Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prolactin releasing hormone
Synonyms:
EG623503

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 Prlh 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 Prlh by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intolerance, Obesit... ORPHA:369873
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... ORPHA:71526
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis, Overgrowth, Polyphagia OMIM:620195
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol c... OMIM:615703
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Loss ... ORPHA:280356
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Transient Neonatal Diabetes Mellitus
Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... ORPHA:263458
Lipase Deficiency, Combined
Pancreatitis, Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic s... ORPHA:528
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc... ORPHA:552
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis ORPHA:79087
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... OMIM:615381
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficienc... OMIM:609734
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy... ORPHA:263455
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... OMIM:620357
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... OMIM:617872
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... ORPHA:35878
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Umbilical hernia, Ta... OMIM:608594
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Hypertriglyceridemia 1
Hypopituitarism, Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Riboflavin Transporter Deficiency
Hypogonadism, Abnormal cranial nerve morphology, Aggressive behavior, Cachexia, Facial palsy, Abn... ORPHA:97229
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Hyperins... OMIM:269700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Polyphagia, Hypervalin... OMIM:620085
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Flexion contracture OMIM:618856
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Sparse body hair ORPHA:85274
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Optic atrophy, Failure to thrive, Hepatic steat... ORPHA:26792
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Splenomegaly, Lipodystrophy, Pancreatitis, Los... ORPHA:2348
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch... ORPHA:79237
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroid... ORPHA:261229
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Thick eyebrow OMIM:309585
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... OMIM:619048
Mantle Cell Lymphoma
Weight loss, Fever, Anorexia ORPHA:52416
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... ORPHA:226313
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adrenal insufficienc... OMIM:619386
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Cirrhosis, ... OMIM:606069
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia... OMIM:618620
Mitchell Syndrome
Dysphagia, Abnormal autonomic nervous system physiology OMIM:618960
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Elevated circulating hepatic transaminase concentration, Failure to thrive, H... OMIM:613327
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Intellectual Developmental Disorder, X-Linked 97
Obesity, Synophrys OMIM:300803
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, Polyphagia, Hypopigmentation of hair ORPHA:177910
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity OMIM:620270
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Decreased distal sensory nerve action potential, Elevated circul... OMIM:618400
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia OMIM:615924
Perlman Syndrome
Abnormal pancreas morphology, Tall stature, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femo... ORPHA:2849
11P15.4 Microduplication Syndrome
Highly arched eyebrow, Obesity, Aggressive behavior, Synophrys ORPHA:300305
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hypertrichosis, Hyperglycemia, Hyperinsulinemia, ... OMIM:246200
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Hypothermia, Elevated circulating thyroid-stimulating hor... ORPHA:95717
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transa... ORPHA:247585
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... OMIM:278000
Riboflavin Deficiency
Hypothermia, Hypoglycemia OMIM:615026
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:274300
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... OMIM:605814
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Joubert Syndrome 10
Recurrent fever, Obesity, Frequent temper tantrums, Hirsutism, Decreased body weight, Polyphagia OMIM:300804
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Mehmo Syndrome
Obesity, Diabetes mellitus, Agitation ORPHA:85282
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ... ORPHA:2088
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... ORPHA:209902
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglycer... OMIM:615812
Rett Syndrome
Failure to thrive, Increased serum leptin, Bruxism, Cholecystitis, Hyperammonemia, Stereotypical ... ORPHA:778
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Increa... ORPHA:280365
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Dysbetalipoproteinemia
Acute pancreatitis, Decreased HDL cholesterol concentration, Obesity, Xanthelasma, Increased LDL ... ORPHA:412
Intellectual Developmental Disorder, X-Linked 91
Low posterior hairline, Obesity OMIM:300577
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Head-banging, Abnormality of the thyroid gland, Onychotilloma... OMIM:182290
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia OMIM:610006
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... OMIM:608612
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Diabetes insipidus, Diabetes mellitus, Abnormal autonomic nervous system physiology OMIM:598500
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Hypopigmentation of hair ORPHA:411515
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, A... ORPHA:73272
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue ORPHA:199276
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertensi... ORPHA:79319
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Undifferentiated Pleomorphic Sarcoma
Weight loss, Fever, Anorexia ORPHA:2023
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... OMIM:616516
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Failure to thrive, Truncal obesity, Sparse body hair ORPHA:261483
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology, Impulsivity ORPHA:101046
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Epilepsy, Familial Focal, With Variable Foci 4
Attention deficit hyperactivity disorder, Abnormal autonomic nervous system physiology OMIM:617935
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Beta-Propeller Protein-Associated Neurodegeneration
Aggressive behavior, Optic atrophy, Abnormal autonomic nervous system physiology ORPHA:329284
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Familial Chylomicronemia Syndrome
Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... ORPHA:444490
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Elev... ORPHA:94086
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... ORPHA:399
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Polyphagia, Skin-picking, Camptodactyly, Fle... OMIM:615547
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatic steatosis, Pr... ORPHA:300536
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow ORPHA:171829
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypocalcemia, Polyphagi... OMIM:606407
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long c... OMIM:264470
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Malignant hyperthermia, Horizontal eyebrow, Congenital hypothyroidism, Obesity, Synophrys ORPHA:352530
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi... ORPHA:3191
Kleine-Levin Syndrome
Polydipsia, Fever, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive beh... ORPHA:33543
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Precocious puberty, Hirsutism OMIM:604931
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased HDL choles... OMIM:607616
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:248370
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Elevate... OMIM:212140
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... ORPHA:42
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Hepatic steatosis, Attention deficit hyperactivity disorder, Multiple lipomas,... ORPHA:210548
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Atypical Rett Syndrome
Restrictive behavior, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Tongue thrust... ORPHA:3095
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Failure to thrive, Hypoglycemia OMIM:245400
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Abdominal obesity, Prolonged neonatal jaundice, Neonatal hypoglycemia, Anterior ... ORPHA:631
Caribbean Parkinsonism
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:97355
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi... OMIM:602579
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Aganglionic megacolon, Abnormal autonomic nervous system... OMIM:613870
Attrv30M Amyloidosis
Weight loss, Abnormal autonomic nervous system physiology ORPHA:85447
Beta-Ketothiolase Deficiency
Fever, Hypoglycemia, Hyperglycemia, Oral aversion, Weight loss, Anorexia, Agitation ORPHA:134
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Obesity, Overweight, Bulimia OMIM:614651
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Type II diabetes mellitus, Eunuchoid habitus, Hepatic ... ORPHA:91
Autoinflammatory-Pancytopenia Syndrome
Type I diabetes mellitus, Fever, Failure to thrive, Recurrent fever, Lipodystrophy OMIM:619858
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, ... OMIM:261680
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Low posterior hairline, Sparse facial hair, Absent facial hair, Abnormality of the hypot... ORPHA:2183
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterolemia, A... ORPHA:77296
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Glucose intolerance, Br... ORPHA:785
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Agang... ORPHA:95427
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... OMIM:606721
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepato... OMIM:619013
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Hyperglycemia, Inguinal hernia, Hirsutism, Campt... OMIM:175700
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, ... OMIM:214150
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Thick eyebrow, Compulsive behaviors ORPHA:444002
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia, Fever, Diabetes insipidus ORPHA:30925
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Long eyelashes, Obesity, Thick eyebrow, Lipoma, Synophrys ORPHA:480907
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive ORPHA:2089
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec... OMIM:203800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Premature adrenarche, Elevated circulating hepatic transaminase concentr... ORPHA:293987
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism, Obesity ORPHA:88643
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul... ORPHA:90674
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hepatic steatosis OMIM:615996
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Angelman Syndrome Due To A Point Mutation
Heat intolerance, Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapp... ORPHA:411511
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Abnormal autonomic nervous system physiology OMIM:615548
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair, Hypogonadism, Obesity, Abnormality of the thyroid gland, Type II diabetes melli... ORPHA:2234
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Umbilical hernia, Hypopituitarism, Decreased circulati... ORPHA:226307
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... OMIM:614450
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98855
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ... OMIM:300942
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Increased bod... ORPHA:890
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of peripheral nerve conduction, Hyperactivity, Abnormal autonomic nerv... ORPHA:35069
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Low posterior hairline, Obesity, Abnormal hair quantity, Hypogonadism ORPHA:2233
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Hepat... OMIM:615630
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... OMIM:615830
N-Acetylglutamate Synthase Deficiency
Aggressive behavior, Hypothermia, Failure to thrive, Anorexia OMIM:237310
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
Primary Erythromelalgia
Hypothermia ORPHA:90026
Progressive Nodular Histiocytosis
Cachexia, Fever ORPHA:158022
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Rafiq Syndrome
Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Obesity, Broad eyebrow, Aggressive... OMIM:614202
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Elbow flexion contracture, Obesity, Hypothermia, Hip contracture, Abnormality of temperatu... OMIM:618493
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function OMIM:601466
