banner
Genes Phenotypes Help, News, Blog

Gene: Letmd1 MGI:1915864

Log in to follow

Gene Summary

Name:
LETM1 domain containing 1
Synonyms:
1110019O13Rik,  HCCR-2,  HCCR1

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
increased freezing behavior Letmd1em1(IMPC)Kmpc HOM Late adult 6.25×10-05
decreased prepulse inhibition Letmd1em1(IMPC)Kmpc HOM Late adult 5.68×10-05
increased total body fat amount Letmd1em1(IMPC)Kmpc HOM Late adult 7.63×10-07
decreased bone mineral density Letmd1em1(IMPC)Kmpc HOM Late adult 1.19×10-05
increased freezing behavior Letmd1em1(IMPC)Kmpc HOM Early adult 1.42×10-05
increased fasting circulating glucose level Letmd1em1(IMPC)Kmpc HOM Early adult 1.12×10-05
increased heart weight Letmd1em1(IMPC)Kmpc HOM Late adult 7.96×10-06
decreased startle reflex Letmd1em1(IMPC)Kmpc HOM   Late adult 1.55×10-05

Download data as:  TSV  XLS

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

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.

Eye Morphology

Images Slit Lamp

3 Images

View images
Eye Morphology

Images Slit Lamp

1 Images

View images

Human diseases caused by Letmd1 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 Letmd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatomegaly, Reduced subcutaneous adipose tissue, Hepatosplenomegaly,... OMIM:612526
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:613877
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Maternal diabetes, Loss... OMIM:604367
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous ... ORPHA:280356
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Lipodystrophy, Partial, Acquired, Susceptibility To
Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipose tissue, Loss of s... OMIM:608709
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Increased intraabdominal fat, Lipodystrophy, Insulin resistance, Hepatic steatosis,... ORPHA:79085
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Abdominal obesity, Diabetes mellitus, Hepatic steatosis OMIM:615980
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Hepatic steatosis, Type II diabetes mellitus OMIM:615703
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne... ORPHA:435660
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Generalized lipodystrophy, Hyperinsulinemia, Hepatomegaly, Reduced subcutaneous adipos... ORPHA:363400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Loss of subcutaneous adipo... OMIM:615381
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne... OMIM:608600
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Loss of subcutaneous adipo... ORPHA:79083
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom... OMIM:614480
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissue in limbs, Cellulitis... ORPHA:2348
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Fever, Failure to thrive, Hypoglycemia, Hepatic steatosis, Hepatic failure OMIM:617872
Diarrhea 13
Failure to thrive, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Re... OMIM:620357
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Loss of subcutaneous adi... ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Failure to thrive, Adipose tissue loss, Lipodystrophy,... ORPHA:528
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Left ventricular hyper... OMIM:619048
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatomegaly, Hepatic steatosis, Lipodystrophy OMIM:615238
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... OMIM:232700
Lipodystrophy, Familial Partial, Type 2
Increased intramuscular fat, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissue, Hepat... OMIM:151660
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia OMIM:222100
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypothermia, Per... OMIM:251880
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Generalized lipodystrophy, Panniculitis, Hepatomegaly, Acute pancrea... ORPHA:79086
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis OMIM:620195
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Mandibuloacral Dysplasia
Lipoatrophy, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose ti... ORPHA:2457
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:618400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Riboflavin Deficiency
Hypoglycemia, Hypothermia OMIM:615026
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hepatic steatosis, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissue i... ORPHA:280365
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Elev... OMIM:245400
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Ddost-Cdg
Failure to thrive, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Li... ORPHA:300536
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Hypothermia, Umbilical hernia ORPHA:95717
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Failure ... OMIM:613327
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Impaired gluconeogenesis, Microvesicular hepatic steatosis, Reduced muscle carnitin... OMIM:212140
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Resting tremor, Hyperactivity, Tremor, Ab... ORPHA:3077
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypothermia, Fasting hypog... ORPHA:159
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:616829
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Knee flexion co... OMIM:214150
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Placental Insufficiency
Insulin resistance, Hypoxemia, Small for gestational age ORPHA:439167
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:619386
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal fibrosis... ORPHA:369
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis ORPHA:210548
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Hypothermia, Elevated circulating hepatic transaminase concentration, M... OMIM:618329
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc... ORPHA:3163
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Enlarged ovaries, Increase... ORPHA:2298
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Elevated circulating alanine a... OMIM:278000
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... OMIM:618805
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Hypothermia, Prolonged neonatal jaundice, Umbilical hernia ORPHA:226313
