Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
neuropeptide Y receptor Y6
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Npy6r 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 Npy6r by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71526
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hyperinsulinemia, Hepatomegaly, Hyper... ORPHA:363400
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of th... ORPHA:324575
Spinocerebellar Ataxia Type 23
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Impaired distal vibration se... ORPHA:101108
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, M... OMIM:604367
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Hypercholesterolemia, Reduced subc... OMIM:612526
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Agitation,... ORPHA:276580
Lipodystrophy, Partial, Acquired, Susceptibility To
Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipose tissue, Loss of s... OMIM:608709
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Agitation, Diffuse pancreatic... ORPHA:276575
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, H... ORPHA:528
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Insulin resistance, Lipodystrophy, Abdominal obesity, Diabetes mellitus, Hepatic ... OMIM:615980
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-... OMIM:613877
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Agitation, Hepatomegaly, Diffuse pancreatic isl... ORPHA:276556
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis, Polyphagia OMIM:620195
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Elevated circulating hepatic transamin... OMIM:613327
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Diarrhea, Vomiting, Failure to thrive, Hypoglycemia OMIM:606528
Chorea, Benign Familial
Chorea OMIM:215450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weigh... ORPHA:276608
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Increased intramuscular fat, Hyperinsulinemia, Loss of truncal subcutaneous... OMIM:151660
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin ... OMIM:615238
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Primary hypothy... ORPHA:300536
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo... ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,... OMIM:615381
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L... ORPHA:2457
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Attention deficit hyperactivity disorder, Multiple lipomas, Hepatic steatosis,... ORPHA:210548
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Elevated circulating hepatic transaminase conc... OMIM:608594
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia ORPHA:2849
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia OMIM:618406
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper... ORPHA:97279
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Elevated circulati... ORPHA:263455
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu... ORPHA:2348
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Generalized lipodystrophy, Panniculitis, Hepat... ORPHA:79086
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hepatic steatosis, Hyperinsulinemia, Elevated circulating hepatic transamin... OMIM:269700
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Loss... ORPHA:79083
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Hypercholesterolemia, Obesity, Type II diabetes mellitus, Insulin resistanc... OMIM:615703
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Hyperinsulinemia, Loss of trunca... OMIM:608612
Schaaf-Yang Syndrome
Gastroesophageal reflux, Polyphagia, Camptodactyly, Impulsivity, Constipation, Obesity, Skin-pick... OMIM:615547
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept... OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells, Hypo... OMIM:606762
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T... ORPHA:254516
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Abnorm... OMIM:275000
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:35878
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Leptin Deficiency Or Dysfunction
Obesity, Decreased serum leptin, Polyphagia, Hypogonadism OMIM:614962
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Glucose intolerance, Hy... ORPHA:552
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Hypercholesterolemia, Increased adipose tissue around the neck, L... OMIM:248370
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Secretory d... OMIM:620357
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Increased serum serotonin, Small for gestational age ORPHA:85288
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Vomi... OMIM:614480
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Pancreatitis, Loss of subcuta... ORPHA:280365
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Failure to thrive, Hepatosplenome... ORPHA:79237
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Postprandial hyperglycemia, Fasting hypoglycemia, Precocious puberty, Hyperglyc... OMIM:262190
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia OMIM:222100
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Diarrhea, Portal hypertensio... ORPHA:79319
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Proprotein Convertase 1/3 Deficiency
Diarrhea, Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circ... OMIM:600955
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Left ventricular hyper... OMIM:619048
14Q11.2 Microduplication Syndrome
Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increased circulating... ORPHA:556037
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increased circulating... ORPHA:556030
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Ketotic hypoglycemia, Hepatic steatosis ORPHA:26792
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619386
