
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Neurogenic bladder, Abetalipoproteinemia, Elevated circulating crea... ORPHA:96180
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Duplicated collecting system, Microcephaly, Cholestasis, Hepatospl... ORPHA:541423
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concen... OMIM:619405
Nephronophthisis 15
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Nephronophthisis OMIM:614845
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Increase... OMIM:219080
Aicardi-Goutieres Syndrome 9
Cerebral calcification, Basal ganglia calcification, Hypoalbuminemia, Hepatic fibrosis, Micropeni... OMIM:619487
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Microcephaly, Conjugated hyperbilirubinemia,... OMIM:208085
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis ORPHA:280356
D-Bifunctional Protein Deficiency
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accum... OMIM:261515
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Occipital encephalocele, Cerebellar vermis hypoplasi... OMIM:216360
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Intrahepatic c... OMIM:619685
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Somatic sensory dysfunction, Jerky head movements, Dysphagia ORPHA:240103
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Microcephaly, Hepatospleno... ORPHA:263501
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Bilateral cryptorchidism, Micrognathia, Elbow flexi... OMIM:618156
Arima Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Hepatic fibrosis, Nephronophthisis, He... OMIM:243910
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Increased L... OMIM:277460
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Microve... OMIM:124000
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... ORPHA:101330
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Hypoplasia of the corpus callosum, Hepatic steatosis, Hydr... OMIM:615996
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Short stature, Tremor, Nephrotic range proteinuria ORPHA:300536
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated... ORPHA:64753
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms, Jerky head movements ORPHA:98807
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microcephaly, Hepatic steatosis OMIM:615438
Combined Oxidative Phosphorylation Deficiency 11
Renal dysplasia, Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular a... OMIM:614922
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Glyco... OMIM:231680
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Tremor, Biparietal narrowing, Aplasia/Hypo... ORPHA:1454
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... OMIM:617872
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At... ORPHA:30391
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... OMIM:613070
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Fetal pyelectasis, Perisylvian polymicrogyria, Cerebellar hypoplasi... OMIM:616531
Huntington Disease-Like 3
Abnormal head movements, Broad-based gait, Chorea, Flexion contracture, Progressive gait ataxia ORPHA:157946
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elevated circulating creatine kinase conc... ORPHA:370022
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Abn... ORPHA:247815
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Low plasma citrulline, Elevated circulating alanine aminotransferase con... OMIM:261680
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Increased muscle lipid ... OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar dysplasia, Agenesis of cerebellar vermis, Elevated circulating creatine kinase concent... OMIM:613153
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Copper accumulation in liver, Cerebra... OMIM:614946
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
19P13.12 Microdeletion Syndrome
Hypospadias, Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Hyperlipidemia, Hypoplasi... ORPHA:254346
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... OMIM:606069
Episodic Ataxia Type 4
Abnormal head movements, Ataxia ORPHA:79136
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Am... OMIM:277900
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Limb ataxia, Gait ataxia, 3-Methylglutaco... OMIM:619259
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit... ORPHA:79324
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... ORPHA:2088
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Optic nerve hypoplasia,... OMIM:615181
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Increased circulating cortisol ... OMIM:615830
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Renal cyst, Chiari type I malf... OMIM:270400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Basal ganglia calcification, Splenomegaly, Hydroceph... ORPHA:398124
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating... OMIM:615980
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, B... OMIM:267010
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Microcep... OMIM:201475
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... OMIM:610205
Obesity Due To Prohormone Convertase I Deficiency
Growth delay, Cholestasis, Delayed puberty ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Growth delay, Cholestasis, Delayed puberty ORPHA:71526