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypothermia, Acu... ORPHA:20
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity, Hyperinsulinemia OMIM:617885
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... OMIM:608594
Primary Erythromelalgia
Hypothermia ORPHA:90026
Seckel Syndrome 10
Glucose intolerance, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanine... OMIM:617253
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
Sepsis In Premature Infants
Decreased liver function, Jaundice, Hepatomegaly, Hypothermia, Decreased body weight, Temperature... ORPHA:90051
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Hypothermia, Inguinal hernia OMIM:614498
Familial Multiple Lipomatosis
Insulin resistance, Increased adipose tissue, Lipodystrophy ORPHA:199276
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:369840
Timothy Syndrome
Cardiomegaly, Hypoglycemia, Hypothermia OMIM:601005
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Hypothermia, Umbilical hernia ORPHA:95716
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... OMIM:614582
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Enlarged kidney, Enlarged polycystic ovaries, Insulin-resistant diabetes mell... ORPHA:90301
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegal... OMIM:269700
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... ORPHA:101330
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Irritability, Postprandial hyperglycemia ORPHA:2089
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis OMIM:615996
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis ORPHA:70472
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Splenomegaly... OMIM:261750
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Porta... ORPHA:264580
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age ORPHA:73272
Werner Syndrome
Lipoatrophy, Slender build, Type II diabetes mellitus, Lipodystrophy, Insulin resistance, Chondro... ORPHA:902
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Hepatic steatosis ORPHA:209919
Whipple Disease
Hepatomegaly, Cachexia, Fever, Splenomegaly, Insulin resistance ORPHA:3452
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:201450
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatocellular necrosis, Cardiomegaly... OMIM:201475
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Camptodactyly, Failure to ... ORPHA:79322
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:605911
Congenital Enterovirus Infection
Hypothermia, Cholestasis, Fever, Fetal ascites, Hepatitis, Hepatic failure ORPHA:292
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Hypothermia, Elbow flexion contracture, Fever, Obesity, Hi... OMIM:618493
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat... OMIM:617093
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Monosomy 13Q34
Insulin resistance, Obesity, Hepatic steatosis ORPHA:96168
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypothermia, Failure to th... ORPHA:17
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Hyperactivity, Asymmetric septal hypertrophy, Joint stiffness, Sple... OMIM:252920
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, Lack of facial... ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Obesity, Cholesterol gall... ORPHA:209902
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesi... OMIM:608836
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Glucose intolerance, Hy... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Enlarged ovaries, Impaired glucose tolerance, Reduced subcutaneous adipose ... ORPHA:769
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypogly... OMIM:613027
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:212138
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Impaired gluc... OMIM:606721
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia, Hypothermia ORPHA:230
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micr... OMIM:619418
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Cholelithiasis OMIM:619273
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic ... ORPHA:263455
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Small for gestational age, Cholelithiasis OMIM:618775
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hypothermia OMIM:237310
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:541423
Gracile Syndrome
Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis ORPHA:53693
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly OMIM:619013
Meningococcal Meningitis
Fever, Hypothermia ORPHA:33475
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Hepatic steatosis OMIM:231680
Aromatase Deficiency
Enlarged polycystic ovaries, Eunuchoid habitus, Obesity, Type II diabetes mellitus, Insulin resis... ORPHA:91
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Dorsocervical fat pad, Abdominal obesity, Glucose intolerance, Hepatic ste... ORPHA:189427
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Failur... OMIM:614300
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferas... OMIM:610198
Genetic Transient Congenital Hypothyroidism
Prolonged neonatal jaundice, Hypothermia, Umbilical hernia ORPHA:226316
Silver-Russell Syndrome
Cachexia, Failure to thrive in infancy, Obesity, Recurrent hypoglycemia, Insulin resistance ORPHA:813
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia, Failure to thri... ORPHA:99901
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Red... ORPHA:508
Menkes Disease
Hypothermia OMIM:309400
Leukodystrophy, Hypomyelinating, 13
Irritability, Joint contracture, Exaggerated startle response OMIM:616881
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Exaggerated startle response OMIM:618201
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Obesity, Diabetes mellitus, Hepatic steatosis ORPHA:412
Familial Chylomicronemia Syndrome
Jaundice, Decreased body weight, Acute pancreatitis, Failure to thrive, Hepatosplenomegaly, Recur... ORPHA:444490
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy ORPHA:90154
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypoglycemia, Acute hepatic steatosis OMIM:210200
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Obesity, Insulin resistance, Left ventricular hypertrophy, Abdominal o... OMIM:209900