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Pediatric-Onset Graves Disease
Polydipsia, Increased circulating T4 concentration, Increased circulating free T3, Jaundice, Elev... ORPHA:525731
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Coffin-Siris Syndrome 8
Inguinal hernia, Hyperactivity, Failure to thrive, Self-injurious behavior, Aggressive behavior OMIM:618362
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... ORPHA:101330
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Very long chain... OMIM:264470
Huntington Disease
Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia... ORPHA:399
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Gastroesophageal reflux, Hyp... ORPHA:398069
Insulin-Resistance Syndrome Type B
Increased body weight, Biliary cirrhosis, Fasting hyperinsulinemia, Postprandial hyperglycemia, H... ORPHA:2298
Solitary Fibrous Tumor
Pelvic mass, Abnormal peritoneum morphology, Hypoinsulinemia, Constipation, Weight loss, Recurren... ORPHA:2126
Rabson-Mendenhall Syndrome
Polydipsia, Increased circulating androgen concentration, Increased serum testosterone level, Fas... ORPHA:769
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Polyphagia, Hypergo... OMIM:606407
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Increased circulating renin level, Failure to thrive,... OMIM:610600
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Cirrhosis, Hepatomegaly, Diarrhea, Vomiting, Failure to thrive, Hyperinsulinemic hyp... OMIM:602579
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased body mass index, Elevated circulating hepatic transaminase concen... ORPHA:247585
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Gastroparesis, Decreased circulating gonadotropin concentration, Decreased circu... ORPHA:98793
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Diarrhea, Microvesicular hepatic steatosis, Reduced muscle carnitine level, Decreas... OMIM:212140
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Gastroparesis, Decreased circulating gonadotropin concentration, Decreased circu... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Gastroparesis, Decreased circulating gonadotropin concentration, Decreased circu... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Gastroparesis, Decreased circulating gonadotropin concentration, Decreased circu... ORPHA:177901
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Increa... OMIM:278000
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma... ORPHA:90793
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cholestasis, Ascites, Prolonged neonatal jaundice, Acute hepatic failure, Recurrent hypoglycemia,... OMIM:256810
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Gastroesophageal reflux, Failure to thrive, Dysphagia, Hepatic steatosis ORPHA:70472
19P13.12 Microdeletion Syndrome
Hyperactivity, Hyperlipidemia, Hypothyroidism, Precocious puberty, Obesity, Self-injurious behavi... ORPHA:254346
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Inc... ORPHA:508
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Secondary Short Bowel Syndrome
Steatorrhea, Primary hypothyroidism, Diarrhea, Cholestasis, Polyphagia, Central hypothyroidism, F... ORPHA:95427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... ORPHA:264580
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:618400
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Obesity, Polyphagia ORPHA:171829
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Polyphagia, Central hypothyr... ORPHA:398079
Somatostatinoma
Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Neoplasm of the pancreas, Ascit... ORPHA:97283
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Constipation, Motor stereotypy, Self-injurious behavior, Paroxysmal bu... ORPHA:228402
Prader-Willi Syndrome
Self-injurious behavior, Delayed puberty, Decreased response to growth hormone stimulation test, ... OMIM:176270
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal circulating pregnenolone concentration, Decreased circulating dehydroep... ORPHA:95699
Intellectual Developmental Disorder, Autosomal Dominant 72
Attention deficit hyperactivity disorder, Obesity, Polyphagia, Overfriendliness OMIM:620439
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Nausea, Repetitive compulsive behavi... ORPHA:33543
Joubert Syndrome 10
Obesity, Decreased body weight, Polyphagia, Frequent temper tantrums OMIM:300804
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Decreased body weight, Polyphagia OMIM:620085
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Vipoma
Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid adenoma, Subcutaneous lipoma, N... ORPHA:97282
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diarrhea, Camptodactyly, F... ORPHA:79322
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hypogonadism OMIM:619273
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp... OMIM:615830
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Failure to thriv... OMIM:616263
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Atypical Werner Syndrome
Lipoatrophy, Delayed puberty, Neoplasm of the thyroid gland, Generalized lipodystrophy, Hyperinsu... ORPHA:79474
Angelman Syndrome
Precocious puberty in females, Tongue thrusting, Gastroesophageal reflux, Hyperactivity, Recurren... ORPHA:72
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Reduced subcutaneous adipose tissue, Failure to thrive... OMIM:609069
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Abnormal dental enamel morphology, Polyphagia, Obesity ORPHA:251004
Ppoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Ascites, Pituitary... ORPHA:97278
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis, Hypogonadism OMIM:615996
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated circulating hepatic t... OMIM:616829