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Short stature, Microno... ORPHA:98907
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Growth delay, Cholesta... OMIM:619858
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Hydrocephalus, Grade II vesicoureteral reflux, Cho... OMIM:619377
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper... OMIM:617156
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... OMIM:613027
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, R... ORPHA:436271
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein ... OMIM:616267
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Hypoalbuminemia, Decrea... OMIM:608104
Dilated Cardiomyopathy With Ataxia
Bilateral basal ganglia lesions, Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Acti... ORPHA:66634
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... OMIM:616629
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... OMIM:614921
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia, Increased susceptibility to fractures OMIM:304700
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cerebral calcification, Microce... OMIM:251290
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... OMIM:300972
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Growth delay, Decreased 3-hyd... OMIM:231530
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a... OMIM:615381
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Hydrocephalus, Abnor... ORPHA:3376
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Intracerebral periventricular calcifications, Dyston... OMIM:225750
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, A... OMIM:203700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Ataxia, Splenomegaly, Jaundice, Sensory ataxia, Decreased glucosephosphate is... OMIM:613470
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... ORPHA:88618
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Increased susceptibility to fractures, Tip-toe gait, Gait disturbance, Attenti... ORPHA:216866
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... OMIM:203800
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... OMIM:201450
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy... OMIM:306000
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Jaundice OMIM:201400
Rett Syndrome
Increased serum pyruvate, Dystonia, Inability to walk, Hyperammonemia, Gait disturbance, Cholecys... ORPHA:778
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating... ORPHA:99901
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis, Penile freckling, Macrocephaly ORPHA:210548
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... OMIM:604367
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Severe short stature, Elevated hemoglobin A1c, Elevated... OMIM:617253
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... ORPHA:403
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Nodular regenerative hyperplasia... ORPHA:404454
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Abnormal basal ganglia MRI signal intensity, Hepatomegaly, Elevated hepat... ORPHA:17
Mevalonic Aciduria
Cerebellar atrophy, Elevated hepatic transaminase, Agenesis of cerebellar vermis, Ataxia, Elevate... OMIM:610377
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Microcephaly, Tremor, Gait disturbance, Micropenis, Cerebellar dysplasia ORPHA:457240
Cog8-Cdg
Cerebellar atrophy, Ataxia, Progressive microcephaly, Elevated hepatic transaminase ORPHA:95428
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Microcephaly, Hypoplasia of ... OMIM:617751
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Cog5-Cdg
Cerebellar atrophy, Hepatomegaly, Diffuse cerebral atrophy, Cerebral white matter atrophy, Elevat... ORPHA:263487
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Microcephaly, Microvesic... OMIM:619418
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... ORPHA:562639
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hepatomegaly, Intracerebral periventricular calcifications, Dystonia, Microce... OMIM:615846
Crome Syndrome
Microcephaly, Short stature, Renal tubular epithelial necrosis, Cerebellar dysplasia OMIM:218900
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hepatic steatosis, Increased... ORPHA:528
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level OMIM:615238
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Ataxia, Jerky head movements OMIM:245348
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Abnormal mesentery morphology, Abnormali... ORPHA:2075
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Leukoencephalopathy, Abnormal cerebral white matter morphology, Pa... ORPHA:298
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Hypospadias, Microcephaly, Cerebral at... OMIM:615471
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Ataxia, Hypo... ORPHA:699
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaric aciduria, Cerebellar dysplasia OMIM:250951
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Short stature, Hypospa... ORPHA:2959
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... ORPHA:189427
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Leukoencephalopathy, Renal tubular dysfunct... OMIM:220110