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Myxopapillary Ependymoma
Autonomic bladder dysfunction ORPHA:251643
Chung-Jansen Syndrome
Obesity, Thick eyebrow, Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivit... OMIM:617991
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Class III obesity, Decreased HDL cholesterol concent... OMIM:176270
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:90673
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Polydipsia, Insulin-resistant... ORPHA:769
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Failure to thrive, Graves di... ORPHA:525731
Multiple System Atrophy, Cerebellar Type
Neuromuscular dysphagia, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic ... ORPHA:227510
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Temperature instability, Cen... ORPHA:398069
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... ORPHA:3163
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... OMIM:300635
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... ORPHA:96184
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, In... OMIM:300869
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology ORPHA:139578
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Dec... OMIM:617093
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia... ORPHA:98853
48,Xxyy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal her... ORPHA:10
Fatal Familial Insomnia
Weight loss, Dysphagia, Abnormal autonomic nervous system physiology OMIM:600072
Wild Type Attr Amyloidosis
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Weight loss,... ORPHA:330001
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... ORPHA:398079
Meningococcal Meningitis
Fever, Increased circulating procalcitonin concentration, Hypothermia, Anorexia ORPHA:33475
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Decreased motor nerve conduction velocit... ORPHA:298
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Dysphagia, Failure to thrive, Decreased liver function ORPHA:70472
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Obesity, Hypocalcemia, Pseudoh... OMIM:603233
Porphyria Variegata
Elevated circulating hepatic transaminase concentration, Abnormality of the liver, Abnormal circu... ORPHA:79473
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Al Amyloidosis
Hypoalbuminemia, Postural hypotension with compensatory tachycardia, Abnormality of the liver, We... ORPHA:85443
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulat... OMIM:618805
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Abnormal autonomic nervous system physiology, Inguinal hernia, Joint contracture OMIM:614498
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Wolman Disease
Adrenal calcification, Fever, Failure to thrive OMIM:620151
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Congenital hypothyroidism, Obesity, Hyperactivity, Red hair, Diabetes mellitus OMIM:614613
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Fever, Weight loss, Anorexia, Diabetes insipidus ORPHA:178029
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Arthrogryposis multiplex congenita, Abnormal autonomic nervous system phys... OMIM:243180
Smith-Magenis Syndrome
Self-injurious behavior, Precocious puberty, Failure to thrive in infancy, Obesity, Attention def... ORPHA:819
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Precocious puberty, Obesity, Hyperlipidemia, Hepatic steatosis, Hypothyr... ORPHA:254346
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick eyebrow, Low posterior hairline, Thick hair, Truncal obesity, Synophrys ORPHA:2429
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Luscan-Lumish Syndrome
High anterior hairline, Obesity, Hirsutism, Overgrowth, Polyphagia, Aggressive behavior OMIM:616831
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Tetanus
Autonomic bladder dysfunction, Dysphagia, Abnormal autonomic nervous system physiology, Elevated ... ORPHA:3299
Monosomy 13Q34
Insulin resistance, Obesity, Hypercalcemia, Hepatic steatosis ORPHA:96168
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... OMIM:600649
Variant Abeta2M Amyloidosis
Abnormal autonomic nervous system physiology, Hepatic amyloidosis ORPHA:314652
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Obesity, Stereotypical hand wringing, Skin-pickin... OMIM:600430
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Timothy Syndrome
Hypothyroidism, Hypothermia, Hypoglycemia OMIM:601005
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology OMIM:618049
Narcolepsy Type 1
Precocious puberty, Obesity, Restless legs, Attention deficit hyperactivity disorder, Restlessness ORPHA:2073
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Thick eyebrow, Truncal obesity ORPHA:3459
Laron Syndrome
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Parkinson Disease 4, Autosomal Dominant
Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Lipodys... OMIM:617591
Microtriplication 11Q24.1
Bruxism, Obesity, Hyperlipidemia ORPHA:289522
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip... OMIM:232400
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Temperature instability, Small for gestational age ORPHA:391673
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Whipple Disease
Insulin resistance, Polydipsia, Splenomegaly, Hyponatremia, Cachexia, Hypothyroidism, Anorexia, H... ORPHA:3452
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Aggressive behavior, Hyperactivity, Anorexia ORPHA:3077
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Hashimoto thyroiditis, Hyponatremia, Hypothyroidism, Abnormal autonomic nervous system ph... ORPHA:83601
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Increased blood urea nit... ORPHA:251004
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Obesity, Hypoketotic hypoglycemia, Hypothermia, Overweight, Small for gestational age ORPHA:26793
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... OMIM:614300
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Large for gestational age, Aggressive behavior, Agitation, Synophrys OMIM:616116
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu... OMIM:219090
Pancreatic And Cerebellar Agenesis
Failure to thrive, Hypoglycemia, Hyperglycemia, Reduced subcutaneous adipose tissue, Flexion cont... OMIM:609069
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Man1B1-Cdg
Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Truncal obesity, Lon... ORPHA:397941
Craniopharyngioma
Optic atrophy, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obes... ORPHA:54595
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Generalized hirsutism, Polyphagia, Paroxysmal bur... ORPHA:228402
