Gene Summary

Name:
cytochrome P450, family 2, subfamily e, polypeptide 1
Synonyms:
Cyp2e

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal tooth morphology Cyp2e1tm1b(KOMP)Wtsi HOM   Early adult 4.16×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 50% (1 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
White adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 3)
Brain N/A homozygote 0.0% (0 of 3)
Ear N/A heterozygote 0.0% (0 of 3)
Ear N/A homozygote 0.0% (0 of 3)
Embryo N/A heterozygote 0.0% (0 of 3)
Embryo N/A homozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Eye N/A homozygote 0.0% (0 of 3)
Footplate N/A heterozygote 0.0% (0 of 3)
Footplate N/A homozygote 0.0% (0 of 3)
Forebrain N/A heterozygote 0.0% (0 of 3)
Forebrain N/A homozygote 0.0% (0 of 3)
Forelimb N/A heterozygote 0.0% (0 of 3)
Forelimb N/A homozygote 0.0% (0 of 3)
Handplate N/A heterozygote 0.0% (0 of 3)
Handplate N/A homozygote 0.0% (0 of 3)
Head N/A heterozygote 0.0% (0 of 3)
Head N/A homozygote 0.0% (0 of 3)
Heart N/A heterozygote 0.0% (0 of 3)
Heart N/A homozygote 0.0% (0 of 3)
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A homozygote 0.0% (0 of 3)
Hindlimb N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A homozygote 0.0% (0 of 3)
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote 0.0% (0 of 3)
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote 0.0% (0 of 3)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A homozygote 0.0% (0 of 3)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A homozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Midbrain N/A homozygote 0.0% (0 of 3)
Oral cavity N/A heterozygote 0.0% (0 of 3)
Oral cavity N/A homozygote 0.0% (0 of 3)
Skin N/A heterozygote 0.0% (0 of 3)
Skin N/A homozygote 0.0% (0 of 3)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail somite N/A homozygote 0.0% (0 of 3)
Tail N/A heterozygote 0.0% (0 of 3)
Tail N/A homozygote 0.0% (0 of 3)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

Adult LacZ

LacZ Images Wholemount

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Cyp2e1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cyp2e1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Taurodontia, Generalized microdontia OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Taurodontism
Taurodontia OMIM:272700
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Gigantiform Cementoma, Familial
Cementoma, Multiple impacted teeth, Tooth malposition OMIM:137575
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Dental malocclusion, Widely spaced teeth OMIM:616108
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta OMIM:245660
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, ... OMIM:273050
Tooth Agenesis, Selective, X-Linked, 1
Oligodontia, Hypodontia, Agenesis of premolar, Selective tooth agenesis, Aplasia of the maxilla, ... OMIM:313500
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Enamel hypoplasia OMIM:614564
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Abnormal mandible morphology OMIM:217150
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Jalili Syndrome
Amelogenesis imperfecta, Carious teeth OMIM:217080
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Pycnodysostosis
Persistence of primary teeth, Hypodontia, Carious teeth, Micrognathia, Delayed eruption of primar... OMIM:265800
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Premature loss of teeth OMIM:161000
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:610717
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Epidermolysis Bullosa, Junctional 1A, Intermediate
Hypodontia, Carious teeth, Oral mucosal blisters OMIM:226650
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Micrognathia, Malar flat... OMIM:129540
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:617872
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Rubinstein-Taybi Syndrome 2
High palate, Carious teeth, Micrognathia, Increased overbite, Retrognathia, Dental malocclusion, ... OMIM:613684
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Shovel-shaped maxillary central incisors, Dental crowding, Increased overbite, Enamel hypoplasia OMIM:600907
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Oral mucosal blisters, Enamel hypoplasia ORPHA:79405
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Microdontia, Widely spac... ORPHA:3352
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... OMIM:619048
Eem Syndrome
Microdontia, Carious teeth, Widely spaced teeth, Abnormality of dental morphology, Selective toot... ORPHA:1897
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Decreased liver function, Portal fibrosis, Elevated hepatic trans... OMIM:614300
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis OMIM:615703
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Hepatic steatosis OMIM:300270
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Hemochromatosis, Type 4
Cirrhosis, Hepatic steatosis, Hepatomegaly OMIM:606069
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Supernumerary tooth ORPHA:3145
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:369840
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619386
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Deple... OMIM:251880
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615438
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Pan... OMIM:618805
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Prolonged neonatal jaundic... OMIM:256810
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Jaund... ORPHA:64743
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration, Cholestasis ORPHA:53693
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Hepati... ORPHA:905
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Decreased carnitine level in liver OMIM:212140
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Acute hepatic steatosis, Hepatitis, Macro... ORPHA:209902
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... OMIM:614582
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia OMIM:226700
Medullary Thyroid Carcinoma
Medullary thyroid carcinoma, Neoplasm of the skeletal system, Pheochromocytoma, Neoplasm of the l... ORPHA:1332
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Hematological neoplasm, Periportal fibrosis, Chronic hepatiti... ORPHA:101330
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase OMIM:619013
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
Ddost-Cdg
Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:255120
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis OMIM:615980
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Splenomegaly, Hepatomegaly, Portal fibrosis, Elevated hepatic tra... ORPHA:370
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Decreased liver function, Hepatomegaly, Hepatic steatosis ORPHA:42
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hepatomegaly OMIM:615238
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure OMIM:231530
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Elevated hepatic tran... ORPHA:2137
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:600649
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615381
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hepatocellular necrosis, Periportal fibrosis OMIM:201475
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Splenomegaly, Hepatomegaly, Portal fibrosis, Elevated hepatic tra... ORPHA:264580
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis ORPHA:79322
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis OMIM:604367
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:261680
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly ORPHA:79085
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Splenomegaly, Hepatomegaly, Pancreatitis, Cirrhosis ORPHA:79083
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:435651
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly ORPHA:228305
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase ORPHA:71
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:2348
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:528
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminas... ORPHA:541423
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Chronic hepatitis... OMIM:614921
Interstitial Lung And Liver Disease
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:615486
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Citrullinemia Type Ii
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Pancreatitis, Hepatocellular carc... ORPHA:247585
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic transaminase ORPHA:298
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Hepatic periportal necrosis, Jaundice OMIM:231680
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Lymphoma, Hepatomegaly, Astrocytoma, Cirrhosis ORPHA:79086
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Splenomegaly, Pancreatitis ORPHA:90970
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Hepatomegaly, Ele... OMIM:619487
Amelogenesis Imperfecta, Type Ig
Amelogenesis imperfecta, Delayed eruption of permanent teeth, Dagger-shaped pulp calcifications, ... OMIM:204690
Enamel-Renal Syndrome
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... ORPHA:1031
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:212138
