Gene Summary

Name:
neuromedin U
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 585)
oral epithelium 0.0%
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

3 Images

Human diseases caused by Nmu 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 Nmu by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Polyphagia, Hyperinsulinemia, Hypertriglycer... ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:324575
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased... ORPHA:71526
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Polyphagia, Excessive insulin response to glucagon test, ... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Polyphagia, Exce... ORPHA:276580
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:608600
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Maternal diabetes, Loss of subcutaneous adipose tissue i... OMIM:604367
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized... OMIM:612526
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Hyperbi... OMIM:609734
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Obesity, Attention deficit hyperactivity disorder, Hyperinsulinemia ORPHA:369873
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Polyphagia, Tall stature OMIM:618406
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:66628
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia, Polyphagia ORPHA:329249
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovar... ORPHA:179494
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormal circulating ... ORPHA:71212
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adi... ORPHA:363400
Type 1 Diabetes Mellitus
Decreased level of 1,5 anhydroglucitol in serum, Polyphagia, Polydipsia, Hyperglycemia, Diabetes ... OMIM:222100
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior, Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Hyperinsulinemic hypoglycemia... ORPHA:97279
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Diabetes mel... OMIM:610717
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 level, Inappropriately normal thyroid-stimu... OMIM:301033
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystro... ORPHA:79085
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Lipoatrophy, Diabetes mellitus... ORPHA:79084
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, I... ORPHA:435660
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia, Hepatic... ORPHA:436182
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Leptin Receptor Deficiency
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Diabetes mellitus, Hypergonadotro... OMIM:614963
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Elevated hepatic transaminas... ORPHA:2089
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age OMIM:248100
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant dia... ORPHA:435651
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus OMIM:601410
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... ORPHA:528
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Temple Syndrome
Type II diabetes mellitus, Polyphagia, Small for gestational age, Recurrent hypoglycemia, Obesity... ORPHA:254516
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture OMIM:618856
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Abnormal circulating lipid concentration, Lipodystrophy, Hepatic steatosis, Hypertr... OMIM:615238
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:263455
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Tall stature, Umbilical hernia, Insulin-resistant diabetes mellitus at ... OMIM:608594
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Failure to thrive, Hype... ORPHA:79237
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Polyphagia, Large for gestational age OMIM:617119
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Failure to thrive, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentrati... ORPHA:26792
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Polyphagia, Tall stature, Umbilical hernia, Insulin-resistant diabetes mellitus at ... OMIM:269700
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstr... ORPHA:69663
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Asymptomatic hyperammonemia OMIM:606762
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Hypoproteinemia, Hepatomegaly, Hypoketotic hypoglycemia, Small for gestational age, Ele... ORPHA:26793
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Hypertriglyceridemia, Adrenal calcif... ORPHA:75234
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia, Hyperglycemia, Truncal obesity, Obesity OMIM:615986
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Polyphagia, Abnormal circulating cholesterol concentr... ORPHA:399
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypoglycemia, Failure to thrive, Hyperammonemia... OMIM:212140
Fanconi-Bickel Syndrome
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... ORPHA:2088
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, C... OMIM:606069
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Steatorrhea, Portal hyper... OMIM:278000
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive, Hypocalcemia, Neonatal hypoglycemia, Hypergonadotropic hypogonadis... OMIM:606407
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepat... OMIM:617872
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty ORPHA:254531
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concen... OMIM:619386
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... OMIM:246200
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Abnormal thyroid morphology, Elevated hepatic iron concentration,... ORPHA:139507
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... OMIM:617156
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Gait disturbance, Mildly elevated creatine kinase OMIM:618400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hypoglycemia, Failure to thrive, Hyperalaninemia, ... OMIM:619048
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Lethargy, Cholangiocarcinoma, ... ORPHA:465508
