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Gene: Fdxr MGI:104724

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Gene Summary

Name:
ferredoxin reductase
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Fdxrem1(IMPC)Bay HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fdxr mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Auditory Neuropathy And Optic Atrophy
OMIM:617717

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormal peritoneum morphology ORPHA:2023
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Testicular Germ Cell Tumor
Choriocarcinoma, Azoospermia, Embryonal neoplasm, Teratoma, Elevated circulating alpha-fetoprotei... OMIM:273300
Iron Overload, Susceptibility To
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... OMIM:620121
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Polyembryoma
Gonadal neoplasm, Neoplasm of head and neck, Abnormal peritoneum morphology, Macroorchidism, Neur... ORPHA:180229
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Uterine neoplasm, Increased circulating lactate dehydrogenase concentrat... ORPHA:370348
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Acquired Ichthyosis
Lymphoma, Neoplasm, Sarcoma, Recurrent skin infections, Multiple myeloma ORPHA:454
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi... OMIM:619662
Milroy Disease
Neoplasm of the skin, Angiosarcoma, Erysipelas, Hydrocele testis ORPHA:79452
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland, Osteoarthritis ORPHA:2762
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Azoospermia, Splenomegaly, Elevated hepatic iron co... OMIM:615234
Rhabdoid Tumor
Neoplasm of the liver, Renal neoplasm, Sarcoma, Hypercalcemia, Neoplasm of the central nervous sy... ORPHA:69077
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly ORPHA:66661
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... ORPHA:446
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Ab... ORPHA:231222
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Hjv Or Hamp-Related Hemochromatosis
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:79230
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Decreased activity of... OMIM:614924
Gracile Syndrome
Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul... OMIM:603358
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Elevated hepatic iron concentration OMIM:206100
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Pancreatoblastoma, Oropharyngeal squamous cell carcinoma, Squamous cell ... ORPHA:443167
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, C... OMIM:617049
Meige Disease
Recurrent skin infections, Recurrent bacterial skin infections, Angiosarcoma ORPHA:90186
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In... ORPHA:247598
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... ORPHA:300298
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Elevated circulating creatinine concentration, Hepatic ... OMIM:613095
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... OMIM:618400
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neo... ORPHA:83469
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Increased intramyocellular lipid droplets, Mildly elevated creati... ORPHA:457050
Aceruloplasminemia
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... ORPHA:48818
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Splenom... ORPHA:75563
Congenital Macroglossia
Abnormal hepatic glycogen storage, Neurofibroma ORPHA:2430
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Liposarcoma
Sarcoma ORPHA:69078
Ataxia-Telangiectasia
Lymphoma, Hodgkin lymphoma, Non-Hodgkin lymphoma, Hypoplasia of the thymus, Sinusitis, Leukemia, ... OMIM:208900
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Hepatosplenomegaly, Elevated circulating amyloid A concentration, Fibroma, E... OMIM:619750
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Osteoarthritis, Hepat... OMIM:606069
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Azoosperm... OMIM:602390
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Yellow Nail Syndrome
Biliary tract neoplasm, Neoplasm, Sarcoma, Sinusitis, Renal neoplasm, Rhinitis, Bronchiectasis, N... ORPHA:662
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis... OMIM:619386
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat... OMIM:276700
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Chronic hepatic ... ORPHA:465508
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulation in l... OMIM:614946
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Ovarian Fibrothecoma
Abnormality of the ovary, Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Fibrosarcoma ORPHA:314478
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepa... OMIM:619991
Beta-Thalassemia
Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Abnormality of iron homeostasis ORPHA:848
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
Familial Adenomatous Polyposis 1
Osteoma, Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duode... OMIM:175100
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C... ORPHA:60
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Abnormality of the liver, Skin rash, Esophageal neoplasm, Neoplasm of the ... ORPHA:44890
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Azoospermia, He... OMIM:615703
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Neoplasm, Splenomegaly, Nephrobl... ORPHA:116
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Lung adenocarcinoma OMIM:618913
Aicardi Syndrome
Recurrent pneumonia, Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Carci... OMIM:304050