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased b... ORPHA:1501
Glucagonoma
Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Neoplasm of the pancreas, Ascit... ORPHA:97280
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Chronic diarrhea, Elevated circulating alanine aminotransferase conce... OMIM:618805
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Pigmented Nodular Adrenocortical Disease, Primary, 2
Agitation, Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenoc... OMIM:610475
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diarrhea, Inc... OMIM:605911
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, El... OMIM:203800
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Hepatic steatosis OMIM:615119
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Zollinger-Ellison Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Lipoma, Pituitary growth hormone cell adenom... ORPHA:913
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesi... OMIM:608836
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, V... ORPHA:17
Grfoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ... ORPHA:97261
Pigmented Nodular Adrenocortical Disease, Primary, 1
Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente... OMIM:610489
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Recurrent aphthous stomatitis, Gastroesophageal reflux OMIM:616260
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Precocious puberty, Motor stereotypy, Hypogonadism, Hernia, Self-biting, Aggressiv... ORPHA:3306
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ste... ORPHA:404454
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Abnormal circulating corticosterone le... ORPHA:90796
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Polyphagia, Pituitary adenoma, ... OMIM:300942
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hepatomegaly, Diarrhea, Vomiting, Hyperglycemia, Weight loss, Hypoglycemia, ... ORPHA:134
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Episodic vomiting, Gastroesophageal reflux, Periportal fibrosis, Necrotizing entero... OMIM:201475
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, Joint contra... OMIM:175700
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Testicular atrophy, P... ORPHA:465508
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Pancreatitis, Hepatic steatosis, Inguinal hernia OMIM:236200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ... OMIM:619418
Adnp Syndrome
Abnormal temper tantrums, Inguinal hernia, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Co... ORPHA:404448
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Vomiting, Failure to thrive, Obesi... ORPHA:412035
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Ascite... OMIM:619487
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Aggressiv... ORPHA:363528
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Gastrointestinal inflammation, Cholestatic liver disease, Hyperinsulinemia, Cirr... ORPHA:99413
Turner Syndrome
Delayed puberty, Gastrointestinal inflammation, Cholestatic liver disease, Hyperinsulinemia, Cirr... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Gastrointestinal inflammation, Cholestatic liver disease, Hyperinsulinemia, Cirr... ORPHA:99228
Monosomy X
Delayed puberty, Gastrointestinal inflammation, Cholestatic liver disease, Hyperinsulinemia, Cirr... ORPHA:99226
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Diarrhea, Splenomegaly, Dysphagia, Hernia OMIM:252930
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Decreased adipose tissue around neck, Diarrhea, Loss of subcutaneous adipos... OMIM:606721
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Delayed puberty, Decreased response to growth hormone stimulation test, Central diabe... ORPHA:293987
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Impulsivity, Frequent temper tantrums, Motor stereotypy, Attentio... OMIM:620141
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating renin level, Left ventricular hypertrophy, Failure to thrive, D... ORPHA:320
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Hepatomegaly, Hypercholesterolemia, Acute pancreatitis, Hypoth... ORPHA:412
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Vomiting, Hypoglycemia, He... OMIM:201450
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He... OMIM:619013
Seckel Syndrome 10
Hypertriglyceridemia, Glucose intolerance, Acute pancreatitis, Impaired glucose tolerance, Elevat... OMIM:617253
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Hyperactivity, Polyphagia, Obesity, Collectioni... ORPHA:96121
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Jaundice, Decreased body weight, Acute pancreatitis, Hyperlipidemia, Failur... ORPHA:444490
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat... OMIM:617093
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Episod... ORPHA:20
Wilson Disease
Cirrhosis, Jaundice, Hypoparathyroidism, Portal fibrosis, Hepatomegaly, Hepatocellular carcinoma,... OMIM:277900
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Hyperactivity, Diarrhea, Splenomegaly, Umbilical hernia OMIM:252900
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, I... OMIM:619525
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:369840
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminot... OMIM:227810
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Cushing Disease
Increased body weight, Increased urinary cortisol level, Impaired glucose tolerance, Adrenal hype... ORPHA:96253
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618857
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Esophagitis, Hepatosplenome... ORPHA:541423
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Diarrhea, Sp... OMIM:261750
Pearson Syndrome