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal globus pallidus morphology, Abnormality of the liver, Hepatomegaly, Abnormal blood inorg... ORPHA:309854
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Athetosis, Hypokalemia, Hyperaldosteronism, Dexa... ORPHA:369929
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Ovarian cyst,... ORPHA:562
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... ORPHA:98908
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Increased muscle glycogen content, Growth delay, Hyper... OMIM:261750
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97283
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Ataxia, Osteoporosis, Rickets, Death in adolescence, Death in childhood, Type I dia... OMIM:560000
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Renal hypoplasia, Azotemia, I... OMIM:619321
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis ORPHA:2348
Jeavons Syndrome
Abnormal head movements ORPHA:139431
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Cryptorchidism, Hyperhomocystinemia, Ele... OMIM:614857
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Microcephaly, Hydrocephalus, Cerebral atrophy, Grow... OMIM:614886
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... OMIM:266200
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... ORPHA:249
Ogden Syndrome
Microretrognathia, Abnormal head movements, Cryptorchidism, Shuffling gait, Lethargy ORPHA:276432
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... OMIM:211600
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Short stature, De... ORPHA:79259
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, ... ORPHA:1667
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Cerebral calcification, Proteinuria, Microcephaly, Splenomegaly, Inability to walk,... OMIM:617303
Glycogen Storage Disease Xii
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short stature, Elevated ... OMIM:611881
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... ORPHA:79083
Alagille Syndrome
Hepatomegaly, Renal hypoplasia/aplasia, Abnormality of the ureter, Cholestasis, Reduced number of... ORPHA:52
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Abnormal periventri... OMIM:615960
Donohue Syndrome
Postnatal growth retardation, Long penis, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hy... OMIM:246200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Absent septum pellucidum... OMIM:300868
Alagille Syndrome 1
Elevated hepatic transaminase, Duplicated collecting system, Hypertriglyceridemia, Hepatocellular... OMIM:118450
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... OMIM:212138
Primary Sclerosing Cholangitis
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated a... ORPHA:171
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Adrenomyodystrophy
Megacystis, Abnormality of the urinary system, Hepatic steatosis, Short stature ORPHA:977
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... ORPHA:232
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:79085
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:251274
Cystinosis
Portal hypertension, Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Rickets, Hyp... ORPHA:213
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Ketonuria, Opisthotonus, Acute hepatic steatosis, Elevated urinary 3-methyl... OMIM:210200
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Tremor, Steppage gait, ... OMIM:613280
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis ORPHA:435651
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Intrauterin... OMIM:615710
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... OMIM:235555
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Sporadic Infantile Bilateral Striatal Necrosis
Chorea, Titubation, Bradykinesia, Gait ataxia, Gait disturbance, Dysphagia, Abnormal posturing ORPHA:225147
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Dark urine, Renal insufficiency, Recurrent myoglobinuria, Abnormal... ORPHA:99845
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Tremor, Abnormality of the pancreas, Jaundice, Elevated circulatin... ORPHA:69665
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Gait ataxia, Progressive gait ataxia, Tip-toe gait, Cholecystitis, Dystonia... ORPHA:309256
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice... OMIM:229600
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Tip-toe gait, Hypocalcemia, Diffuse hepatic steatosis, Chronic hepatic failure ORPHA:746
Fanconi-Bickel Syndrome
Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula... OMIM:227810
Mednik Syndrome
Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fat... OMIM:609313
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Rickets, Hepatosplenomegaly, Hypokalemia, Lethargy OMIM:611590
Familial Atrial Myxoma
Jaundice, Cholestasis ORPHA:615
Trichohepatoenteric Syndrome 1
Hepatomegaly, Short stature, Hypospadias, Abnormality of the pancreas, Splenomegaly, Jaundice, Ch... OMIM:222470
Metachromatic Leukodystrophy, Adult Form
Dystonia, Urinary incontinence, Chorea, Progressive gait ataxia, Abnormal glycosphingolipid metab... ORPHA:309271
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Microcephaly,... ORPHA:20
Medulloblastoma
Elevated hepatic transaminase, Ataxia, Cerebellar calcifications, Hydrocephalus, Progressive macr... ORPHA:616