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Diabetes mellitus, Truncal obesity, Inguinal hernia OMIM:616541
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Ascite... OMIM:619487
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Pancreatic fibrosis, Failure to thrive, Achilles tendon contracture, Exocrine pancr... OMIM:616263
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee... OMIM:300972
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Hypothermia, Umbilical hernia ORPHA:90673
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Sple... OMIM:610717
Menkes Disease
Hypothermia, Inguinal hernia, Prolonged neonatal jaundice, Umbilical hernia, Atypical scarring of... ORPHA:565
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Pancreatitis, Hepatic steatosis, Inguinal hernia OMIM:236200
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... OMIM:611126
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Hepatomegaly, Elevated circulating hepatic transam... OMIM:212065
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Chylomicron Retention Disease
Failure to thrive, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, In... ORPHA:71
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Hypothermia, Fever, Failure to thrive, Hepatic failure ORPHA:255210
Citrullinemia Type Ii
Decreased body mass index, Pancreatitis, Elevated circulating hepatic transaminase concentration,... ORPHA:247585
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Diffuse hepatic steatosis ORPHA:436271
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Hypothermia, Prolonged neonatal jaundice, Umbilical hernia ORPHA:90674
Alexander Disease
Failure to thrive, Diabetes mellitus, Hypothermia ORPHA:58
19P13.12 Microdeletion Syndrome
Obesity, Arthrogryposis multiplex congenita, Hepatic steatosis ORPHA:254346
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... ORPHA:125
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Tremor, Exaggerated startle response, Limb joint contracture, Atrial septal... OMIM:620327
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Increased adipose tissue around the neck, Loss of subcutaneous ad... OMIM:248370
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion contracture, Dy... OMIM:617301
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Failure to thrive, Hypoglycemia, Jaundice, Hypothermia ORPHA:79282
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis OMIM:614922
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Joint contracture, Exaggerated startle response OMIM:617864
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Chronic hepatic failure, Cholestasis, Left ventricular hypertrophy, Fai... ORPHA:746
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis, Flexion contracture OMIM:616271
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Incr... ORPHA:98908
Alstrom Syndrome
Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chronic ... OMIM:203800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia, Prolonged neonatal jaundice, Umbilical hernia, Hypoglycemia, Overweight ORPHA:226307
Hyperekplexia 2
Hiatus hernia, Exaggerated startle response OMIM:614619
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Exaggerated startle response OMIM:609541
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Agitation, Abnormal fear-induced behavior, Depression, Restlessness ORPHA:100924
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Exaggerated startle response OMIM:620114
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Increased intramyocellular... OMIM:220110
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Fetal ascites... OMIM:261515
Stiff-Person Syndrome
Depression, Opisthotonus, Exaggerated startle response OMIM:184850
Citrullinemia, Type Ii, Neonatal-Onset
Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Portal fibrosis, Microvesi... OMIM:605814
Occipital Horn Syndrome
Scarring, Jaundice, Hypothermia, Inguinal hernia, Cholestasis, Femoral hernia, Atypical scarring ... ORPHA:198
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Exaggerated startle response ORPHA:320406
Hyperekplexia 3
Hiatus hernia, Exaggerated startle response OMIM:614618
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly, Hepatic calcification, Hepatic steatosis, H... ORPHA:228308
Acth-Independent Macronodular Adrenal Hyperplasia 2
Depression, Hyperglycemia OMIM:615954
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Umbilical hernia OMIM:149400
Osteootohepatoenteric Syndrome
Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Failure to thrive, Prolonged neon... OMIM:619377
Orthostatic Hypotension 1
Neonatal hypoglycemia, Intermittent hypothermia OMIM:223360
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Insulin resistance, Small for gestational age, Fasting hypoglycemia ORPHA:96182
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia, Elevated circulating hepatic transaminase concentration, Fever, Obesity, Hyperglycem... ORPHA:293987
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Failure to thrive, Type II diabetes mellitus, Diabet... ORPHA:358
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, In... ORPHA:98907
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
Wilson Disease
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Elevated c... OMIM:277900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Fructose Intolerance, Hereditary
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Glyco... OMIM:229600
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inguinal hernia, Elevated ... OMIM:619525
Adult-Onset Autosomal Dominant Leukodystrophy
Hypothermia, Flexion contracture, Temperature instability ORPHA:99027
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ste... ORPHA:404454
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Agitation, Exaggerated startle response OMIM:618056
Ethylene Glycol Poisoning
Cyanosis, Hypothermia ORPHA:31826
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly, Flexion contracture OMIM:617303
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Enlarged kidney, Incre... ORPHA:79259
Neuroleptic Malignant Syndrome
Fever, Hypothermia, Elevated circulating hepatic transaminase concentration ORPHA:94093