Decreased response to growth hormone stimulation test, Steatorrhea, Hypoparathyroidism, Elevated ... ORPHA:699
Atelis Syndrome 2
Attention deficit hyperactivity disorder, Hyperinsulinemia, Gastroesophageal reflux, Elevated cir... OMIM:620185
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Hypertriglyceridemia, Hype... ORPHA:79259
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Vomiting, Failure to thrive, Hypoglycemia, Acute hepatic steatosis OMIM:210200
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Inguinal hernia, Cholestasis, Portal hypertension, Flexio... ORPHA:440713
Intellectual Developmental Disorder, Autosomal Dominant 1
Gastroesophageal reflux, Recurrent hand flapping, Polyphagia, Constipation, Inappropriate laughte... OMIM:156200
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis, Flexion contracture OMIM:616271
Luscan-Lumish Syndrome
Obesity, Polyphagia, Aggressive behavior OMIM:616831
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Diarrhea, Vomiting, Insulin resistance, Hypoglycemia ORPHA:230
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... OMIM:614582
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Failure... ORPHA:71
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Vomiting, Glycosuria, Nausea, Hypoglycemia, ... OMIM:231680
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:606176
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Diarrhea, Bloody diarrhea, Ascites, Vomiting, Hyperglycemia, Perito... ORPHA:391673
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia, Failure to thri... ORPHA:99901
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Ascites, Biliary hyperplasia, Splenomega... OMIM:619991
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Gastroesophageal reflux, Microvesicular hepatic s... OMIM:615595
Weaver Syndrome
Inguinal hernia, Polyphagia, Camptodactyly, Umbilical hernia, Joint contracture of the hand OMIM:277590
Multiple Endocrine Neoplasia, Type I
Glucagonoma, Increased circulating prolactin concentration, Adrenocortical adenoma, Pancreatic is... OMIM:131100
Monosomy 13Q34
Insulin resistance, Obesity, Hematochezia, Hepatic steatosis ORPHA:96168
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:212138
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... ORPHA:251937
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Obesity, Aggressive behavior OMIM:612469
Steinert Myotonic Dystrophy
Obsessive-compulsive trait, Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, H... ORPHA:273
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Pancreatic hypoplasia, Failure to thrive, Glycosuria, Reduced pancr... ORPHA:99885
1P36 Deletion Syndrome
Annular pancreas, Gastroesophageal reflux, Polyphagia, Hypothyroidism, Camptodactyly of finger, F... ORPHA:1606
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Generalized lipodystrophy, Elevated circulating hepatic transaminase concen... OMIM:619127
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Enlarged kidney, Episodic vomiting, Gastro... OMIM:615873
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Vomiting, Glycosuria, Failure to thrive, Diffuse hepatic ... ORPHA:436271
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero... OMIM:300972
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Chronic hepatic failure, Left ventricu... ORPHA:746
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Microvesicular he... ORPHA:66634
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Nausea, Vomiting, Addictive alcohol use, Hyperglycemia, Left ventricular hypertro... ORPHA:90065
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Slender build, Motor stereotypy, A... OMIM:617600
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transamina... ORPHA:93111
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Gastroesophageal reflux, Hyperactivity, Recurrent hand flapping, Hypoth... ORPHA:449291
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transamina... ORPHA:445038
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Vomiting, Failure to thrive, Hyperglycem... OMIM:615453
Aromatase Deficiency
Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Eunuchoid habitus, O... ORPHA:91
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferas... OMIM:610198
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C... ORPHA:2137
Multiple Endocrine Neoplasia Type 1
Hematemesis, Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary gr... ORPHA:652
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Hyperglycemia OMIM:604484
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Failur... OMIM:614300
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circu... OMIM:603471
Lysosomal Acid Lipase Deficiency
Decreased liver function, Xanthelasma, Steatorrhea, Hypertriglyceridemia, Elevated circulating he... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Elevated circulating growth hormone concentration, Decrease... OMIM:608747
X-Linked Cerebral Adrenoleukodystrophy
Hyperactivity, Hamstring contractures, Primary adrenal insufficiency, Decreased circulating corti... ORPHA:139396
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Diarrhea, Pancreatic hypoplasia, Cholestasis, Ascites, Hypergl... OMIM:615710
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro... OMIM:261515
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... ORPHA:98908
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Microvesicular hepatic steatosis, Vomiting, Failure to thrive, Increased hepatoc... OMIM:220111
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Abetalipoproteinemia
Steatorrhea, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ch... ORPHA:14
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Hepatomegaly, Recurrent hand flapping, Compulsive behaviors, ... ORPHA:3008
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Self-mutilation, Polyphagia, Restlessness, Aggressive behavior ORPHA:251028