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Growth delay, Steatorrhea ORPHA:95427
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... ORPHA:435660
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f... OMIM:611126
Metachromatic Leukodystrophy, Juvenile Form
Urinary incontinence, Abnormal glycosphingolipid metabolism, Progressive gait ataxia, Punctate pe... ORPHA:309263
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Thin bony cortex, Recurrent fractures, Carious teeth, Delayed epiphyse... OMIM:277440
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... OMIM:600785
Monosomy 13Q34
Hypercalcemia, Microcephaly, Fetal pyelectasis, Growth delay, Agenesis of corpus callosum, Hepati... ORPHA:96168
Vacterl/Vater Association
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... ORPHA:887
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Methioninuria, Hyperhomocystinemia, Hypermethioninemia, Homocystinuria, Pancre... OMIM:236200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification... OMIM:264700
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Cirrhosis, Abnormal circulat... ORPHA:79086
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Cerebral calcification, Short ... OMIM:613658
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Enteric Anendocrinosis
Cholestatic liver disease, Portal hypertension ORPHA:83620
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Gait disturbance, ... ORPHA:93160
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... ORPHA:263455
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parat... ORPHA:157215
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,... OMIM:109130
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level OMIM:613677
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Carious teeth, Rickets, Increased susceptibility to fractures,... OMIM:146300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Ureteral duplication, Ataxia, Cholangitis, Short stature, Microcephaly, Pancreatic ... OMIM:266920
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Aqueductal stenosis, Hypoalbuminemia, Hepatic fibrosis, Elevated g... OMIM:619534
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Ricke... ORPHA:289157
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Joubert Syndrome 23
Dysplastic corpus callosum, Cerebellar dysplasia OMIM:616490
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent... ORPHA:444490
Dystonia 1, Torsion, Autosomal Dominant
Inability to walk, Abnormal posturing, Multiple joint contractures, Dysphagia OMIM:128100
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognath... ORPHA:369837
Congenital Enterovirus Infection
Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure ORPHA:292
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Triosephosphate Isomerase Deficiency
Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Cerebral atrophy, Cholecystitis, Prolong... OMIM:615512
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Elevated hemoglobin A1c, Short stature, Postnatal growth retardation, Cerebellar hypoplas... OMIM:616113
Dubowitz Syndrome
Short stature, Hypospadias, Microcephaly, Postnatal growth retardation, Hypocholesterolemia, Intr... OMIM:223370
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Decreased circulating parathyroid hormone level, Abnormal circulating calciu... OMIM:241530
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis OMIM:235700
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:613327
Kaufman Oculocerebrofacial Syndrome
Microcephaly, Short stature, Hypoplasia of the corpus callosum, Hypocholesterolemia OMIM:244450
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Hyperlipidemia, Delayed ... OMIM:232200
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Impaired temperature sensation, Hypocholesterolemia ORPHA:31150
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydips... ORPHA:231580
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D... ORPHA:90363
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... OMIM:613471
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Intracerebral periventricular calcifications, Ataxia, Short stature,... ORPHA:168577
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Abnormality of... ORPHA:2869
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Microcephaly, Intrahepatic cholestasis, Myel... OMIM:607330
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Shigellosis
Hyponatremia, Hemolytic-uremic syndrome, Peritonitis, Urethritis, Abnormal blood ion concentratio... ORPHA:810
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Rhi... OMIM:613610
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... ORPHA:90791
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Micrognathia, Insulin-resistan... ORPHA:2457
Liver Disease, Severe Congenital
Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic... OMIM:619991
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Ataxia, Osteoporosis, Thyroiditis, Steatorrhea, Rickets, Hypocalce... OMIM:212750
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Increased circulating free fatty acid level ORPHA:293964
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Elevated ... ORPHA:100086
Sandifer Syndrome
Abnormal head movements, Abnormal posturing ORPHA:71272
