Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
aryl hydrocarbon receptor nuclear translocator 2
Synonyms:
bHLHe1

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 Arnt2 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.

The table below shows human diseases associated to Arnt2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Arnt2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity And Hypopigmentation
Hyperinsulinemia, Overgrowth, Polyphagia, Obesity, Hepatic steatosis OMIM:620195
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Polyphagia, Obesity,... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia, Aggressive behavior ORPHA:329249
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276575
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Glucose intolerance ORPHA:369873
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Agitation, Diffuse pancreatic isl... ORPHA:276556
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin, Insulin resistance OMIM:617885
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weigh... ORPHA:276608
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... OMIM:620303
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Obesity, Hypogonadism OMIM:614962
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Polyphagia, Primary hyper... ORPHA:97279
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Polyphagia, Hypogonadism OMIM:617119
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... OMIM:613986
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia OMIM:222100
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Ectopic pos... ORPHA:67045
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia, Motor stereotypy OMIM:613886
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss... OMIM:604367
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 ORPHA:140941
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Temple Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Precocious puberty, Obesity, T... ORPHA:254516
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Hepatosplenomegaly,... OMIM:612526
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Hepatic steatosis, Type II diabetes mellitus OMIM:615703
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancre... ORPHA:552
Diarrhea 13
Failure to thrive, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Re... OMIM:620357
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Obesity, Polyphagia, Aggressive behavior OMIM:616521
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Abnorm... OMIM:275000
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of truncal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue from upper limbs... OMIM:608709
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Elevated circulating hepatic ... ORPHA:263455
14Q11.2 Microduplication Syndrome
Polyphagia, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decreased adip... ORPHA:79085
Lipodystrophy, Congenital Generalized, Type 1
Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Cirrhosi... OMIM:608594
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... OMIM:232700
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Cryptorchidism,... OMIM:615849
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Hypergonadotropic h... OMIM:617872
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia, Hypogonadotropic hypogonadism ORPHA:177910
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:95496
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Hyperactivity, Reduced subc... ORPHA:363400
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom... OMIM:614480
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Impaired gr... OMIM:618157
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Abdominal obesity, Insulin resistance, Diabetes mellitus, Hepatic steatosis OMIM:615980
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia... ORPHA:35878
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mel... OMIM:613877
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne... ORPHA:435660
Lipodystrophy, Congenital Generalized, Type 2
Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Cirrhosi... OMIM:269700
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Decreased serum leptin, Lipodystrophy, Decreased adiponectin level, Diabetic ketoac... OMIM:615238
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, Failure to thrive, Prop... ORPHA:528
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adi... ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the ne... OMIM:608600
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Left ventricular hyper... OMIM:619048
Perlman Syndrome
Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femo... ORPHA:2849
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Renal Glucosuria
Polydipsia, Glycosuria, Polyphagia OMIM:233100
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Loss of truncal subcutaneous adipose tissue, Increased intramuscu... OMIM:151660
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Polyphagia, Obesity, Overfriendliness, Attention deficit hyperactivity disorder OMIM:620439
Joubert Syndrome 38
Decreased response to growth hormone stimulation test, Ectopic posterior pituitary, Small pituita... OMIM:619476
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Obesity, Polyphagia ORPHA:171829
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Schaaf-Yang Syndrome
Polyphagia, Impulsivity, Camptodactyly, Obesity, Skin-picking, Flexion contracture, Hypogonadism,... OMIM:615547
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Increased circulating insulin-like growth factor 1 concentration, Overgrowth, Polyp... OMIM:300942
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Growth Hormone Deficiency, Isolated Partial
Decreased response to growth hormone stimulation test, Small pituitary gland OMIM:615925
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis ORPHA:26792
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Joubert Syndrome 10
Obesity, Decreased body weight, Polyphagia, Frequent temper tantrums OMIM:300804
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Huntington Disease
