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
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Paresthesia, Distal sensory impairment, Sensory ataxia OMIM:616491
Posterior Column Ataxia
Ataxia, Impaired proprioception, Impaired vibratory sensation OMIM:176250
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Central a... ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Childhood-onset truncal obesity, Hypertrigly... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Hepatic steatosis, Loss of gluteal subcutaneous adipo... ORPHA:280356
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Diabetes mell... ORPHA:79084
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutane... OMIM:604367
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, H... ORPHA:363400
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, G... OMIM:612526
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Ex... ORPHA:324575
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Precocious puberty in females, Insulin resistance, Hyperinsulin... ORPHA:528
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Diabetes mellitus, Abdomina... OMIM:615980
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly, Insulin resistance ORPHA:2398
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive, Diarrhea, Vomiting OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemi... OMIM:613327
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy ORPHA:79087
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Decreased adi... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Excessive insulin response to glucagon test, Re... ORPHA:276556
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Polyphagia, Glucose intolerance, Attention deficit hyperactivity disorder ORPHA:369873
Chorea, Benign Familial
Chorea OMIM:215450
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia, Adipose t... OMIM:246200
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Decreased adiponectin leve... OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Lo... ORPHA:435651
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Ddost-Cdg
Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Constipation, Gastroesophageal reflux, ... ORPHA:300536
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Diabetes... OMIM:615381
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Hyperinsulinemia ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Femoral hernia, Inguinal hernia ORPHA:2849
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Loss of facial adipose tissue, Hyperinsulinemia, Hyperlipidemia, Decreased a... OMIM:608612
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Splenomegaly, Lipoatrophy, Hepa... ORPHA:2348
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Cirrhosis, Hyperinsulinemia, Reduced intraa... OMIM:608594
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Hyperinsulinemia OMIM:618406
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Generalized lipodyst... ORPHA:79086
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Hypertriglyceridemia, Type ... OMIM:615703
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Hypoglycemic seizures, Gonadotropin deficiency, Cholestasis, Obesity, Adre... OMIM:609734
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Cirrhosis, Hyperinsulinemia, Reduced intraa... OMIM:269700
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Loss of subcutaneous adipose tissue in limbs, Lipoatrophy,... ORPHA:79083
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Primary adrenal insufficiency, Hypoglycemia, Hepatic failure, Hepatomegaly, Fa... OMIM:617872
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellitus, Hypertriglycer... OMIM:610717
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Precocious puberty, Type II diabetes ... ORPHA:254516
Leptin Deficiency Or Dysfunction
Obesity, Polyphagia, Decreased serum leptin, Abnormal eating behavior, Hypogonadism OMIM:614962
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Abdominal obesity, Increased urinary cortisol level, Dorsocerv... ORPHA:189439
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Abnormal response to corticotropin releasing hormone stimulati... ORPHA:189427
Obesity
Obesity, Decreased resting energy expenditure, Increased waist to hip ratio OMIM:601665
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased ... ORPHA:179494
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Constipation, Gastroesophageal reflux, Obesity... OMIM:615547
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Hepatomegaly, Failure to thrive, Cirrhosis, Hepatic fibrosis, Hyperinsulinemic h... OMIM:602579
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Insulin resistance, Increased facial ... ORPHA:280365
Mody
Exocrine pancreatic insufficiency, Glycosuria, Large for gestational age, Neonatal hypoglycemia, ... ORPHA:552