Ogden Syndrome
Enlarged kidney, Jaundice, Maternal diabetes, Macrovesicular hepatic steatosis, Inguinal hernia, ... OMIM:300855
Digeorge Syndrome
Inguinal hernia, Gastroesophageal reflux, Cholelithiasis, Hypoplasia of the thymus, Femoral herni... OMIM:188400
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Intellectual Developmental Disorder, Autosomal Dominant 68
Gastroesophageal reflux, Joint contracture of the 5th finger, Constipation, Attention deficit hyp... OMIM:619934
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperactivity, Impulsiv... OMIM:619475
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality OMIM:607485
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... OMIM:611126
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Elevated circulating thyroid-stimulating hormone c... ORPHA:79318
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Agitation, Hyperactivity, Impulsivity, Hyperglycemia, Hypoglycemia, Cya... OMIM:620423
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly, Flexion contracture OMIM:617303
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Increas... ORPHA:3455
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Cardiomegaly, Hepatic calcification, Hepa... ORPHA:228308
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Polyphagia, Fixated interests, Constipation, Motor stereotypy, Umbilic... OMIM:620330
Osteootohepatoenteric Syndrome
Portal fibrosis, Episodic vomiting, Microvesicular hepatic steatosis, Cholestasis, Failure to thr... OMIM:619377
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Thyroid hypoplasia, Cholestasis, Impulsivity, Dysphagia, Bruxism, Hepatic ... OMIM:619503
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Bloom Syndrome
Type II diabetes mellitus, Hepatic steatosis, Small for gestational age OMIM:210900
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C... OMIM:229600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Increased intramyocellular... OMIM:220110
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Pancreatic hypoplasia, Aplasia... OMIM:600001
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Hepatic steatosis ORPHA:209919
Aicardi-Goutieres Syndrome 7
Hematemesis, Hepatomegaly, Diarrhea, Bloody diarrhea, Hepatitis, Hypothyroidism, Hematochezia, Sp... OMIM:615846
Immunodeficiency 40
Intermittent diarrhea, Hepatomegaly, Macrovesicular hepatic steatosis, Focal active colitis, Chro... OMIM:616433
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Diarrhea, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight l... ORPHA:424
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia, Increased intramyocellular lipid droplets ORPHA:681
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Gastroesophageal reflux, Hyperactivity, Preco... OMIM:270400
Chromosome 1P36 Deletion Syndrome, Distal
Gastroesophageal reflux, Polyphagia, Camptodactyly, Congenital hypothyroidism, Oppositional defia... OMIM:607872
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Port... OMIM:605814
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis OMIM:614922
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Necrotizing enterocolitis, Cholestasis, Ascites, El... OMIM:619573
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
African Trypanosomiasis
Abnormality of renin-angiotensin system, Jaundice, Hepatomegaly, Abnormality of the endocrine sys... ORPHA:3385
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transam... ORPHA:247598
Gracile Syndrome
Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis ORPHA:53693
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Hyperglycemia, Type II diabetes mellitus, Abdominal o... OMIM:615812
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi... OMIM:300868
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Diarrhea, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight l... ORPHA:99819
Legius Syndrome
Hyperactivity, Xanthelasma, Attention deficit hyperactivity disorder, Multiple lipomas ORPHA:137605
Bardet-Biedl Syndrome
Hypertriglyceridemia, Childhood-onset truncal obesity, Impaired fasting glucose, Elevated circula... ORPHA:110
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micr... ORPHA:98907
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Abdominal obesity, Hepatic steatosis, Flexion contracture OMIM:619321
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Hyperactivity, Pheochromocytoma, Impulsivity, Parathyroid hyperplasia... ORPHA:805
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Arima Syndrome
Polydipsia, Cirrhosis, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:243910
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophagitis, Achalasia, He... OMIM:615356
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Diarrhea, Microvesicular hepatic steatosis, Failure to thrive, Hepatocellular necro... OMIM:618278
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Cole Disease
Hyperglycemia OMIM:615522
Scorpion Envenomation
Diarrhea, Acute pancreatitis, Vomiting, Glycosuria, Hyperglycemia, Restlessness, Elevated circula... ORPHA:466677
Dend Syndrome
Vomiting, Hyperglycemia ORPHA:79134
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Hypothyroidism, C... ORPHA:444077
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Recurrent aphthous stomatitis, Peritonitis 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 Npy6r

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 Npy6r.

No publications found that use IMPC mice or data for Npy6r.

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
Npy6rtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Npy6rtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Npy6rtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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