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Hypouricemia, Short stature, Prot... OMIM:616026
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Proteinuria, Spl... OMIM:232220
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Maternal Uniparental Disomy Of Chromosome 6
Miscarriage, Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardatio... ORPHA:96181
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... OMIM:151660
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ... ORPHA:90790
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... OMIM:307800
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Rhizomelia, Hypospadias, Microc... ORPHA:818
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar dysplasia, Encephalocele, Elevated circulating creatine kinase concentration, Microcep... OMIM:613150
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease ORPHA:5
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Micropenis, Hepatic steatosis, Intention tremor, Ataxia, Hypospadias, Macrocephaly, Hyperbilirubi... OMIM:619475
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Bloom Syndrome
Elevated hemoglobin A1c, Microcephaly, Postnatal growth retardation, Growth delay, Intrauterine g... OMIM:210900
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Ketonuria, Microcephaly, Tremor, Microvesicular h... OMIM:220111
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Renal insufficiency, Cholestasis ORPHA:293173
Wolf-Hirschhorn Syndrome
Ataxia, Hypospadias, Abnormality of the kidney, Microcephaly, Abnormality of the gallbladder, Abn... ORPHA:280
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... OMIM:608594
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepati... ORPHA:280365
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... OMIM:613388
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Klatskin Tumor
Hepatomegaly, Jaundice, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Abnormality of alkalin... OMIM:137920
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Micrognathia, Osteoporosis, Rickets, Joint hyperflexib... ORPHA:1901
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder ORPHA:349
Wiedemann-Rautenstrauch Syndrome
Tremor, Wide penis, Chiari type I malformation, Vesicoureteral reflux, Dilatation of renal calice... ORPHA:3455
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... ORPHA:1333
Tyrosinemia, Type I
Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Renal insuf... OMIM:276700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Renal dysplasia, Occipital encephalocele, Agyria, Elevated circulating creatine kinase concentrat... OMIM:236670
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased... ORPHA:90041
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
D-Glyceric Aciduria
Hyperglycinemia, Chorea, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated circulating parath... OMIM:612089
Congenital Tufting Enteropathy
Cholestatic liver disease, Steatorrhea ORPHA:92050
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder ORPHA:64280
Mirizzi Syndrome
Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Elevated circulating alkaline ... ORPHA:521219
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
47,Xyy Syndrome
Hypospadias, Hydrocephalus, Macrocephaly, Dysgenesis of the cerebellar vermis, Micropenis, Cerebe... ORPHA:8
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Rickets OMIM:602722
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97278
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cholelithiasis, Hepati... ORPHA:774
Listeriosis
Somatic sensory dysfunction, Liver abscess, Ataxia, Tremor, Jaundice, Peritonitis, Pyelonephritis... ORPHA:533
Intellectual Developmental Disorder, Autosomal Dominant 68
Intrauterine growth retardation, Hepatic steatosis, Urinary incontinence, Microcephaly OMIM:619934
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Hematur... ORPHA:781
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Spina bifida, Micrognathia, Trismus, Flexion contracture, Osteoporosis,... ORPHA:2671
Hydrolethalus Syndrome 1
Accessory spleen, Micrognathia, Anencephaly, Stillbirth, Adrenal gland dysgenesis, Intrauterine g... OMIM:236680
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl... OMIM:619127
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Aromatase Deficiency
Growth delay, Hyperlipidemia, Hepatic steatosis ORPHA:91
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Hypoammonemia, Micrognathia, Compulsive behaviors, Ab... ORPHA:534
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97282
Degcags Syndrome
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Microce... OMIM:619488
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97261
Fanconi Renotubular Syndrome 1
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia OMIM:134600
Vici Syndrome
Elevated circulating creatine kinase concentration, Micrognathia, Abnormal thymus morphology, Dys... OMIM:242840
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Dystonia, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenome... OMIM:618278
1P36 Deletion Syndrome
Hypoplasia of penis, Short stature, Hypospadias, Abnormality of the kidney, Microcephaly, Abnorma... ORPHA:1606
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Cholestasis OMIM:620233