Agitation, Decreased body mass index, Oral-pharyngeal dysphagia, Compulsive behaviors, Polyphagia... ORPHA:399
Insulin-Resistance Syndrome Type B
Increased body weight, Biliary cirrhosis, Fasting hyperinsulinemia, Postprandial hyperglycemia, H... ORPHA:2298
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Loss of... OMIM:615381
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, Failure to thrive, Hepatosplenome... ORPHA:79237
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Decreased body weight, Polyphagia OMIM:620085
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Abnormal circulating ho... ORPHA:785
Combined Oxidative Phosphorylation Deficiency 52
Anorexia, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619386
Hepatic Veno-Occlusive Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Increased body w... ORPHA:890
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Pituitary Carcinoma
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... ORPHA:300385
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98793
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Decreased response to growth hormone stimulation test, Polyphagia, Hypergo... OMIM:606407
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177904
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Polydipsia, Jaundice, Elev... ORPHA:525731
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia OMIM:600274
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... ORPHA:177901
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:618400
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H... ORPHA:79319
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Craniopharyngioma
Delayed puberty, Enlarged pituitary gland, Central diabetes insipidus, Hydrocephalus, Pituitary h... ORPHA:54595
Isolated Growth Hormone Deficiency, Type Ii
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Decreased s... OMIM:173100
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Polyphagia, Central hypothyr... ORPHA:398079
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Very long chain... OMIM:264470
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Inflexible adherence to routines, Obesity, Motor stereotypy, Self-injurious... OMIM:613670
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Loss of subcutaneous adipo... ORPHA:79083
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Panniculitis, Generalized lipodystrophy, Acute pancrea... ORPHA:79086
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissue in limbs, Cellulitis... ORPHA:2348
Luscan-Lumish Syndrome
Obesity, Overgrowth, Polyphagia, Aggressive behavior OMIM:616831
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Impaired gluconeogenesis, Microvesicular hepatic steatosis, Reduced muscle carnitin... OMIM:212140
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615841
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Splenomegaly... OMIM:261750
Mandibuloacral Dysplasia
Lipoatrophy, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose ti... ORPHA:2457
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Premature pubarche, Small pituitary gland, Increased body weight, Compu... ORPHA:398069
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Pituitary h... ORPHA:231720
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis, Hypogonadism OMIM:615996
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:616829
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Failure ... OMIM:613327
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:615842
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Attention deficit hyperactivity disorder, Multiple lipomas, Hepatic steatosis,... ORPHA:210548
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Obesity, Cholesterol gall... ORPHA:209902
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase con... ORPHA:264580
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv... ORPHA:300536
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Neonatal hypoglycemia, Anterior hypopituitarism, Prolonged neonatal jaundice, Ab... ORPHA:631
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Hepatic failure, Elevated circ... OMIM:278000
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Abnormal dental enamel morphology, Polyphagia, Obesity ORPHA:251004
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Mehmo Syndrome
Obesity, Diabetes mellitus, Agitation ORPHA:85282
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatomegaly, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepa... OMIM:602579
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Hypoglycemia, Ma... OMIM:300148
Wagro Syndrome
Agitation, Polyphagia, Compulsive behaviors, Obesity, Aggressive behavior OMIM:612469
Prader-Willi Syndrome
Delayed puberty, Self-injurious behavior, Decreased response to growth hormone stimulation test, ... OMIM:176270
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... OMIM:231530
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Angelman Syndrome
Precocious puberty in females, Tongue thrusting, Hyperactivity, Delayed menarche, Recurrent hand ... ORPHA:72
Secondary Short Bowel Syndrome
Primary hypothyroidism, Cholestasis, Polyphagia, Central hypothyroidism, Failure to thrive, Weigh... ORPHA:95427
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... OMIM:618805
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:201450
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Hepatic steatosis ORPHA:209919
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hepatomegaly, Pancreatitis, Increased facial adipose tissue, Loss of subcutaneous ad... ORPHA:280365
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hepatomegaly, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose t... OMIM:248370
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hypothyroidism, Obesity, Diabetes mellitus, Hepatic steatosis ORPHA:412
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypogly... OMIM:613027
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Elevated circulating hepatic transaminase concentration, ... ORPHA:101330
Neurooculorenal Syndrome