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... ORPHA:766
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein ORPHA:839
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Angiofibromas, Desmoid tumors, Neoplasm ... ORPHA:733
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, H... OMIM:619048
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Neoplasm, Skin rash, Hypocalcemia, Arthritis, Sinu... ORPHA:47
Ataxia-Oculomotor Apraxia 3
Elevated circulating alpha-fetoprotein concentration OMIM:615217
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein ORPHA:423479
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, Hurthle cell thyroi... ORPHA:210548
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Vir... ORPHA:2137
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration OMIM:617243
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Hypopituitarism, Hepatosplenomegaly, Hypersple... ORPHA:231226
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Amegakaryocytic Thrombocytopenia, Congenital, 2
Elevated circulating alpha-fetoprotein concentration OMIM:620481
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Syndromic Diarrhea
Hepatic fibrosis, Abnormality of iron homeostasis, Abnormality of the liver, Splenomegaly, Hypopl... ORPHA:84064
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Elevated creatine kinase after exercise ORPHA:352470
Bazex Syndrome
Liposarcoma, Lung adenocarcinoma, Neoplasm ORPHA:166113
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Hsd10 Mitochondrial Disease
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology OMIM:300438
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis, Membranoproliferative glomerulonephr... OMIM:608709
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Fibrosarcoma, Osteosarcoma, Hi... OMIM:112250
Autosomal Agammaglobulinemia
Bronchiectasis, Verrucae, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivit... ORPHA:33110
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis ORPHA:26792
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act... OMIM:264470
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Mildly elevated creatine kinase, Elevated circulating alpha-fetoprotein concentration ORPHA:95433
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Hypopituitarism, Hepatosplenomegaly, Hypersple... ORPHA:231214
Trichohepatoenteric Syndrome 2
Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis OMIM:614602
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:613280
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo... OMIM:617872
Congenital Disorder Of Deglycosylation 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Hepat... OMIM:615273
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Multiple Endocrine Neoplasia Type 4
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Renal angiomyolipoma,... ORPHA:276152
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elevated circulating alkaline phosphatase concentration, Microvesicular hepatic steatosis, Cirrho... OMIM:300868
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c... OMIM:618805
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr... OMIM:617093
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... ORPHA:42
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... OMIM:619013
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Elevated circulating aspartate aminotransferase co... OMIM:212140
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Elevated circulating he... OMIM:617395
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Tubulointerstitial nephritis, Conjunctivitis, Recurrent skin infections, Patent duc... ORPHA:33001
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis OMIM:615918
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroid carcinoma, N... ORPHA:99880
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Cog2-Cdg
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c... ORPHA:435934
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Splenomegaly, Hepatitis ORPHA:444463
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, Arthritis, ... ORPHA:420741
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morpholog... ORPHA:143
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:264580
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Chronic oral candidiasis OMIM:212050
Legius Syndrome
Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell... ORPHA:137605
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:600649
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Recurrent aspiration pneumonia, Hydrocele testis, Blepharitis, Elevated... ORPHA:280633
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia OMIM:619063
Bloom Syndrome
Lymphoma, Azoospermia, Malar rash, Hepatic steatosis, Cryptorchidism, Squamous cell carcinoma, Le... OMIM:210900
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... OMIM:222470
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... OMIM:606002
Tuberous Sclerosis 2
Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal... OMIM:613254
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Hypocalcemia, Elevated circulating alkaline phosphatase ... ORPHA:352540
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Seborrheic d... ORPHA:96123
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular... OMIM:256810
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Acquired Generalized Lipodystrophy
Abnormal circulating lipid concentration, Lymphoma, Hepatic steatosis, Polycystic ovaries, Astroc... ORPHA:79086
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries ORPHA:79084
Primary Biliary Cholangitis