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Rickets OMIM:615605
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... OMIM:201810
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, R... ORPHA:289176
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Short stature, High urinary gonadotropin level, Ectopic kidney, Po... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Short stature, High urinary gonadotropin level, Ectopic kidney, Po... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Short stature, High urinary gonadotropin level, Ectopic kidney, Po... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Short stature, High urinary gonadotropin level, Ectopic kidney, Po... ORPHA:99226
Ogden Syndrome
Global glomerulosclerosis, Torticollis, Short stature, Microcephaly, Postnatal growth retardation... OMIM:300855
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97280
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... OMIM:600740
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os... OMIM:309000
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Hepatic failure, Hydronephrosis, Extrahepatic cholestasis ORPHA:100078
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Macrocephaly, Cholelithiasis OMIM:301066
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Cholangitis, Cholecystitis ORPHA:183675
Occipital Horn Syndrome
Recurrent urinary tract infections, Cerebral calcification, Jaundice, Hepatitis, Cholestasis, Bla... ORPHA:198
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Portal hypertension, Unilateral renal agenesis, Hypomagnesemia, Cholestasis, He... OMIM:619503
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Increased ci... ORPHA:913
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Short stature, Unilateral renal agenesis, Microcephaly, Spl... OMIM:188400
Cog1-Cdg
Cerebellar vermis hypoplasia, Rhizomelia, Postnatal growth retardation, Temporal cortical atrophy... ORPHA:263508
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegaly, Rickets, ... OMIM:219800
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis, Intrauterine growth retardation OMIM:611812
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Microcephaly, Perisylvian predominant thick cortex pachygyria, Bila... ORPHA:98889
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Elevated gamma-glu... ORPHA:64
Multiple Endocrine Neoplasia Type 4
Increased urinary cortisol level, Hypercalcemia, Insulinoma, Extrahepatic cholestasis, Increased ... ORPHA:276152
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Rickets, Osteoporosis, Steatorrhea, Exocrine pancreatic insufficiency ORPHA:309031
Dent Disease
Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... ORPHA:1652
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Short statur... ORPHA:912
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Hypokalemia, Hypoph... ORPHA:411629
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Doors Syndrome
Adrenal hyperplasia, Sagittal craniosynostosis, Congenital hypothyroidism, Sirenomelia, Delayed e... ORPHA:79500
Atypical Werner Syndrome
Renal neoplasm, Hypertriglyceridemia, Short stature, Glycosuria, Delayed puberty, Hepatic steatosis ORPHA:79474
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... ORPHA:18
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Proteinuria, Elevated circulating creatine kinase concentration... ORPHA:99827
Kawasaki Disease
Proteinuria, Jaundice, Hepatitis, Sterile pyuria, Cholecystitis ORPHA:2331
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... ORPHA:391665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Microcephaly, Hydroceph... OMIM:253280
Hartsfield Syndrome
Diabetes insipidus, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Hypernatremia, Age... OMIM:615465
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Increased circulating free fatty acid level OMIM:610768
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Short stature, Macrocephaly ORPHA:44
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Micrognathia, Cryptorchidism, Osteoporos... ORPHA:2636
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis, Micrognathia OMIM:273395
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibility to fractur... ORPHA:3337
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia OMIM:601374
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic ... ORPHA:405
Pyknoachondrogenesis
Sclerosis of skull base, Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly... ORPHA:3003
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Anorexia, Spl... OMIM:619381
Unilateral Polymicrogyria
Abnormal posturing, Pseudobulbar paralysis ORPHA:268943
Generalized Arterial Calcification Of Infancy
Osteomalacia, Adrenal calcification, Hepatic calcification, Abnormal calcification of the carpal ... ORPHA:51608
Infantile Refsum Disease
Hepatomegaly, Very long chain fatty acid accumulation, Short stature, Ataxia, Elevated circulatin... ORPHA:772

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 Pex2

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 Pex2.

No publications found that use IMPC mice or data for Pex2.

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MGI Allele Allele Type Produced
Pex2tm293889(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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