Pearson Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreatic fibrosis, Glyco... ORPHA:699
Atypical Werner Syndrome
Lipoatrophy, Generalized lipodystrophy, Hyperinsulinemia, Decreased body weight, Failure to thriv... ORPHA:79474
Tbck-Related Intellectual Disability Syndrome
Hypothermia ORPHA:488632
Tay-Sachs Disease
Limited elbow extension, Depression, Tremor, Limited knee extension, Exaggerated startle response... ORPHA:845
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response, Mitral valve prolapse ORPHA:309155
Immunodeficiency 87 And Autoimmunity
Jaundice, Hepatomegaly, Cholestasis, Ascites, Elevated circulating alanine aminotransferase conce... OMIM:619573
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Ascites, Biliary hyperplasia, Splenomega... OMIM:619991
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transaminas... ORPHA:66634
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:93111
Mandibuloacral Dysplasia Progeroid Syndrome
Generalized lipodystrophy, Elevated circulating hepatic transaminase concentration, Macrovesicula... OMIM:619127
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Exaggerated startle response, Partial atrioventricular ca... OMIM:620423
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Exaggerated startle response OMIM:268800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Transposition of the great arteries, Exaggerated startle response, Pulmonic stenosis, Myocardial ... OMIM:253800
Bloom Syndrome
Type II diabetes mellitus, Hepatic steatosis, Small for gestational age OMIM:210900
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Glucose intolerance, Abnormal fear-induced behavior, Impaired glucose tolerance OMIM:219090
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thri... ORPHA:14
Marburg Hemorrhagic Fever
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypothermia, Fev... ORPHA:99826
Sarcoidosis
Decreased liver function, Scarring, Abnormal liver parenchyma morphology, Hepatomegaly, Hypotherm... ORPHA:797
Lysosomal Acid Lipase Deficiency
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Cach... ORPHA:275761
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hepatitis, Fever, Splenomegaly, Weight loss, Hepatic steatosis OMIM:615846
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Impaired fasting glucose, Elevated circulating hepatic transamin... ORPHA:110
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... ORPHA:247598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:615356
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Impaired oropharyngeal swa... ORPHA:521426
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Absence of subcutaneous fat, Weight loss, Insulin resistance, Cyanosis ORPHA:740
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi... OMIM:300868
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Steinert Myotonic Dystrophy
Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Insuli... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase... ORPHA:99226
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Failure to thrive, Hepatocellular necrosis, Hepat... OMIM:618278
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Umbilical hernia OMIM:218700
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, D... OMIM:619475
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Congenital generalized lipodystrophy, Fever, Reduced subcutaneous adipose tissue, Fa... ORPHA:3455
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Cardiomyopathy, Exaggerated startle response, Hepatosplenome... ORPHA:79255
Ogden Syndrome
Enlarged kidney, Jaundice, Maternal diabetes, Macrovesicular hepatic steatosis, Inguinal hernia, ... OMIM:300855
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Dysphagia, Exaggerated startle response OMIM:617527
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Arima Syndrome
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:243910
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Hereditary Sensory And Autonomic Neuropathy Type 4
Hypothermia, Corneal scarring, Unexplained fevers, Recurrent fever, Atypical scarring of skin, Fa... ORPHA:642
Asparagine Synthetase Deficiency
Irritability, Tremor, Exaggerated startle response OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Abnormal liver parenchyma morphology, Hyperinsulin... ORPHA:79318
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Inguinal hernia, Elbow flexion contracture, Cholestasis, Portal hypertension, Reduced subcutaneou... OMIM:619503
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Patent foramen ovale, Exaggerated startle response, Osteoporosis, Pulmonic stenosis, ... ORPHA:438213
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Failure to thrive, Splenomegaly, Hepatic stea... OMIM:270400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Failu... OMIM:220111
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Alström Syndrome
Cirrhosis, Hyperinsulinemia, Abnormal liver physiology, Elevated circulating hepatic transaminase... ORPHA:64
1P36 Deletion Syndrome
Annular pancreas, Camptodactyly of finger, Failure to thrive, Obesity, Abnormality of the spleen,... ORPHA:1606
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hepatic steatosis, Flexion contracture OMIM:619321
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Dysphagia, Exaggerated startle response OMIM:618367
Digeorge Syndrome
Inguinal hernia, Cholelithiasis, Femoral hernia, Obesity, Splenomegaly, Umbilical hernia, Hepatic... OMIM:188400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Patent foramen ovale, Corneal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Patent foramen ovale, Corneal ... ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder, Dysphagia, Motor stereoty... OMIM:619522
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665

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 Letmd1

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 Letmd1.

No publications found that use IMPC mice or data for Letmd1.

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
Letmd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Letmd1em1(IMPC)Kmpc Indel Mice
Letmd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter