Gene Summary

Name:
neuropeptides B/W receptor 1
Synonyms:
Gpr7

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.

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Npbwr1 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 Npbwr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity And Hypopigmentation
Polyphagia, Obesity, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Hyperinsu... ORPHA:324575
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276580
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Large for ... ORPHA:276575
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Large for ge... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia... OMIM:617885
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Obesity Due To Sim1 Deficiency
Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabet... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia ORPHA:2274
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Graves Disease
Abnormal abdomen morphology, Graves disease, Goiter, Increased circulating free T3, Polyphagia, W... OMIM:275000
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficienc... OMIM:609734
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus, Hepatic steatosis, Hypercholesterolemia, ... OMIM:615703
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive, Re... OMIM:620357
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... OMIM:617872
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia, Progressive cerebellar ataxia ORPHA:67046
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, F... ORPHA:35878
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan... OMIM:608600
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Gait ataxia, Hepatic steatosis, Hypertriglyceridemia, Cirrh... ORPHA:363400
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Gait... ORPHA:399
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... ORPHA:263455
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypercholesterolemia, Hy... OMIM:612526
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Hepa... ORPHA:79237
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Athetosis, Small for gestational age OMIM:618857
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:79085
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, H... OMIM:619048
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Gait disturbance, Hepatic steatosis OMIM:618400
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Decreased ser... OMIM:615238
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance, Insulin resistance ORPHA:2398
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Failure to thrive, Glycosuria, Elevated circulating ... ORPHA:2088
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity, Broad-based gait ORPHA:171829
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia OMIM:619175
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... OMIM:606069
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance, Hyperlipidemia OMIM:604484
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Failure to thrive, Graves di... ORPHA:525731
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive ORPHA:26792
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Mpi-Cdg
Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertension, Hypothyroidis... ORPHA:79319
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... ORPHA:528
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Cyanosis, Eleva... OMIM:261680
Joubert Syndrome 10
Obesity, Frequent temper tantrums, Dysmetria, Decreased body weight, Polyphagia OMIM:300804
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Polyphagia, Neonatal hy... OMIM:606407
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis... ORPHA:435651
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Obesity, Hypogonadism, Polyphagia, Skin-picking,... OMIM:615547
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Hepatic steatosis,... OMIM:616829
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hyperlipidemia, Hepatic steatosis, Abdominal obesity, Diabetes mellitus OMIM:615980
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... OMIM:278000
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Car... ORPHA:465508
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ... ORPHA:228402
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Decreased serum leptin, Hyperinsulinemia... OMIM:608594
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid... OMIM:264470
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circula... OMIM:618805
Beta-Ketothiolase Deficiency
Hypoglycemia, Anorexia, Hyperglycemia, Oral aversion, Weight loss, Ataxia, Hepatomegaly, Agitation ORPHA:134
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemic hypoglycemia, H... OMIM:602579
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated circulating hepatic transaminase concentration, Difficulty walking, Hepatic steatosis, H... ORPHA:369840
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Overfriendliness OMIM:620439
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:616033
Sandhoff Disease
Failure to thrive, Splenomegaly, Abnormal glycosphingolipid metabolism, Ataxia, Hepatomegaly ORPHA:796
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:435660
Perlman Syndrome
Hepatomegaly, Hyperinsulinemia, Abnormal pancreas morphology ORPHA:2849
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Weigh... ORPHA:95427
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... OMIM:151660
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Decreased serum leptin, Hyperinsulinemia... OMIM:269700
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... ORPHA:42
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Hepatic steatosis OMIM:608709
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Carnitine Deficiency, Systemic Primary
Failure to thrive, Recurrent hypoglycemia, Elevated circulating aspartate aminotransferase concen... OMIM:212140
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Wolman Disease
Failure to thrive, Acute hepatic failure, Adrenal calcification, Splenomegaly, Hepatomegaly OMIM:620151
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Decreased liver function, Inability to walk, Hepatic steatosis, Ataxia, Dysphagia ORPHA:70472
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... ORPHA:417
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Precocious puberty in females, Inability to walk, Dela... ORPHA:72
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Cardiomegaly, ... OMIM:600649
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Truncal obe... OMIM:615812
Man1B1-Cdg
Polyphagia, Broad-based gait, Truncal obesity ORPHA:397941
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... OMIM:619868
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decreased body mass in... ORPHA:247585
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperactivity, Ataxia OMIM:615924
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... ORPHA:398079
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Cir... ORPHA:79086
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Absent gallbladder,... OMIM:615710
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Hypercholesterolemia... ORPHA:209902
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec... OMIM:203800
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, ... OMIM:256810
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Increased intramyocellular lipid droplets, Adrenocortical adenoma ORPHA:681
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... OMIM:618549
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Class III obesity, Failure to thrive in infancy, Dec... OMIM:176270
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly, Anorexia ORPHA:86893
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Splenomegaly, Hepatic steatosis, Cirrhos... ORPHA:79083
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Hypogly... OMIM:231530
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Abnormal temper tantrums, Small pituitary gland, Central hypothyroidism, Fail... ORPHA:398069
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hepatic steatosis OMIM:615996
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hypercholest... OMIM:306000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepatosplenomegaly, Hep... OMIM:619013
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Dysbetalipoproteinemia
Obesity, Xanthelasma, Hepatic steatosis, Hypothyroidism, Hypercholesterolemia, Hypertriglyceridem... ORPHA:412
Necrotizing Enterocolitis
Ascites, Hyperglycemia, Abnormal glucose homeostasis, Cyanosis, Peritonitis, Small for gestationa... ORPHA:391673
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Premature adrenarche, Elevated circulating hepatic transaminase concentr... ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Familial Chylomicronemia Syndrome
Failure to thrive, Hepatosplenomegaly, Hyperlipidemia, Hepatic steatosis, Decreased body weight, ... ORPHA:444490
Cebalid Syndrome
Polyphagia OMIM:618774
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Failure to thrive, Pr... ORPHA:300536
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypogly... OMIM:201450
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl... OMIM:608612
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Ascites, Hepatomegaly, Weight loss, Dysphagia ORPHA:2198
Macrocephaly-Intellectual Disability-Autism Syndrome
Attention deficit hyperactivity disorder, Thyroid carcinoma, Hurthle cell thyroid adenoma, Hepati... ORPHA:210548
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Left ventricular hypertrophy, Hypothyroidism, Addictive alcohol u... ORPHA:90065
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatome... ORPHA:2348
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Failure to thrive, Hypoglycemia, Tip-toe gait, Anorexia, Hyperglycemia,... ORPHA:3008
Congenital Macroglossia
Abnormal hepatic glycogen storage, Hypothyroidism ORPHA:2430
Combined Oxidative Phosphorylation Deficiency 47
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Hepatom... OMIM:618958
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... OMIM:617253
Greig Cephalopolysyndactyly Syndrome
Hyperglycemia OMIM:175700
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Limb ataxia, Gait ataxia, Splenomeg... OMIM:616719
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis... OMIM:610717
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes... OMIM:248370
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior OMIM:616831
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Ascites, Increased body weight, Hepatome... ORPHA:890
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly, Failure to thrive OMIM:230350
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp... OMIM:614921
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Cardiomegaly, Nonketotic hypogly... OMIM:201475
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circulating aspartate... OMIM:615486
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio... ORPHA:440713
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmet... OMIM:616263
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver function, Hypoglyc... OMIM:617093
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:610198
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia, Obesity, Delayed puberty, Enlarged kidney ORPHA:251004
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Smal... OMIM:269880
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:124000
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Polydipsia, Insulin-resistant... ORPHA:769
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Galactose Mutarotase Deficiency
Cholestasis, Hepatomegaly, Failure to thrive, Decreased liver function ORPHA:570422
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Hypoglycemia, Exocri... OMIM:619418
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Failure to thrive, Glycosuri... ORPHA:99885
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Decreased liver function, Hyperglycemia, Cyanosis, Impulsivity, Hyperactivity, Agit... OMIM:620423
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemi... ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Microvesicular ... OMIM:615595
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... ORPHA:71
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ... ORPHA:79239
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive ORPHA:977
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Failure to thrive, Glycosuria, Elevated cir... OMIM:227810
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cachexia,... ORPHA:298
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... ORPHA:2394
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Hepatom... OMIM:212138
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Diabetes mellitus, Pancrea... OMIM:609069
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... OMIM:613812
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... ORPHA:79322
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Type II diabetes mel... OMIM:616860
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypogonadism, Splenome... OMIM:613313
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Broad-based gait, Elevated circulating hepatic transaminase concentrat... ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Rett Syndrome
Failure to thrive, Difficulty walking, Inability to walk, Bruxism, Increased serum leptin, Cholec... ORPHA:778
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Wolman Disease
Hepatic failure, Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, H... ORPHA:75233
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Hypothyr... ORPHA:254346
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Failure to thrive, Decreased liver function, Gait disturbance, Ataxia, Hepatomegaly, ... ORPHA:436271
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Self-mutilation, Polyphagia, Aggressive behavior, Restlessness ORPHA:251028
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Pyruvate Carboxylase Deficiency
Hepatomegaly, Athetosis, Hypoglycemia OMIM:266150
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis... ORPHA:98908
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Asc... OMIM:619487
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple... OMIM:613489
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Difficulty walki... ORPHA:98907
Classic Hodgkin Lymphoma
Ataxia, Splenomegaly, Weight loss, Anorexia, Hepatomegaly ORPHA:391
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Elevated circulating aspartate amin... OMIM:605814
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice OMIM:231680
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, Chronic hepati... ORPHA:746
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Dysmetria, Aggressive behavior, Polyphagia, Hyperactivity, Coll... ORPHA:96121
Cole Disease
Hyperglycemia OMIM:615522
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Splenomegaly, Hepatic steatosis, Pancreatitis, H... ORPHA:280365
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Elevated circulating alanine ... OMIM:614300
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hypothyroidism, Neona... ORPHA:445038
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ... ORPHA:2137
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Splenomegaly, Pancreatitis, Anorexia, Hepatomegaly, Choreoathetosis ORPHA:79312
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Aromatase Deficiency
Insulin resistance, Obesity, Type II diabetes mellitus, Eunuchoid habitus, Hepatic steatosis, Hyp... ORPHA:91
Atypical Werner Syndrome
Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Glycosuria, Hyp... ORPHA:79474
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Ascites, Glucose intolerance, Splenomega... OMIM:235200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Transient... ORPHA:156
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Anorexia, Lipid ... ORPHA:20
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Increased circu... ORPHA:97287
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:5
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyp... OMIM:212065
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Microvesi... OMIM:611126
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Microvesicular hepatic steatosis, Repeti... ORPHA:66634
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat... OMIM:615630
Abetalipoproteinemia
Hepatic fibrosis, Broad-based gait, Elevated circulating hepatic transaminase concentration, Fail... ORPHA:14
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Small for gestation... ORPHA:30391
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Failure to thrive, Decreased liver function, Increased intramyocellular lipid droplet... OMIM:220110
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Failure to thrive, Hypoglycemia, Xanthelasma, Hyperlipidemia, Hepatic stea... ORPHA:79259
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97283