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Elevated hepatic transaminase, Neoplasm, Neoplasm of the pancreas ORPHA:2959
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly ORPHA:435660
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Elevated hepatic transaminase OMIM:611126
19P13.12 Microdeletion Syndrome
Hepatic steatosis ORPHA:254346
Alstrom Syndrome
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis OMIM:203800
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Cardiac myxoma, Testicular neoplasm, Pituitary adenoma, Elevated hepatic trans... ORPHA:189439
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:348
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatic fibrosis, Elevated hepatic transaminase, Hepatomegaly OMIM:212065
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:98907
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase ORPHA:99901
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia OMIM:180920
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly, Hepatic steatosis OMIM:613327
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase ORPHA:71212
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Elevate... OMIM:203700
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Elevated hepatic transaminase ORPHA:445038
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Aplasia/Hypoplasia of t... ORPHA:456312
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentratio... OMIM:617253
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating alanine aminotransferase concentration, Lipid accumulation in hepatocytes, E... OMIM:608836
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Meningioma, Pituitary adenoma, Neuroendocrine neoplasm, Renal cell carcinoma ORPHA:189427
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Portal fibrosis, Hepa... OMIM:619377
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholestasis, Cholangitis, Decreased liver function, Elevated he... OMIM:124000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Hepatic steatosi... ORPHA:93111
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Pancreatic fibrosis OMIM:616263
D-Bifunctional Protein Deficiency
Hepatic steatosis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Elevated hep... OMIM:261515
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:280365
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Diffuse hepatic steatosis, Decreased liver function, Hepatomegaly ORPHA:436271
Monosomy 13Q34
Hepatic steatosis ORPHA:96168
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hepatomegaly ORPHA:412
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hepatic calcification, Hepatomegaly ORPHA:228308
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:617303
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Jaundice ORPHA:444490
Diaphanospondylodysostosis
Nephroblastomatosis, Abnormal liver lobulation OMIM:608022
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased liver function, Elevated hep... OMIM:618329
Mitochondrial Trifunctional Protein Deficiency
Chronic hepatic failure, Diffuse hepatic steatosis, Cholestasis ORPHA:746
Abetalipoproteinemia
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis ORPHA:14
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615356
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly OMIM:243910
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Elevated hepatic transaminase ORPHA:66634
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoplastic spleen, Hepatic steatosis, Hepatic failure, Abnorm... ORPHA:699
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:619573
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase,... OMIM:608594
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Elevated hepatic t... ORPHA:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased hepatocellular lipid droplets, Decreased liver function, Hepatomegaly OMIM:220110
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Increased hepatic glycogen content, Hepatomegaly, Pancreatitis, Hepatocellular... ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Hepatic steatosis, Hepatomegaly OMIM:151660
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase,... OMIM:269700
Fructose Intolerance, Hereditary
Hepatic steatosis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis OMIM:229600
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... OMIM:619525
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Fatal liver failure in inf... ORPHA:275761
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Portal hypertension, Cholestasis, Bile duct proliferation, Decreased liver fun... OMIM:613658
Neutral Lipid Storage Myopathy
Hepatic steatosis, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Elevated hepatic transaminase ORPHA:98908
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:17
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic tran... ORPHA:247598
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of... ORPHA:404454
Atypical Werner Syndrome
Hepatic steatosis, Renal neoplasm, Neoplasm of the breast, Osteosarcoma, Meningioma, Ovarian neop... ORPHA:79474
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Neurofibromas, Jaundice, Aortic aneurysm, Elevated hepatic transaminase OMIM:619475
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Hepatic steatosis, Biliary cirrhosis, Melanoma, Gonadoblastoma, Elevated he... ORPHA:99413
Turner Syndrome
Aortic arch aneurysm, Hepatic steatosis, Biliary cirrhosis, Melanoma, Gonadoblastoma, Elevated he... ORPHA:881
Mosaic Monosomy X
Aortic arch aneurysm, Hepatic steatosis, Biliary cirrhosis, Melanoma, Gonadoblastoma, Elevated he... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Hepatic steatosis, Biliary cirrhosis, Melanoma, Gonadoblastoma, Elevated he... ORPHA:99226
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice OMIM:228100
1P36 Deletion Syndrome
Aortic arch aneurysm, Hepatic steatosis, Abnormality of the liver, Neuroblastoma, Abnormality of ... ORPHA:1606
Aromatase Deficiency
Hepatic steatosis ORPHA:91
Mandibuloacral Dysplasia Progeroid Syndrome
Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:619127
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis OMIM:619321
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Cholestasis OMIM:619503
Sarcoidosis
Hepatic failure, Portal hypertension, Decreased liver function, Hepatomegaly, Abnormal liver pare... ORPHA:797
Digeorge Syndrome
Cholelithiasis, Hepatic steatosis, Splenomegaly OMIM:188400
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis ORPHA:3455
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665
Alström Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Hepato... ORPHA:64
Pmm2-Cdg
Hepatic fibrosis, Elevated hepatic transaminase, Abnormal liver parenchyma morphology ORPHA:79318

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 Cyp2e1

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 Cyp2e1.

No publications found that use IMPC mice or data for Cyp2e1.

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MGI Allele Allele Type Produced
Cyp2e1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cyp2e1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cyp2e1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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