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Failure to thrive, Increased... OMIM:610600
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Insulin resistance, Lipodystrophy, Hypogonadism, Hepatic steatosis, Diabetes mellit... OMIM:615381
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Delayed... ORPHA:633
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Hyperglycemia, Failure to thrive, Increased hepat... OMIM:220111
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Hypercholesterolemia... ORPHA:209902
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... OMIM:606176
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid... ORPHA:79086
Graves Disease, Susceptibility To, 1
Polyphagia, Goiter, Weight loss, Hyperactivity, Graves disease OMIM:275000
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Bangstad Syndrome
Increased circulating cortisol level, Ataxia, Abnormality of the parathyroid gland, Type I diabet... ORPHA:1227
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... ORPHA:556037
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Inability to walk, Male hypogonadism, Difficulty walking... OMIM:300148
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Small for gestational age, Hyperglycemia, Glycosuria, Type I diabetes mellitus OMIM:618857
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Hypogonadism, Inabi... OMIM:615547
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypo... ORPHA:77296
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... ORPHA:556030
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Insulin resistance, Failure to thrive, Elevated circulating creatine kin... OMIM:613327
Perlman Syndrome
Hepatomegaly, Tall stature, Hyperinsulinemia, Abnormal pancreas morphology, Inguinal hernia, Femo... ORPHA:2849
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Failure to t... ORPHA:264580
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
6Q16 Microdeletion Syndrome
Obesity, Broad-based gait, Polyphagia ORPHA:171829
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Pa... ORPHA:2348
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepa... OMIM:602579
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:370
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... ORPHA:96184
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Goiter, Polyphagia, Polydipsia, Failure to thrive, ... ORPHA:525731
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity OMIM:618160
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Pancreatitis, Splen... ORPHA:90970
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Diabetes insipid... OMIM:203800
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulat... ORPHA:79240
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Chromosome Xq26.3 Duplication Syndrome
Overgrowth, Increased serum insulin-like growth factor 1, Polyphagia, Tall stature, Pituitary ade... OMIM:300942
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase... ORPHA:42
Secondary Short Bowel Syndrome
Central hypothyroidism, Polyphagia, Failure to thrive, Weight loss, Primary hypothyroidism, Steat... ORPHA:95427
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased liver... ORPHA:79319
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Pancreatitis, Hyp... OMIM:603471
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Hepatomegaly, Decreased HDL cholesterol concentration, Loss of s... ORPHA:280365
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Hypercholesterolemia, Cirrhosis, Elevate... OMIM:619662
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Short Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc... OMIM:269880
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Prema... ORPHA:398079
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Dystonia, Hypoglycemia, Elevated hepatic transami... OMIM:256810
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:98754
Carcinoma Of Esophagus
Weight loss, Dysphagia, Obesity ORPHA:70482
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Obesity OMIM:616756
Smith-Magenis Syndrome
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Incr... OMIM:182290
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:98793
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Hepatic steatosis, Cyanosis, Impaired gluconeog... OMIM:261680
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:618620
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:177904
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:177901
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Hepatocellular necrosis, Failure to thrive, Depletion of mitochondria... OMIM:251880
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Recurrent pancreatitis, Jaundice, Hepatic steatosis, Hepatospl... ORPHA:444490
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Cog4-Cdg
Failure to thrive in infancy, Fatal liver failure in infancy, Hypercholesterolemia, Cirrhosis, He... ORPHA:263501
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hyperglycemia, Joint contracture of the hand, Inguinal hernia, Camptodactyly of... OMIM:175700
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity, Type II diabetes mellitus, Ataxia ORPHA:2377
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia OMIM:208920
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Combined Oxidative Phosphorylation Deficiency 15
Unsteady gait, Obesity, Ataxia OMIM:614947
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Hepatic steatosis, Elevated hepatic transaminase, Decreased plasma ca... OMIM:201450
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypot... OMIM:619013
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Dysphagia, Dystonia, Diffuse hepatic steatosis, Elevated hepatic transaminase OMIM:264470
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Overweight ORPHA:401923
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... OMIM:609069
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Waddling gai... ORPHA:369840
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Small for gestational age, Fai... ORPHA:398073