Aqueductal stenosis, Decreased circulating ACTH concentration, Hydrocephalus, Central hypothyroid... OMIM:620305
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Cryptorchidism, Elevated circulating foll... OMIM:620103
Panhypophysitis
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulating prolactin... ORPHA:95513
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Pituitary hy... ORPHA:95512
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphalocele, Impaired se... OMIM:614450
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Obesity, Splenomegaly, Hepatic fibrosis, G... OMIM:615630
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis, Type II diabetes mellitus ORPHA:2377
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hepatocellular carcinoma,... ORPHA:2088
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Elevated circulating hep... OMIM:203800
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp... OMIM:615830
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Failure to thrive, Hepatic steatosis, Dysphagia ORPHA:70472
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:605911
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hepatocellular necrosis, Cardiomegaly... OMIM:201475
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u... ORPHA:1501
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Failure to thrive, Ele... OMIM:614582
Seckel Syndrome 10
Glucose intolerance, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanine... OMIM:617253
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:369840
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Supernumerary nipple, Interhypothalamic adhesion OMIM:618929
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Large for gestational age, Agitation, Aggressive behavior OMIM:616116
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Aromatase Deficiency
Tall stature, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obe... ORPHA:91
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Overweight, Recurrent hand flapping, Pica OMIM:615032
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat... OMIM:617093
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:228305
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Neurodevelopmental Disorder With Language Delay And Seizures
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism OMIM:619908
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism OMIM:610628
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:606176
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Citrullinemia Type Ii
Decreased body mass index, Elevated circulating hepatic transaminase concentration, Pancreatitis,... ORPHA:247585
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity, Type II diabetes mellitus, Abnormality of the thyroid gland, Hypogona... ORPHA:2234
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Agitation, Polyphagia, Disinhibition, Repetitive compulsive behavior, Hypersexuality OMIM:607485
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:212138
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Rabson-Mendenhall Syndrome
Polydipsia, Increased circulating androgen concentration, Increased serum testosterone level, Fas... ORPHA:769
Gangliocytoma
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Abnormal prolactin level... ORPHA:251937
19P13.12 Microdeletion Syndrome
Hyperactivity, Hypothyroidism, Precocious puberty, Obesity, Self-injurious behavior, Arthrogrypos... ORPHA:254346
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Pancreatitis, Inguinal hernia, Failure to thrive, Disproportionate tall stature, He... OMIM:236200
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Hypothyroidism, Hepatosplenomegaly, Hypo... OMIM:619013
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Familial Chylomicronemia Syndrome
Jaundice, Decreased body weight, Acute pancreatitis, Failure to thrive, Hepatosplenomegaly, Recur... ORPHA:444490
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent hand flapping, Polyphagia, Inappropriate laughter, Self-injurious behavior, Bruxism, Ag... OMIM:156200
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Hypoglycemia, Acute hepatic steatosis OMIM:210200
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Monosomy 13Q34
Insulin resistance, Obesity, Hepatic steatosis ORPHA:96168
Biemond Syndrome Type 2
Delayed puberty, Obesity, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
Temple Syndrome
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Flexion contracture, Overweigh... OMIM:616222
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Gracile Syndrome
Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis ORPHA:53693
Weaver Syndrome
Inguinal hernia, Overgrowth, Polyphagia, Camptodactyly, Umbilical hernia, Joint contracture of th... OMIM:277590
Non-Functioning Pituitary Adenoma
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... ORPHA:91349
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micr... OMIM:619418
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:541423
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Inguinal hernia, Compulsive behaviors, Polyp... ORPHA:404448
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Camptodactyly, Failure to ... ORPHA:79322
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Decreased pineal volume OMIM:301108
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Decreased body weight, Inc... ORPHA:508
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Hepatic steatosis OMIM:231680
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Hyperactivity, Polyphagia, Obesity, Collectioni... ORPHA:96121
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hypoglycemia, Elevated circulating hepatic transaminase concent... OMIM:611126
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia, Failure to thri... ORPHA:99901
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Sple... OMIM:610717
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618857
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Failure to thrive, Achilles t... OMIM:616263
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Alexander Disease Type I
Hydrocephalus, Abnormal thalamic MRI signal intensity ORPHA:363717
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:79240
Pallister-Hall-Like Syndrome
Hydrocephalus, Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Ascite... OMIM:619487
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Enlarged kidney, Hyperactivity, Polyphagia... OMIM:615873
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity ORPHA:589905
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Self-mutilation, Polyphagia, Restlessness, Aggressive behavior ORPHA:251028
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Hydrocephalus, Pituitary ... ORPHA:91350
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity, Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesi... OMIM:608836
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Pituitary hypothyroidism, Thyroid hypoplasia, Reduce... ORPHA:99832
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation, Hypothalamic atrophy ORPHA:2822
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Inguinal hernia, Overgrowth, Umbilical hernia OMIM:618272
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Hyperactivity, Obesity, Aggressive behavior ORPHA:3077
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Bardet-Biedl Syndrome 21
Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Hyperglycemia, Type II diabetes mellitus, Truncal obesity OMIM:615812
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami OMIM:617542
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Tubulinopathy-Associated Dysgyria
Ventriculomegaly, Abnormal thalamus morphology ORPHA:467166
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Cholestasis, Elevated circulating alanine aminotransferase concentration, Failur... OMIM:614300
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary ORPHA:98889
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Congen... ORPHA:226313
1P36 Deletion Syndrome
Annular pancreas, Polyphagia, Hypothyroidism, Failure to thrive, Obesity, Camptodactyly of finger... ORPHA:1606
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferas... OMIM:610198
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion ORPHA:69665
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Obesity OMIM:603233
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hypothyroidism, Obesity, Abnormality of the thyroid gland, D... ORPHA:77296
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Senior-Loken Syndrome 9
Obesity, Cholestasis, Hepatic fibrosis, Hypogonadism OMIM:616629
Smith-Magenis Syndrome
Hyperactivity, Head-banging, Increased body weight, Self hugging, Abnormality of the thyroid glan... OMIM:182290
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Stereotypical hand wringing, Precocious pu... ORPHA:163681
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology ORPHA:68
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Diffuse hepatic steatosis ORPHA:436271
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Testicular atrophy, P... ORPHA:465508
Neutral Lipid Storage Myopathy
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Incr... ORPHA:98908
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee... OMIM:300972
Chylomicron Retention Disease
Failure to thrive, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, In... ORPHA:71
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Impaired glucose tolerance, Obesity, Pituitary adenoma, Abdominal... OMIM:219090
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Hepatic steatosis, Neonatal hypoglycemia, Elevated circulating hepatic transamina... ORPHA:445038
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Solitary Fibrous Tumor
Pelvic mass, Abnormal peritoneum morphology, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia... ORPHA:2126
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transamina... ORPHA:93111
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute ... ORPHA:20
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst OMIM:617516
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Truncal obesity, Small for ges... ORPHA:96184
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypoketotic hypoglycemia, Cholestasis, Chronic hepatic failure, Left ventricu... ORPHA:746
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Lipodystrophy, Hypogonadism OMIM:619273
Ulnar-Mammary Syndrome
Delayed puberty, Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Ectopic p... OMIM:181450
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Microvesicular he... ORPHA:66634
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Igg4-Related Thyroid Disease
Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita... ORPHA:64744
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Hepatomegaly, Elevated circulating hepatic transam... OMIM:212065
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Hypoparathyroidism, Elevated... ORPHA:699
Sotos Syndrome
Neonatal hypoglycemia, Tall stature, Increased body weight, Overgrowth, Prolonged neonatal jaundi... OMIM:117550
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Dilated third ventricle OMIM:619725
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Glycosuria, Failure to thrive, Increased intramyocellular... OMIM:220110
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Flexion... ORPHA:17
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperglycemia, Ab... OMIM:615710
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hepatic steatosis, Flexion contracture OMIM:616271
Fructose Intolerance, Hereditary
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Glyco... OMIM:229600
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly OMIM:605309
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99413
Citrullinemia, Type Ii, Neonatal-Onset
Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Portal fibrosis, Microvesi... OMIM:605814
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99226
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ... OMIM:613154
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly, Hepatic calcification, Hepatic steatosis, H... ORPHA:228308