Leptin Receptor Deficiency
Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Decreased response to growth hormone st... OMIM:614963
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Hypoglycemia, Decreased liver function, Hepatomegaly, E... ORPHA:42
Mpi-Cdg
Hypothyroidism, Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Hepat... ORPHA:79319
Galactokinase Deficiency
Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Small for gestational a... ORPHA:79237
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... OMIM:619048
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:26792
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Attention deficit... ORPHA:35878
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus OMIM:222100
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Multiple joint contractures, Delayed puberty, Small for gestational age, Gastr... ORPHA:2959
Late-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Elevated serum 11-d... ORPHA:556037
Early-Onset Familial Hypoaldosteronism
Increased circulating renin level, Abnormal circulating corticosterone level, Elevated serum 11-d... ORPHA:556030
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Hepatomegaly, ... OMIM:212140
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Hemochromatosis, Type 4
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Cirrhosis, Glucose intolerance, Impaired gluc... OMIM:606069
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabete... ORPHA:436182
Short Syndrome
Lipodystrophy, Small for gestational age, Lipoatrophy, Insulin-resistant diabetes mellitus, Ingui... OMIM:269880
Graves Disease, Susceptibility To, 1
Goiter, Graves disease, Hyperactivity, Abnormal abdomen morphology, Polyphagia, Weight loss OMIM:275000
Macrosomia Adiposa Congenita
Polyphagia, Obesity, Large for gestational age, Adrenocortical adenoma OMIM:248100
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Hyperactivity, Small for gestational age ORPHA:85288
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Pelvic mass, Constipation, Recurrent hypoglycemia, Neoplasm of the liv... ORPHA:2126
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age, Hypogonadism OMIM:617119
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... OMIM:617156
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Failure to thrive, Polyphagia, Decreased r... OMIM:606407
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Failure to t... OMIM:256810
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Failure to thrive, Diab... OMIM:609069
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Esophagitis, Neuroendoc... ORPHA:276152
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Increased circulating 18-hydroxycortisone level, Decreased cir... OMIM:610600
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Congenital Disorder Of Glycosylation, Type Ia
Hypothyroidism, Hepatic steatosis, Flexion contracture, Hepatic fibrosis, Hepatomegaly, Abnormal ... OMIM:212065
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Diarrhea, Adrenal calcification, Periportal fibrosis, Increased h... OMIM:278000
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Diffuse hepatic steatosis, Elevated hepatic transaminase, Dysphagia OMIM:264470
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Hypoglycemia, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Polyphagia, Hyperglycemia OMIM:615986
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatic steatosis, Acute hepatic failure, Fasting h... ORPHA:71212
Citrullinemia Type Ii
Hepatic steatosis, Hyperlipidemia, Hepatic fibrosis, Hypercholesterolemia, Hyperactivity, Hepatom... ORPHA:247585
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Leprechaunism
Enlarged kidney, Fasting hypoglycemia, Decreased body weight, Insulin resistance, Hyperinsulinemi... ORPHA:508
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Male hypogonadism,... ORPHA:90793
Alstrom Syndrome
Hypothyroidism, Hepatic steatosis, Diabetes insipidus, Hyperinsulinemia, Hepatomegaly, Insulin-re... OMIM:203800
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Premature pubarche, Flexion contracture, Central hypothyroidism, Gastroeso... ORPHA:398069
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Flexion contracture, Hepatic fibrosis, Hepatomegaly, Failure t... OMIM:616263
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Nausea, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Cholestasis, Hypercholesterolemia,... ORPHA:264580
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Hepatic fibrosis, Cholestasis, Hypercholesterolemia, Spl... ORPHA:370
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransferase concentra... OMIM:619386
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Gastroesophageal reflux, Decreased liver function, Failure to thrive, Dysphagia ORPHA:70472
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Corneal scarring, Periportal fibrosis, Chronic hepatitis, Por... ORPHA:101330
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Obesity ORPHA:411515
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:98754
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:98793
Secondary Short Bowel Syndrome
Primary hypothyroidism, Weight loss, Central hypothyroidism, Cholestasis, Constipation, Vomiting,... ORPHA:95427
Mitochondrial Neurogastrointestinal Encephalomyopathy
Nausea, Hypogonadotropic hypogonadism, Macrovesicular hepatic steatosis, Weight loss, Gastroesoph... ORPHA:298
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism, Delayed puberty, Anter... ORPHA:177901
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Constipation, Elevated circulating luteinizing hormone level, Abnormal circulating pregnenolone c... ORPHA:95699
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Hypoketotic hypoglycemia, Elevated hep... OMIM:255120
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increase... OMIM:615830
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Hypogonadotropic hypogonadism, Premature pubarche, Central h... ORPHA:398073
Huntington Disease
Choking episodes, Oral-pharyngeal dysphagia, Decreased body mass index, Polyphagia, Weight loss ORPHA:399
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Knee flexion contracture, Failure to thrive,... ORPHA:79322
Prader-Willi Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Abdominal obesity, Decreased i... ORPHA:739
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Failure to thrive in infa... OMIM:176270
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypothyroidism, Hyperlipidemia, Hyperactivity, Obesity, Precocious puberty, Ar... ORPHA:254346
Atypical Werner Syndrome
Glycosuria, Hepatic steatosis, Decreased body weight, Hyperinsulinemia, Delayed puberty, Generali... ORPHA:79474
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism,... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity OMIM:616521
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Cimdag Syndrome
Lipodystrophy, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly, Hypogonadism OMIM:619273
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Hypercholesterolemia OMIM:616829
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Decreased liver function, Failure to thrive, Portal fibrosis, Ele... OMIM:614300
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Obesity, Abnormal dental enamel morphology, Polyphagia, Delayed puberty ORPHA:251004
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Somatostatinoma
Gastrointestinal hemorrhage, Constipation, Abnormality of the thyroid gland, Primary hyperparathy... ORPHA:97283
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Joint contracture of the hand, Hyperactivity, Joint contracture of the... ORPHA:352490
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid droplets, Failure ... OMIM:220111
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Weight loss, Adrenocortical carcinoma, Incre... ORPHA:1501
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Zollinger-Ellison Syndrome
Nausea, Pituitary corticotropic cell adenoma, Gastrointestinal hemorrhage, Adrenocortical carcino... ORPHA:913
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Chr... OMIM:614921
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Hepatic failure, Impaired glucon... OMIM:261680
Vipoma
Abnormality of the thyroid gland, Primary hyperparathyroidism, Increased circulating prolactin co... ORPHA:97282
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, En... ORPHA:785
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Cirrhosis, Cardiomegaly, Chol... ORPHA:465508
Adrenomyodystrophy
Pituitary corticotropic cell adenoma, Primary adrenal insufficiency, Hepatic steatosis, Constipat... OMIM:300270
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Mucopolysaccharidosis, Type Iiic
Hernia, Hyperactivity, Splenomegaly, Hepatomegaly, Dysphagia, Diarrhea OMIM:252930
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
2Q23.1 Microdeletion Syndrome
Constipation, Hyperactivity, Polyphagia ORPHA:228402
Wilson Disease
Hepatic steatosis, Cirrhosis, Weight loss, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic fa... ORPHA:905
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Hyperactivity, Inguinal hernia, Arthrogryposis multiplex congenita, Um... OMIM:615834
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary gonadal insufficiency, Delayed puberty, Elevated circulating luteinizing hormone level, A... ORPHA:90796
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Gastroesophageal reflux, Hepatoc... OMIM:201475
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Failure to thrive, Elevated hepatic trans... OMIM:615438
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Nonke... OMIM:608836
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Hepatic failure, Elevated circulating alanine aminotransferase ... ORPHA:2088
Pick Disease Of Brain
Polyphagia OMIM:172700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... OMIM:619418
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Achilles tendon contracture, Microvesicular hepatic steatosis, Impaired oropharyngeal swallow res... ORPHA:404454
Ppoma
Intestinal carcinoid, Gastrointestinal hemorrhage, Constipation, Abnormality of the thyroid gland... ORPHA:97278
Tenorio Syndrome
Gastroesophageal reflux, Stomatitis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Glucagonoma
Gastrointestinal hemorrhage, Constipation, Abnormality of the thyroid gland, Primary hyperparathy... ORPHA:97280
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Frontotemporal Dementia
Polyphagia OMIM:600274
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating growth hormon... OMIM:300942
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:369840
Familial Chylomicronemia Syndrome
Hepatic steatosis, Acute pancreatitis, Hyperlipidemia, Recurrent pancreatitis, Hepatosplenomegaly... ORPHA:444490
Hyperphosphatasia With Mental Retardation Syndrome 6
Flexion contracture, Hyperactivity, Knee flexion contracture, Inguinal hernia, Hip contracture, E... OMIM:616809
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Type I diabetes mellitus, Insulin resistance, Recurrent pancreatitis, Hypercholest... OMIM:606721
Dysbetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Obesity, Hepatomegal... ORPHA:412
Craniopharyngioma
Central diabetes insipidus, Neoplasm of the anterior pituitary, Hypogonadotropic hypogonadism, Hy... ORPHA:54595
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated hepatic transaminase, Cardiomegaly, Macrovesicul... OMIM:600649
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Vomiting OMIM:201450
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Elevated hepatic transami... OMIM:619013
Angelman Syndrome
Precocious puberty in females, Constipation, Gastroesophageal reflux, Obesity, Hyperactivity, Dys... ORPHA:72
Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Enamel hypoplasia, Obesity, Hy... ORPHA:79444
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... OMIM:619525
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Fa... ORPHA:79303
Turner Syndrome Due To Structural X Chromosome Anomalies
Biliary cirrhosis, Gastrointestinal inflammation, Failure to thrive in infancy, Hashimoto thyroid... ORPHA:99413
Turner Syndrome
Biliary cirrhosis, Gastrointestinal inflammation, Failure to thrive in infancy, Hashimoto thyroid... ORPHA:881
Mosaic Monosomy X
Biliary cirrhosis, Gastrointestinal inflammation, Failure to thrive in infancy, Hashimoto thyroid... ORPHA:99228
Monosomy X
Biliary cirrhosis, Gastrointestinal inflammation, Failure to thrive in infancy, Hashimoto thyroid... ORPHA:99226
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hepatomegaly, Eleva... ORPHA:348
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminas... ORPHA:541423
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Vomiting, Failure to thrive, Elevated... ORPHA:71
Grfoma
Intestinal carcinoid, Gastrointestinal hemorrhage, Constipation, Abnormality of the thyroid gland... ORPHA:97261
Interstitial Lung And Liver Disease
Hypothyroidism, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:615486
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Nausea, Hypoglycemia, Hepatic steatosis, Hepatic periportal necrosis, Jaundice, Hepat... OMIM:231680
Pearson Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Hypothyroidism, Adrenal insufficiency, Hepatic fai... ORPHA:699
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Failure to th... ORPHA:320
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Dorsocervical fat pad, Tr... ORPHA:96253
Beta-Ketothiolase Deficiency
Hypoglycemia, Weight loss, Hepatomegaly, Oral aversion, Hyperglycemia, Diarrhea, Vomiting ORPHA:134
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hypoglycemia, Hypoglycemic seizures, Pancreatitis, Ulcerative colitis, Diarrhea, ... ORPHA:79259
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Diarrhea, Vomiting ORPHA:230
13Q12.3 Microdeletion Syndrome
Constipation, Hyperactivity, Obesity, Congenital diaphragmatic hernia, Failure to thrive, Camptod... ORPHA:412035
Adnp Syndrome
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Truncal obesity, Inguinal hernia, Attention d... ORPHA:404448
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Portal hypertension, Cholestasis, Inguinal hernia, Hepatitis, Arthrogryposis... ORPHA:440713
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic steatosis, Portal hypertension, Acute pancreatitis, Hepatosplenomegaly, L... OMIM:619487
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Acute hepatic steatosis, Hypoglycemia, Vomiting OMIM:210200
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Gonadotropin deficiency, Central diabetes insipidus, Abnormality of the hypothalamus-pi... ORPHA:293987
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Hypoglycemia, Portal hypertension, Cholestasis, Slender build, Bile duct proli... OMIM:613658
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
7Q11.23 Microduplication Syndrome
Hyperactivity, Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Polyphagia, Chronic con... ORPHA:96121
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Pseudohypoparathyroidism Type 1A
Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Enamel hypoplasia, Obesity, Hy... ORPHA:79443
Potocki-Lupski Syndrome
Hypothyroidism, Small for gestational age, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Hy... OMIM:610883
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute... OMIM:617253
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Truncal obesity, Paradoxical increased cortisol secretion on dexamethas... OMIM:610475
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Hypoglycemia, Flexion contracture, Gastroesophageal reflux, Hepatomegaly, Fail... ORPHA:17
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Hyperactivity, Truncal obesity, Fail... ORPHA:73272
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia, Fulminant h... OMIM:231530
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypoglycemia, Carcinoid tumor, Thyroid adenoma, Pituitary prolactin cell ade... OMIM:131100
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis, Primary adrenal insufficiency ORPHA:977
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Hypothyroidism, Gastroesophageal reflux, Hyperactivity, Congenital d... ORPHA:363528
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Pancreatic hypoplasia, Failure to thrive, Neonatal insulin-dependent diabetes mellitu... ORPHA:99885
Monosomy 13Q34
Hematochezia, Hepatic steatosis, Obesity, Insulin resistance ORPHA:96168
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Nonketotic hypoglycemia, Acute hepatic failure, Failure to thrive, Elevated he... ORPHA:99901
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly, Hepatomegaly, Inguinal hernia, Umbilical hernia, Diarrhea OMIM:252900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Hepatomegaly, Hypoketotic hypoglycemia, Elevated hepatic tran... ORPHA:228305
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity, Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Failure to thrive, Elevated hepatic transaminas... ORPHA:2089
Necrotizing Enterocolitis
Bloody diarrhea, Small for gestational age, Peritonitis, Ascites, Abnormal glucose homeostasis, H... ORPHA:391673
Mandibuloacral Dysplasia Progeroid Syndrome
Flexion contracture, Left ventricular hypertrophy, Generalized lipodystrophy, Hepatomegaly, Eleva... OMIM:619127
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Glycosuria, Decreased liver function, Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis,... ORPHA:436271
Mitochondrial Trifunctional Protein Deficiency
Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypoparathyroidism, Chronic ... ORPHA:746
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Eunuchoid habitus, Enlarged polyc... ORPHA:91
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Hepatomegaly, Elevated hepatic transaminase OMIM:212138
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618858
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Precocious puberty, Hypogonadism, Hernia ORPHA:3306
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Obesity, Acute hepa... ORPHA:209902
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Pituitary prolactin cell adenoma... ORPHA:251937
Alström Syndrome
Hepatic failure, Decreased circulating T4 level, Increased circulating androgen concentration, Ab... ORPHA:64
Intellectual Disability, Birk-Barel Type
Congenital finger flexion contractures, Hyperactivity, Contractures involving the joints of the f... ORPHA:166108
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis ORPHA:445038
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhage, Ascites, Splenom... ORPHA:2137
Steinert Myotonic Dystrophy
Cholelithiasis, Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Constipa... ORPHA:273
Luscan-Lumish Syndrome
Polyphagia, Obesity OMIM:616831
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Small fo... ORPHA:567983
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Cholangitis, Decreased liver functio... OMIM:124000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hypothyroidism, Hepatic steatosis, Jaundice, Diabete... ORPHA:93111
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Weight loss, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipid accumulat... ORPHA:20
1P36 Deletion Syndrome
Hypothyroidism, Hepatic steatosis, Abnormality of the liver, Constipation, Gastroesophageal reflu... ORPHA:1606
Infantile Neuroaxonal Dystrophy
Constipation, Flexion contracture, Choking episodes, Hyperactivity ORPHA:35069
Abetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Vomiting, Chronic diarrhea, Hepatomegaly, Failure to thrive, E... ORPHA:14
Lysosomal Acid Lipase Deficiency
Primary adrenal insufficiency, Hepatic failure, Fatal liver failure in infancy, Ascites, Hyperspl... ORPHA:275761
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Hyperactivity, Congenital diaphragmatic hernia, Attention deficit hyperactivity ... OMIM:614294
X-Linked Cerebral Adrenoleukodystrophy
Primary adrenal insufficiency, Decreased circulating cortisol level, Hyperactivity, Male hypogona... ORPHA:139396
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Decreased liver function, Failure to thrive, Elevated hepa... OMIM:618329
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Hepatic steatosis, Increased subcutaneous truncal adipose tissue, ... ORPHA:3455
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Flexion contracture, Splenomegaly, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:617303
D-Bifunctional Protein Deficiency
Hepatic steatosis, Primary adrenal insufficiency, Cholestasis, Bile duct proliferation, Splenomeg... OMIM:261515
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hyperlipidemia, Hepatomegaly, Hypoketotic hypoglycemia, Cardi... ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
Pmm2-Cdg
Lipodystrophy, Hypogonadotropic hypogonadism, Insulin resistance, Hyperinsulinemia, Multiple join... ORPHA:79318
16P12.1P12.3 Triplication Syndrome
Hyperactivity, Failure to thrive, Abnormality of the intrahepatic bile duct, Decreased response t... ORPHA:485405
Fructose Intolerance, Hereditary
Glycosuria, Nausea, Hypoglycemia, Hepatic steatosis, Gastrointestinal hemorrhage, Hepatomegaly, J... OMIM:229600
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Failure to thrive, Prolonged neonatal jaundice, Ep... OMIM:619377
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Digeorge Syndrome
Cholelithiasis, Hypothyroidism, Hepatic steatosis, Parathyroid agenesis, Gastroesophageal reflux,... OMIM:188400
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia, Elevated hepatic transaminase OMIM:611126
White-Sutton Syndrome
Hypoglycemic seizures, Constipation, Gastroesophageal reflux, Obesity, Hyperactivity, Congenital ... OMIM:616364
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Absent gallbladder, Pancreatic hypoplasia, Congenital diaphragmatic hernia, Inguinal ... OMIM:600001
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder OMIM:615538
Mucopolysaccharidosis, Type Iiid
Achilles tendon contracture, Hyperactivity, Splenomegaly, Hepatomegaly, Inguinal hernia, Dysphagi... OMIM:252940
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Failure... OMIM:203700
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Obesity, Inguinal hernia, Cachexia, Camptodactyly of finger, Hypogonadism ORPHA:85293
Acquired Aneurysmal Subarachnoid Hemorrhage
Nausea, Hypothyroidism, Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism, Hype... ORPHA:90065
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Amelogenesis imperfecta, Enamel hypoplasia, Hernia, Hyperactiv... OMIM:617052
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Decreased body weight, Flexion contracture, Hyperactivity, Failure to thrive OMIM:300534
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Glycosuria, Increased hepatocellular lipid droplets, Decreased liver function, Hepatomegaly, Fail... OMIM:220110
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia, Elevated hepatic transam... ORPHA:66634
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone c... ORPHA:3464
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Neutral Lipid Storage Myopathy
Hepatic steatosis, Pineal cyst, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Diabetes melli... ORPHA:98908
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Annular ... OMIM:615710
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia ORPHA:251028
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Hepatic steatosis, Flexion contracture, Hepatosplenomegaly, Portal hyperte... OMIM:619503
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration, Cholestasis ORPHA:53693
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:619573
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatic steatosis, Hepatosplenomegaly, Gastrointestinal hemorrhage, Cholestasis, Hypercholesterol... ORPHA:247598
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Constipation, Hyperactivity, Obesity, Dysphagia, Abnormal eating behavior ORPHA:98794
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity, Vomiting OMIM:609727
Distal Monosomy 12Q
Congenital hypertrophy of left ventricle, Failure to thrive in infancy, Hyperactivity, Obesity, M... ORPHA:96149
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary OMIM:619321
Neutral Lipid Storage Disease With Ichthyosis
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Micronodula... ORPHA:98907
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hypothyroidism, Gastroesophageal reflux, Hyperthyroidism, Hyperactivity, Diabetes mellitus, Atten... ORPHA:449291
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Pyruvate Carboxylase Deficiency
Hypoglycemia, Hepatomegaly, Failure to thrive, Hyperglycemia, Vomiting ORPHA:3008
African Trypanosomiasis
Abnormality of circulating cortisol level, Nausea, Hepatosplenomegaly, Weight loss, Abnormal grow... ORPHA:3385
Chromosome 1P36 Deletion Syndrome, Distal
Hypothyroidism, Constipation, Gastroesophageal reflux, Obesity, Congenital hypothyroidism, Dyspha... OMIM:607872
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Decreased body weight, Constipation, Hyperactivity, Obesity, Jaundice, Overwei... OMIM:619475
Brain-Lung-Thyroid Syndrome
Abnormality of the thyroid gland, Thyroid dysgenesis, Hyperactivity, Congenital hypothyroidism, C... ORPHA:209905
White-Sutton Syndrome
Ventral hernia, Gastroesophageal reflux, Obesity, Hyperactivity, Congenital diaphragmatic hernia,... ORPHA:468678
Legius Syndrome
Multiple lipomas, Attention deficit hyperactivity disorder, Hyperactivity, Xanthelasma ORPHA:137605
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Hepatocellular necrosis, Fail... OMIM:618278
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyrotoxicosis with diffuse goiter, Weight loss, Small for gestational age, Hyperactivity, Hypert... ORPHA:424
Coffin-Siris Syndrome
Hepatoblastoma, Papillary thyroid carcinoma, Hernia, Hyperactivity, Oral aversion ORPHA:1465
Mucopolysaccharidosis Type 3
Intermittent diarrhea, Flexion contracture, Constipation, Hyperactivity, Splenomegaly, Hepatomega... ORPHA:581
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Achalasia, Hepatomegaly, Elevated hepatic transaminase, Esophagitis OMIM:615356
Familial Gestational Hyperthyroidism
Thyrotoxicosis with diffuse goiter, Weight loss, Hyperactivity, Hyperthyroidism, Activating thyro... ORPHA:99819
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse goiter, Constipation, ... ORPHA:79102
Early-Onset Schizophrenia
Polyphagia, Attention deficit hyperactivity disorder ORPHA:96369
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Anterior pituitary hypoplasia, Gastroesop... ORPHA:464306
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Hyperactivity, Obesity, Congenital hypothyroidism, Diabetes mellitus, E... ORPHA:280651
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, Hyperactivity, Inguinal hernia, Failure to thrive, Attention deficit h... OMIM:607721
Brooks-Wisniewski-Brown syndrome
Hyperactivity, Flexion contracture, Small for gestational age OMIM:300612
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Constipation, Gastroesophageal reflux, Obesity, Hyperglycemia, Decreased response... ORPHA:444077
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly OMIM:243910
Hyperthyroidism, Nonautoimmune
Small for gestational age, Hyperactivity, Hyperthyroidism, Goiter, Thyroid hyperplasia OMIM:609152
Tuberous Sclerosis Complex
Shagreen patch, Hyperactivity, Parathyroid adenoma, Pancreatic endocrine tumor, Pheochromocytoma,... ORPHA:805
Early Infantile Epileptic Encephalopathy
Failure to thrive, Umbilical hernia, Precocious puberty, Hyperactivity ORPHA:1934
Dend Syndrome
Hyperglycemia, Vomiting ORPHA:79134
Visceral Steatosis, Congenital
Hepatic steatosis, Hypoglycemia, Jaundice OMIM:228100
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Gastroesophageal reflux, Multiple joint contractures, Hyperactivity, Dysphagia ORPHA:447997
Scorpion Envenomation
Glycosuria, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Hy... ORPHA:466677
Argininemia
Cholestasis, Hyperactivity, Hepatomegaly, Episodic vomiting, Portal fibrosis, Micronodular cirrho... OMIM:207800
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Recurrent aphthous stomatitis ORPHA:2968
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal scarring, Atypical scarring of skin, Hyperactivity, Dysphagia, Fasciitis ORPHA:642
Monosomy 22Q13.3
Umbilical hernia, Gastroesophageal reflux, Obesity, Hyperactivity ORPHA:48652
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Gastrointestinal hemorrhage, Small for gestational age, Gastro... ORPHA:508488
Homozygous Familial Hypercholesterolemia
Hepatic steatosis, Hyperlipidemia, Hypercholesterolemia 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.

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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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