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... OMIM:615438
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity, Synophrys OMIM:613192
Trisomy 5P
Obesity ORPHA:1742
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity OMIM:301013
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:228305
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,... OMIM:610717
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Multiple System Atrophy
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... ORPHA:102
Clark-Baraitser Syndrome
Aggressive behavior, Obesity, Hyperactivity OMIM:617752
Werner Syndrome
Insulin resistance, Chondrocalcinosis, Hypogonadism, Slender build, Thyroid carcinoma, Type II di... ORPHA:902
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Failur... OMIM:619418
Wolfram Syndrome
Optic atrophy, Male hypogonadism, Polydipsia, Abnormal mesentery morphology, Hypogonadism, Delaye... ORPHA:3463
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Multicentric Reticulohistiocytosis
Cachexia, Fever ORPHA:139436
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Biliary tract abnormality, Aganglion... OMIM:209900
Retinitis Pigmentosa
Optic atrophy, Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Optic disc pallor ORPHA:791
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Heat intolerance, Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapp... ORPHA:98794
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Orthostatic hypotension, Abnormal autonomic nervo... ORPHA:441
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:99901
Polycystic Ovary Syndrome 1
Obesity, Hirsutism OMIM:184700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Alexander Disease
Self-injurious behavior, Precocious puberty, Failure to thrive, Hypothyroidism, Abnormal autonomi... ORPHA:58
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Autonomic bladder dysfunction, Hypogonadotropic hypogonadism, Delayed puberty, Dys... ORPHA:447896
Multiple System Atrophy, Parkinsonian Type
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... ORPHA:98933
Tangier Disease
Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Elevated circulating apol... OMIM:205400
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Overfriendliness, Hypertriglyceridemia OMIM:618010
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Corneal scarring, Self-mutilation, Hyperactiv... OMIM:256800
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Thick eyebrow, Reduced subcutaneous adipose tissue, Agitation, Decreased b... OMIM:270450
Angelman Syndrome
Self-injurious behavior, Optic atrophy, Precocious puberty in females, Delayed menarche, Obesity,... ORPHA:72
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Abnormal autonomic nervous system physiology ORPHA:163921
Foxp1 Syndrome
Decreased circulating iron concentration, Failure to thrive, Attention deficit hyperactivity diso... ORPHA:391372
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Inguinal hernia, Hypothyroidism, Tr... OMIM:616541
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis OMIM:615918
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia ORPHA:230
Bardet-Biedl Syndrome 21
Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating... OMIM:231550
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con... OMIM:615947
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Hypogonadotropic hypogonadism, Weight ... ORPHA:465508
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperlipidemia, Delayed puberty, Calcinosis ORPHA:90154
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Failure to thrive, Tall stature, Hepatic steatosis, Inguinal hernia, Pancreat... OMIM:236200
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... OMIM:261750
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Alexander Disease Type Ii
Dysphagia, Abnormal autonomic nervous system physiology ORPHA:363722
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Camptodactyly of finger ORPHA:2928
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Pica, Overweight, Recurrent hand flapping OMIM:615032
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Haddad Syndrome
Aganglionic megacolon, Small for gestational age, Failure to thrive, Abnormal autonomic nervous s... ORPHA:99803
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Fever, Hypoglycemia, Recurrent fever, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol ... OMIM:201910
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Bruxism, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Agitation OMIM:617903
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Gaisböck Syndrome
Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinem... ORPHA:90041
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... OMIM:169500
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Acute hepa... OMIM:256810
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:620603
Retinal Dystrophy And Obesity
Obesity, Peripapillary atrophy OMIM:616188
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... OMIM:618363
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... ORPHA:369840
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... OMIM:201450
Baralle-Macken Syndrome
Obesity, Hirsutism OMIM:619255
Dpm1-Cdg
Hepatic fibrosis, Optic atrophy, Elevated circulating hepatic transaminase concentration, Failure... ORPHA:79322
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Septo-... ORPHA:3157
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Menkes Disease
Alopecia, Sparse hair, Hypothermia, Brittle hair OMIM:309400
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Facial hirsutism, Obesity, Thick eyebrow, Hirsutism, Inc... ORPHA:247768
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hyperactivity ORPHA:397973
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Recurrent hypoglycemia, Hypothermia, Weight loss, Nonketotic hypoglycemia, Anorexia ORPHA:20
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Aganglionic megacolon, Obesity, Hyperuricemia ORPHA:261222
Neurodegeneration With Brain Iron Accumulation 5
Aggressive behavior, Abnormal autonomic nervous system physiology OMIM:300894
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... ORPHA:158057
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... OMIM:618160
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringi... ORPHA:163681
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Reni Syndrome
Hypoalbuminemia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Hypothyroidism, Hypertriglyce... OMIM:617575
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Self-mutilation, Hyperactivity, Camp... ORPHA:412035
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Chondrocalcinosis, Polydipsia, Fai... ORPHA:358