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Ectopic posterior pituitary ORPHA:508488
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h... ORPHA:64
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis OMIM:614922
Wilson Disease
Cirrhosis, Jaundice, Hypoparathyroidism, Portal fibrosis, Hepatomegaly, Hepatocellular carcinoma,... OMIM:277900
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Fetal ascites... OMIM:261515
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst OMIM:618885
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hepatomegaly, Hyperglycemia, Weight loss, Hypoglycemia, Oral aversion ORPHA:134
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Angelman Syndrome Due To A Point Mutation
Tongue thrusting, Recurrent hand flapping, Obesity, Inappropriate laughter, Dysphagia, Abnormal e... ORPHA:411511
Prolactinoma
Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy... ORPHA:2965
Osteootohepatoenteric Syndrome
Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Failure to thrive, Prolonged neon... OMIM:619377
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Enlar... ORPHA:79259
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia, Small for gestational age ORPHA:254534
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
Septo-Optic Dysplasia Spectrum
Polydipsia, Maternal diabetes, Diabetes insipidus, Anterior pituitary hypoplasia, Abnormality of ... ORPHA:3157
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... ORPHA:26793
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism, Dilated third ventricle, Lateral ventricle dilatation OMIM:619244
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, In... ORPHA:98907
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism OMIM:601794
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Type II diabetes mellitus ORPHA:401923
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Miscarriage ORPHA:1947
Perrault Syndrome 4
Hypoplasia of the ovary, Obesity, Disproportionate tall stature, Decreased serum estradiol, Incre... OMIM:615300
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Attention deficit hyperactivity d... OMIM:620185
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inguinal hernia, Elevated ... OMIM:619525
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Death in infancy OMIM:619046
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland ORPHA:369950
Chromosome 1P36 Deletion Syndrome, Distal
Polyphagia, Camptodactyly, Congenital hypothyroidism, Hypothyroidism, Oppositional defiant disord... OMIM:607872
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Polyphagia, Fixated interests, Motor stereotypy, Umbilical hernia, Att... OMIM:620330
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Obsessive-compulsive trait, Abnormality of thyroid physiology, H... ORPHA:273
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis OMIM:616672
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Ascites, Biliary hyperplasia, Splenomega... OMIM:619991
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Reduced subcutaneous adipose tissue... OMIM:609069
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Reduced circulating prolactin concentr... ORPHA:2235
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Lysosomal Acid Lipase Deficiency
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Cach... ORPHA:275761
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Bloom Syndrome
Small for gestational age, Hepatic steatosis, Type II diabetes mellitus OMIM:210900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi... OMIM:300868
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ste... ORPHA:404454
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperactivity, Impulsiv... OMIM:619475
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Left ventricular hypertrophy, Biliary tract abnormality, Obesity,... OMIM:209900
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Hypogonadism, Ventriculomegaly, Cryptorchidism ORPHA:500055
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Precocious puberty, Obesity, Hepatosplenomegaly, Motor stereotypy, ... OMIM:301066
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal insufficiency,... ORPHA:91347
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Flexion contracture, Splenomegaly OMIM:617303
Perlman Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Visceromegaly, Ascites, Hypoglycemia,... OMIM:267000
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypothyroidism,... ORPHA:14
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Impaired fasting glucose, Elevated circulating hepatic transamin... ORPHA:110
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Rhombencephalosynapsis
Hydrocephalus, Ventriculomegaly, Fusion of the left and right thalami ORPHA:59315
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Cushing Disease
Increased urinary cortisol level, Increased body weight, Impaired glucose tolerance, Adrenal hype... ORPHA:96253
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dilated third ventricle, Bilateral cryptorchidism, Lateral ventricle dilatation ORPHA:544488
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:619127
Immunodeficiency 87 And Autoimmunity
Jaundice, Hepatomegaly, Cholestasis, Ascites, Elevated circulating alanine aminotransferase conce... OMIM:619573
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Abdominal obesity, Hepatic steatosis, Flexion contracture OMIM:619321
Arima Syndrome
Polydipsia, Cirrhosis, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:243910
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dandy-Walker malformation, Dilated third ventricle, Colpocephaly, Lateral ventricle dilatation, V... ORPHA:397715
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... ORPHA:247598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:615356
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Digeorge Syndrome
Cholelithiasis, Inguinal hernia, Hypoplasia of the thymus, Femoral hernia, Hypothyroidism, Obesit... OMIM:188400
Cach Syndrome
T2 hypointense thalamus ORPHA:135
New-Onset Refractory Status Epilepticus