Man1B1-Cdg
Truncal obesity, Broad-based gait, Polyphagia ORPHA:397941
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Polyphagia, Hypog... OMIM:176270
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Failure to thrive, Abnormal ci... ORPHA:90674
Narcolepsy Type 1
Obesity ORPHA:2073
Isolated Sedoheptulokinase Deficiency
Hepatitis, Arthrogryposis multiplex congenita, Cholestatic liver disease, Steatorrhea, Cholestasi... ORPHA:440713
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hyperglycemia, Weight loss, Hyperammonemia, Hyperuricemia, Ataxia, Or... ORPHA:134
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Hyperbilirubinemia, Decreased liver function, Hepatic steatos... OMIM:614300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:600649
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Absence of second... ORPHA:785
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hyponatremia, Polyphagia, Polydipsia, Hyperglycemia, Premature adrenarche... ORPHA:293987
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis... ORPHA:391673
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hyp... ORPHA:681
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Polyphagia, Failure to thrive, Premature a... ORPHA:739
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia, Hypothyroidism, Hypopituitarism ORPHA:90065
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Pick Disease Of Brain
Polyphagia OMIM:172700
Magel2-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Polyphagia, Failure to thrive, Absen... ORPHA:398069
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Hypera... OMIM:201475
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Abnormal circulating lipid concentration, Obesity, Biliary tract abnor... ORPHA:3191
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Polydipsia, Insulin resistance, Insulin... ORPHA:769
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Ataxia, Hypertriglyce... OMIM:277460
Frontotemporal Dementia
Polyphagia OMIM:600274
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Hypoketotic hypoglycemia, Elevated circulating cre... ORPHA:228305
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Polyphagia, Abnormal dental enamel morphology, Increased blood urea nitrogen, Obes... ORPHA:251004
Seckel Syndrome 10
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... OMIM:617253
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Small for gestational age, Abnormal circulating f... ORPHA:567983
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Dysphagia, Failure to thrive, Decreased liver function, Hepatic steatosis, Inability to walk, Ata... ORPHA:70472
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Polyphagia, Hypo... ORPHA:79444
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Elevated circulating... OMIM:618805
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Jau... ORPHA:247598
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Central Precocious Puberty
Overgrowth, Increased circulating gonadotropin level, Isosexual precocious puberty, Premature the... ORPHA:759
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Dysphagia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercho... ORPHA:64753
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia ORPHA:228402
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Dysmetria, Hepatic steatosis, Ataxia, Steatorr... OMIM:616263
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Hyperbilirubinemia, Absen... OMIM:615710
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Blue Diaper Syndrome
Hypercalcemia, Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyro... ORPHA:94086
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Obesity, Failure to thrive in infancy OMIM:613670
Porphyria Cutanea Tarda
Increased serum iron, Scarring, Elevated hepatic iron concentration, Portal inflammation, Corneal... ORPHA:101330
Pyruvate Carboxylase Deficiency
Hepatomegaly, Dystonia, Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, ... ORPHA:3008
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Tall stature, Insulin resistance, Eunuchoid habitus, H... ORPHA:91
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Obesity, ... OMIM:603233
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610489
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Polyphagia, H... ORPHA:54595
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... ORPHA:905
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... OMIM:301045
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98855
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosi... ORPHA:71
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Dorsocervica... OMIM:615830
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Failure to thrive, Neonatal hyperbil... ORPHA:73272
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Truncal obesity, Failure to thrive ORPHA:261483
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Angelman Syndrome
Precocious puberty in females, Dysphagia, Polyphagia, Hyperactivity, Inability to walk, Ataxia, B... ORPHA:72
Smith-Magenis Syndrome
Gait disturbance, Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceridemia, Hypot... ORPHA:819
Ddost-Cdg
Failure to thrive, Lipodystrophy, Hepatic steatosis, Primary hypothyroidism, Elevated hepatic tra... ORPHA:300536
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Polyphagia, Hypo... ORPHA:79443
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Dystonia, Failure to thrive, Bradykinesia, Macrovesicular hepatic steatosis, Choles... OMIM:614924
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Rett Syndrome
Gait disturbance, Dystonia, Failure to thrive, Bradykinesia, Hyperammonemia, Increased serum lept... ORPHA:778
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Failure to thrive, Acute hepatic steatosis, Acute hyperammonemia, Lethargy OMIM:210200
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia, N... OMIM:212138
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Arthrogryposis multiplex congenita, Hepatic steatosis, Hyperactivity, Hypothyroid... ORPHA:254346