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Bruxism, Obesity, Polyp... OMIM:615873
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
1P36 Deletion Syndrome
Self-injurious behavior, Annular pancreas, Failure to thrive, Hypogonadism, Abnormality of the sp... ORPHA:1606
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia, Dysmetria, Microvesicular hepatic steatosis, Left... OMIM:220111
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated circulating aspar... OMIM:608836
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Ataxia, Hepatomegaly, Very long chain fatty acid accumula... OMIM:266510
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa... OMIM:601847
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Glycosuria, Steatorrhea... ORPHA:699
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Polyphagia, Attention deficit hyperactivity ... ORPHA:404448
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Steat... OMIM:612714
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Waddling gait ORPHA:52430
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... ORPHA:100080
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... OMIM:617156
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Type I diabetes mellitus, Failure to thrive, Ataxia OMIM:560000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Large for gest... OMIM:616026
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringi... ORPHA:163681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Difficulty walking, Inability to walk, H... OMIM:615356
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin... ORPHA:100085
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Abnormal abdomen morphology, Incr... ORPHA:97278
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:618329
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Cimdag Syndrome
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Ataxia, Hepatomegaly OMIM:619273
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Hypoketotic hypoglycemia, Hyperlipidemia, Hepatic steatosis, Cardiomegaly, Hepat... ORPHA:228308
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Hepatic... ORPHA:17
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:613404
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Increased intramyocellular lipi... ORPHA:79102
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:275761
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis, Choreoathetosis, Ataxia OMIM:616271
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Failure to thrive, Exocrine pancreatic insufficiency, Dysmetria, Hyperechogenic pancreas, Abnorma... ORPHA:456312
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... OMIM:211600
Monosomy 13Q34
Insulin resistance, Obesity, Hepatic steatosis ORPHA:96168
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... OMIM:620454
Weaver Syndrome
Polyphagia OMIM:277590
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Dend Syndrome
Hyperglycemia ORPHA:79134
D-Bifunctional Protein Deficiency
Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Choles... OMIM:261515
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Hyperinsulinemia, Elevated circulating thyroid-stimulat... OMIM:620185
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic transaminase concentra... ORPHA:1667
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Abnormality of exocrine panc... ORPHA:93111
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hypogonadism, Hepatosplenomegaly, Abnormality of the li... ORPHA:231222
Steinert Myotonic Dystrophy
Insulin resistance, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Fall... ORPHA:273
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Hepatic steatosis, Failure to thrive OMIM:236200
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function OMIM:614922
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Atypical pulm... ORPHA:100082
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... OMIM:614924
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97261
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Failure to thrive, Glycosuria, Hyperglycemia, Absent gallbladder, Biliary ... OMIM:600001
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Fructose Intolerance, Hereditary
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Glycosu... OMIM:229600
Alström Syndrome
Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me... ORPHA:64
Scorpion Envenomation
Glycosuria, Elevated circulating aspartate aminotransferase concentration, Hyperglycemia, Ataxia,... ORPHA:466677
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Failure to thrive, Cyanosis, Cardiomegaly, Maternal diabetes, Hepatome... ORPHA:860
Glucagonoma
Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Incr... ORPHA:97280
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased serum testosterone concentration, Splenomegaly, Ataxia... OMIM:201100
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hy... ORPHA:110
Glutaric Acidemia I
Hepatomegaly, Choreoathetosis, Failure to thrive, Hypoglycemia OMIM:231670
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... ORPHA:404454
Poems Syndrome
Visceromegaly, Increased circulating prolactin concentration, Ascites, Hypogonadism, Primary adre... ORPHA:2905
Wilson Disease
Hepatic failure, Portal fibrosis, Glycosuria, Acute hepatic failure, Ascites, Elevated circulatin... OMIM:277900
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232200
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... ORPHA:100075
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Broad-based gait, Fixated interests, Hair-pulling, Polyphagia, Attention... OMIM:620330
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat... ORPHA:99226
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Small for gestational age, Failure to th... OMIM:613658
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb ataxia, Gait ataxia, Increased hepatic glycogen content, Cardiomegaly, Gait disturbance, Ata... OMIM:619259
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Hepatic steatosis, Decreased body weight, Ataxia, Jaundice, Tics, Motor stereot... OMIM:619475
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly ORPHA:33402
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Failure to thrive in infanc... ORPHA:247598
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Niemann-Pick Disease, Type C1
Fetal ascites, Gait ataxia, Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaun... OMIM:257220
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Splenomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Enlarged kidney OMIM:617303
Transketolase Deficiency
Self-injurious behavior, Type I diabetes mellitus, Attention deficit hyperactivity disorder, Hepa... ORPHA:488618
Liver Disease, Severe Congenital
Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In... OMIM:619991
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Hyperparathyroidism, Neonatal Severe
Polydipsia, Failure to thrive, Elevated circulating parathyroid hormone level, Splenomegaly, Hepa... OMIM:239200
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa... OMIM:619525
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity, Ataxia OMIM:612291
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity, Hypothyroidism ORPHA:444077
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... OMIM:610199
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Ascites, Elevated circulating aspartate aminotransferase concentrat... OMIM:619573
Bloom Syndrome
Small for gestational age, Type II diabetes mellitus, Hepatic steatosis OMIM:210900
Arima Syndrome
Hepatic fibrosis, Polydipsia, Hepatic steatosis, Cirrhosis, Ataxia, Hepatomegaly OMIM:243910
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Xanthelasma, Hyperlipidemi... OMIM:232220
Chromosome 1P36 Deletion Syndrome, Distal
Obesity, Congenital hypothyroidism, Oppositional defiant disorder, Self-mutilation, Aggressive be... OMIM:607872
Argininemia
Spastic gait, Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperactivity, Anorexia, Hepa... OMIM:207800
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carcinoma ORPHA:60
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Hyperlipidemia, Splenom... ORPHA:77293
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... OMIM:557000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Difficulty walki... ORPHA:309854
Aicardi-Goutieres Syndrome 7
Hepatitis, Splenomegaly, Hepatic steatosis, Weight loss, Hypothyroidism, Hepatomegaly OMIM:615846
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Steatorrhea, Ascites, Xanthelasm... ORPHA:186
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... OMIM:276700
Tafro Syndrome
Ascites, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Elevated vascular endothelial growth fac... ORPHA:457077
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis,... OMIM:618278
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:207750
Hyperlipoproteinemia, Type Id
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hypertriglyceridemia, Hepa... OMIM:615947
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Precocious puberty, Failure to thrive, Hypocholesterolemia, Hepatic st... OMIM:270400
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Right ventricular hypertrophy, Cyanosis, Cardiomegaly, Hepatomegaly, H... ORPHA:555874
Glycogen Storage Disease Ic
Hypoglycemia, Xanthelasma, Chronic pancreatitis, Hyperlipidemia, Hepatoblastoma, Delayed puberty,... OMIM:232240
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Left ventricular hy... OMIM:619127
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Fetal ascites, Broad-based gait, Falls, Failure to thrive, Tip-toe gait, C... OMIM:619503
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Primary hyper... ORPHA:100079
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron con... OMIM:300868
Intellectual Developmental Disorder, Autosomal Dominant 68
Attention deficit hyperactivity disorder, Hepatic steatosis OMIM:619934
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Increased circulating prolactin concentration, Decreased response to growth ho... ORPHA:3455
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Obesity, Splenomegaly, Hepatic steatosis, Parathyroid age... OMIM:188400
Ogden Syndrome
Microvesicular hepatic steatosis, Cardiomegaly, Maternal diabetes, Dysphagia, Jaundice, Macrovesi... OMIM:300855
Cystic Fibrosis
Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirr... OMIM:219700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Hepatic steatosis, Abdominal obesity OMIM:619321
Pmm2-Cdg
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Fa... ORPHA:79318
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Decreased serum leptin OMIM:614008
Keppen-Lubinsky Syndrome
Failure to thrive, Decreased serum leptin OMIM:614098
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Shuffling gait, Delayed menarche, Cyanosis, Severe failure to thrive, Weight ... ORPHA:740
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, 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 Npbwr1

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 Npbwr1.

No publications found that use IMPC mice or data for Npbwr1.

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
Npbwr1em2(IMPC)Mbp Indel Mice, Tissue

The IMPC Newsletter

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

Subscribe to newsletter