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Bil... ORPHA:186
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Maternal Uniparental Disomy Of Chromosome 2
Decreased response to growth hormone stimulation test, Elevated amniotic fluid alpha-fetoprotein,... ORPHA:96179
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Decreased activity of mitochondrial comple... ORPHA:70472
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Adrenocortical Carcinoma
Hypokalemia, Adrenocorticotropic hormone deficiency, Adrenocortical carcinoma, Lung adenocarcinoma ORPHA:1501
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:614582
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:242150
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Decreased activity of mitochondrial complex I OMIM:618234
Foxp1 Syndrome
Recurrent otitis media, Decreased circulating iron concentration, Recurrent skin infections ORPHA:391372
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Infectious encephalitis, Hematological neoplasm, ... ORPHA:1163
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Lymphoma, Splenomegaly, Infectious encephalitis, Elevated circu... OMIM:308240
Asbestos Intoxication
Malignant mesothelioma, Lung adenocarcinoma ORPHA:2302
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc... OMIM:269200
Lichen Planopilaris
Hepatitis, Neoplasm of the oral cavity ORPHA:525
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Mitochondrial swelling, Elevated circulating aspartate ... OMIM:615595
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Aceruloplasminemia
Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferritin conc... OMIM:604290
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec... OMIM:614921
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:363400
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia OMIM:615238
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Retinoblastoma
Pineoblastoma, Glioma, Osteosarcoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosa... ORPHA:790
Congenital Dyserythropoietic Anemia Type Iii
Hyperbilirubinemia, Increased circulating iron concentration, Elevated circulating hepatic transa... ORPHA:98870
Neurofibromatosis Type 1
Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom... ORPHA:636
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Hepatic steatosis OMIM:615996
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... OMIM:201450
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Keratitis, Aspiration pneumonia, Vaginal neoplasm, Diffuse leiomyomatosis, Vulv... ORPHA:1018
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly OMIM:238970
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Meningioma, Goiter, Neoplasm of the thyroid g... ORPHA:201
Mccune-Albright Syndrome
Hepatitis, Increased circulating prolactin concentration, Goiter, Cholestasis, Ovarian cyst, Hypo... ORPHA:562
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... ORPHA:79095
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat... OMIM:261680
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated ... OMIM:277900
Avian Influenza
Pneumonia, Hypoalbuminemia, Myelitis, Elevated circulating hepatic transaminase concentration, In... ORPHA:454836
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Elevated amniotic fluid alpha-fetopro... OMIM:249000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cryptorchidism, Eleva... OMIM:615381
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Decreased ... OMIM:604367
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... OMIM:212138
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Neoplasm of the pancr... ORPHA:2959
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Congenital Generalized Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hep... ORPHA:528
Adult-Onset Still Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal circulating lipid co... ORPHA:829
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Elevated circulating alkaline phosphatase concentration, Elevated circulating ... ORPHA:52430
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Hypersplenism, Hodgkin lymphoma, Glomerulonephritis, Basal cell carcinoma, ... ORPHA:3261
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypoalbuminemia, Hepatitis, Fasciitis, Osteomyelitis, Elevated circulating creatinine ... ORPHA:36234
Fanconi-Bickel Syndrome
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ... ORPHA:2088
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... ORPHA:294
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Abnormality of the mitochondrion, Cirrho... ORPHA:298
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Carcinoid tu... OMIM:610755
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen... ORPHA:39812
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hyponatremia, Hepatitis ORPHA:199296
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Mitochondrial swelling, Hyperbili... OMIM:606812
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ... OMIM:608836
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirr... ORPHA:227990
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Skin rash, Hyperammonemia, Infectious e... ORPHA:292
Combined Oxidative Phosphorylation Deficiency 27
Decreased activity of mitochondrial complex IV, Hyperammonemia, Microvesicular hepatic steatosis,... OMIM:616672
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Elevated circulating creatine kinase concentration, Hypert... ORPHA:435660
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Elevated circulating creatine kinase concentration ORPHA:352447
Griscelli Syndrome
Hepatitis, Abnormal circulating lipid concentration, Splenomegaly, Hepatomegaly, Jaundice ORPHA:381
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Chronic lymphatic leukemia, B-cell lymphoma, ... ORPHA:91139
Late-Onset Isolated Acth Deficiency
Pituitary adenoma, Hepatitis, Hyperuricemia, Hashimoto thyroiditis, Hyponatremia, Adrenocorticotr... ORPHA:199299
Legionnaires Disease
Hepatitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Pancreatitis, Myocarditis, Jaundi... ORPHA:549
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... OMIM:194380
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Hepatic steatosis, Hyperuricemia, Polycystic ovaries, Cirrhosis, Pancreatitis, Hype... ORPHA:79083
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated gamma-glutamyltransferase level, Hepatic failure, Cholestasis, Eleva... OMIM:619573
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Rheumatoid arthritis, Biliary cirr... ORPHA:227982
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehyd... OMIM:231530
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Neuroendocrine neoplasm, Meningioma, Macronodular adrenal hyperplasia, Hyperli... ORPHA:189427
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Interstitial Lung And Liver Disease
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Intraalveolar phosph... OMIM:615486
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:300536
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin... ORPHA:228308
Tuberous Sclerosis Complex
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... ORPHA:805
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc, Skin rash OMIM:601979
Glycogen Storage Disease Ixb
Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic ph... OMIM:261750
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Mildly elevated creatine kinase, Arthritis ORPHA:397744
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Elevated circulating hepatic transaminase concentration, Abnormal c... ORPHA:17
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma, Chronic rhinitis OMIM:615225
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... OMIM:231680
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Keratoconjunctivitis sicca ORPHA:43393
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Hepatic steatosis, Hypertriglyceridemia ORPHA:79085
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H... ORPHA:391487
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat... OMIM:208085
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatomegaly ORPHA:435651
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatome... ORPHA:2348
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Dermatomyositis
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:221
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Increased circulating lactate dehydrogenase concentrat... OMIM:309000
Cowden Syndrome 1
Thyroid adenoma, Subcutaneous lipoma, Meningioma, Goiter, Fibroadenoma of the breast, Ovarian car... OMIM:158350
Tuberous Sclerosis 1
Chordoma, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, ... OMIM:191100
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula... ORPHA:98907
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Decreased testicular size, Cryptor... OMIM:610198
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Hypoalbuminemia, Pustular rash, Hepatitis, Recurrent otitis media, Osteomyelitis, Skin... OMIM:619381
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepat... OMIM:619487
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni... ORPHA:169160
Slc39A8-Cdg
Abnormality of the liver, Decreased activity of mitochondrial complex IV, Decreased activity of t... ORPHA:468699
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Hypercholesterolemia, Laryngeal carcinoma, Hypertriglyceridemia, Carci... OMIM:610644
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:98908
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... OMIM:610717
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Decreased response to growth hormone stimulation test, Skin rash, Enchondro... ORPHA:1855
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration OMIM:602541
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Hepatic steatosis, Reduced cystathionine beta-synthase activity in cultured f... OMIM:236200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Abnormal circulating enzyme concentration or ... ORPHA:79259
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepati... OMIM:615207
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Abnormal ci... ORPHA:348
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration OMIM:619518
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Hypoplasia of the thymus, Enterocolitis, T-cell lym... OMIM:243150
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Elevated circulating aspartate... OMIM:616433
Chylomicron Retention Disease
Hypocholesterolemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, ... ORPHA:71
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Cowden Syndrome 6
Thyroid adenoma, Subcutaneous lipoma, Meningioma, Goiter, Fibroadenoma of the breast, Ovarian cys... OMIM:615109
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepat... OMIM:613327
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Enteroviral encephalitis, Sclerosing cholangitis, Splenomegaly, Cirrhosis, Chronic hep... OMIM:308230
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Acne ORPHA:1551
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Hepatic steatosis, Cryptorchidism ORPHA:254346
Immunodeficiency By Defective Expression Of Mhc Class Ii
Chronic mucocutaneous candidiasis, Skin rash, Sclerosing cholangitis, Acute otitis media, Decreas... ORPHA:572
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased activity of m... OMIM:611126
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Elevated circulating aspartate aminotransferase c... OMIM:617253
Barth Syndrome
Elevated monolysocardiolipin/cardiolipin ratio, Abnormal mitochondrial morphology OMIM:302060
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Portal fibrosis, Eczematoid dermatitis, Elevated circulatin... ORPHA:3260
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul... ORPHA:470
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Hepatome... OMIM:201100
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Increased serum... OMIM:619377
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormal circulating selenium concentration, Cutaneous melanoma, Squamous cell carcinoma, Glomeru... ORPHA:79408
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Portal hypertension, Splenomegaly, Hashimoto thyroiditis, Hepatomegaly OMIM:613385
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... OMIM:620565
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid carcinoma, Duodena... ORPHA:157794
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc... OMIM:212065
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease... OMIM:203800
Cryoglobulinemic Vasculitis
Abnormality of the liver, Splenomegaly, Keratoconjunctivitis sicca, Arthritis, Hepatomegaly, Vira... ORPHA:91138
Melioidosis
Pneumonia, Cutaneous abscess, Foot osteomyelitis, Hepatitis, Parotitis, Abnormality of the spleen... ORPHA:31202
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Cirrhos... ORPHA:228426
Zygomycosis
Nephritis, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, Enterocolitis, Pa... ORPHA:73263
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Nephritis, Recurrent pneumonia, Splenomegaly, Hepatomegaly, Macrovesicular hepat... OMIM:617303
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of... OMIM:500013
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hepatic s... ORPHA:412
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, ... OMIM:210200
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne... ORPHA:99889
Zinc Deficiency, Transient Neonatal
Eczematoid dermatitis, Decreased serum zinc OMIM:608118
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Decreased activity of mitochondrial complex I OMIM:615578
Q Fever
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... ORPHA:781
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Hypocalcemia, Chronic hepatic failure, Hypoparathyroidism, Diffuse hepatic steatosis ORPHA:746
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea... ORPHA:444490
Isolated Sedoheptulokinase Deficiency
Cholestasis, Portal hypertension, Hepatitis, Cholestatic liver disease ORPHA:440713
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Erythroderma, Glomerulonephritis, Arthritis OMIM:304790
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Infectious encephalitis, Biliary tract abnormality, Colitis, C... OMIM:209920
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration ORPHA:521411
Monosomy 13Q34
Hypercalcemia, Hepatic steatosis ORPHA:96168
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce... OMIM:615846
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Hypocalcemic tetany, Aplasia of the thymus, Atypical or prolong... ORPHA:83471
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Elevated... OMIM:615356
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa... OMIM:261515
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Primrose Syndrome
Bilateral cryptorchidism, Cryptorchidism, Elevated circulating alpha-fetoprotein concentration OMIM:259050
Sotos Syndrome
Small cell lung carcinoma, Hydrocele testis, Neoplasm, Cryptorchidism, Cholesteatoma, Astrocytoma... ORPHA:821
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... OMIM:124000
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration OMIM:620306
Copper Deficiency, Familial Benign
Seborrheic dermatitis, Decreased circulating copper concentration OMIM:121270
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteom... ORPHA:2552
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypomagnesemia, Exocrin... ORPHA:699
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Hyperalaninemia, Mitochondrial swelling OMIM:618250
Dilated Cardiomyopathy With Ataxia
Bilateral cryptorchidism, Elevated circulating hepatic transaminase concentration, Elevated circu... ORPHA:66634
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pan... ORPHA:280365
Atypical Werner Syndrome
Neoplasm of the skin, Neoplasm of the oral cavity, Meningioma, Neoplasm of the thyroid gland, Hep... ORPHA:79474
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hyperuricemia, Hyperlipidemia, H... OMIM:232240
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio... OMIM:613658
Primary Sjögren Syndrome
Arteritis, Biliary cirrhosis, Lymphoma, Parotitis, Chronic active hepatitis, Lymphocytic intersti... ORPHA:289390
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Exostoses, Pelvic bone exostoses, Bladder carc... OMIM:304150
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hepatic steatosis, H... OMIM:229600
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:445038
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... ORPHA:48435
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Neurofibromatosis, Type I
Neurofibroma, Meningioma, Rhabdomyosarcoma, Pheochromocytoma, Plexiform neurofibroma, Astrocytoma... OMIM:162200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid... OMIM:240300
Garg-Mishra Progeroid Syndrome
Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis OMIM:620601
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Decreased muscle glycogen content ORPHA:263297
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Hyperuricemia, Lipid acc... ORPHA:20
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hepatic steatosis, Polycystic ovaries, Hypercholesterole... OMIM:151660
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Increased level of propylene glycol in blood, Cirrhosi... OMIM:215600
Kawasaki Disease
Hypoalbuminemia, Hepatitis, Conjunctivitis, Skin rash, Cholecystitis, Elevated circulating C-reac... ORPHA:2331
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis ORPHA:584
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma, Paragang... ORPHA:139411
Ebola Hemorrhagic Fever
Maculopapular exanthema, Acute pancreatitis, Hepatitis ORPHA:319218
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Decreased response to growth hormone stimulation tes... OMIM:307200
Chronic Mucocutaneous Candidiasis
Skin rash, Cheilitis, Hepatitis ORPHA:1334
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Hepatic steatosis OMIM:616271
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hypoalbuminemia, Eczematoid dermatitis, Recurrent otitis media, Hypoch... OMIM:270400
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Schwannoma, Lisch nodules, Hemangioma, Optic nerve glioma, Sinusitis, Spinal n... ORPHA:363700
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys... OMIM:269700
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis OMIM:619273
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co... ORPHA:355
Acute Disseminated Encephalomyelitis
Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis ORPHA:83597
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis ORPHA:436271
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha... ORPHA:319251
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Neurofibroma, Osteomyelitis, Hyperbiliru... OMIM:619475
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Increased circulating lactate dehydrogenase concentrati... ORPHA:447
Occipital Horn Syndrome
Hepatitis, Cholestasis, Esophagitis, Exostoses, Jaundice ORPHA:198
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys... OMIM:608594
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration OMIM:616959
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Inflammation of the large intestine, Elevated circul... ORPHA:99226
1P36 Deletion Syndrome
Annular pancreas, Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Cryptor... ORPHA:1606
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa... OMIM:616263
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:619525
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti... ORPHA:728
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Leptospirosis
Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infections, Optic neuritis, He... ORPHA:509
Aromatase Deficiency
Hyperlipidemia, Hepatic steatosis, Cryptorchidism, Enlarged polycystic ovaries, Macroorchidism, p... ORPHA:91
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased intramyocellular lipid droplets, Decreased liver function, Increased hepa... OMIM:220110
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... ORPHA:90062
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Hashimoto thyroiditis, Hypoplasia of the ... ORPHA:436252
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatomegaly, Unco... OMIM:618278
Digeorge Syndrome
Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Recurrent otitis media, Hepatic stea... OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus, Hepatic steatosis OMIM:619934
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:319213
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Ogden Syndrome
Eczematoid dermatitis, Recurrent otitis media, Decreased testicular size, Hyperbilirubinemia, Cry... OMIM:300855
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Hypoplasia of the ovary, Azotemia, Hepatic steatosis OMIM:619321
Bardet-Biedl Syndrome
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... ORPHA:110
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Increased circulating prolactin concentration, Aspirati... ORPHA:438213
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Hypertriglyceridemia, Hepatomegaly, Elev... OMIM:619127
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Atopic dermatitis, Hypomagnesemia, Recurrent otitis media, Cholestasis, He... OMIM:619503
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Decreased activity of mitochondrial complex IV, Hyperammonemia, Microvesicular hepatic steatosis,... OMIM:220111
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Recurrent otitis media, Decreased response to grow... ORPHA:3455
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Alström Syndrome
Elevated gamma-glutamyltransferase level, Testicular fibrosis, Hepatosplenomegaly, Hepatic steato... ORPHA:64
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis ORPHA:391665
Wrinkly Skin Syndrome
High nonceruloplasmin-bound serum copper, Cryptorchidism ORPHA:2834
Auditory Neuropathy And Optic Atrophy
OMIM:617717

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 Fdxr

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 Fdxr.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fdxrtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fdxrem1(IMPC)Bay Exon Deletion Mice
Fdxrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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