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... OMIM:615630
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Ataxia, Waddling gait, Unsteady gait, Obesity, Difficulty walking, Puberty and gonadal ... ORPHA:464282
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Hypergonadotropic hypogonadism, Failure to thrive, Hypocholestero... OMIM:212065
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
X-Linked Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... ORPHA:98853
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Weight loss, Contractures of the joints ... ORPHA:99885
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin resistance, Fail... ORPHA:508
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Luscan-Lumish Syndrome
Obesity, Overgrowth, Polyphagia OMIM:616831
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Failure to thrive in infancy, Hepatomegaly, Hypoglycemia, Macro... OMIM:619418
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Obesity, Lipoma, Dystonia ORPHA:480907
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Unsteady gait, Obesity, Inability to walk, Ataxia OMIM:618443
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:444002
Acyl-Coa Dehydrogenase 9 Deficiency
Failure to thrive, Elevated circulating acylcarnitine concentration, Elevated creatine kinase aft... ORPHA:99901
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
48,Xxyy Syndrome
Type II diabetes mellitus, Tall stature, Abnormal dental enamel morphology, Ataxia, Hypergonadotr... ORPHA:10
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Gaisböck Syndrome
Hyperproteinemia, Cholecystitis, Obesity, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus,... ORPHA:90041
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:141333
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Small for gestational age, Elevated hepatic transaminase, Insuli... ORPHA:2959
Hemochromatosis Type 4
Congenital hepatic fibrosis, Increased circulating ferritin concentration, Cirrhosis, Hepatic ste... ORPHA:139491
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Jaundice, Hep... OMIM:238600
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Broad-b... OMIM:614450
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Truncal obesity, Amelogenesis imperfecta, Obesity, Inguinal hernia OMIM:618363
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Failure to thrive, Splenomegaly, H... OMIM:300972
Gangliocytoma
Abnormal prolactin level, Polyphagia, Abnormality of the pituitary gland, Pituitary prolactin cel... ORPHA:251937
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Hypoglycemia, Decreased serum insulin-like growth factor 1, Increased hepatic glyco... OMIM:614921
Summitt Syndrome
Obesity OMIM:272350
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Microvesicular hepatic steatosis, Hepatic fibrosis, Failure... ORPHA:275761
Atypical Werner Syndrome
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... ORPHA:79474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Failure to thrive... ORPHA:79259
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Spastic Paraplegia 11, Autosomal Recessive
Dysphagia, Spastic gait, Ataxia, Tip-toe gait, Obesity OMIM:604360
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hypoketotic hypoglycemia, H... ORPHA:228308
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... ORPHA:470
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Ataxia, Primary hypothyroidism, Dysphagia OMIM:249310
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypogly... OMIM:231530
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Obesity OMIM:618124
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Elevated circulating long c... OMIM:608836
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypog... ORPHA:453533
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepatic transam... ORPHA:14
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Spastic gait, Shuffling gait, Bradykinesia, Wrist flexion contracture, Ataxia, Male hyp... OMIM:300055
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Weight loss, Hypogonadotropic hypogonadism, Hyperalaninemia, Cirrhosis, Macr... ORPHA:298
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Hyperuricemia, Neo... ORPHA:348
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia OMIM:615538
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Failure to thrive, Hyperalaninemia, Hepatic steatosis, Elevated circulating alanine... OMIM:614582
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Polyphagia OMIM:156200
Woodhouse-Sakati Syndrome
Dystonia, Streak ovary, Hyperlipidemia, Insulin-resistant diabetes mellitus, Decreased serum estr... ORPHA:3464
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Enamel hypopla... OMIM:612462
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... ORPHA:2234
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Hepatic... ORPHA:98907
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating follicle stimulating hormone level, Failure to thrive, Absence of secondary ... ORPHA:90796
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty OMIM:604931
Adrenomyodystrophy
Hepatic steatosis, Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia, Diffuse hepatic steat... ORPHA:746
Baralle-Macken Syndrome
Dystonia, Obesity, Inability to walk OMIM:619255
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Diabetes mellitus,... ORPHA:541423
Sitosterolemia 1
Elevated circulating sitosterol concentration, Splenomegaly, Hypercholesterolemia, Abnormality of... OMIM:210250
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Polydipsia, Decreased circulating renin level, Failure t... ORPHA:320
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Hypogonadism, Abdominal obes... OMIM:300869
Infantile Liver Failure Syndrome 1
Hepatomegaly, Failure to thrive, Hepatic steatosis, Acute hepatic failure, Elevated hepatic trans... OMIM:615438
Neutral Lipid Storage Myopathy
Hepatomegaly, Pineal cyst, Abnormal circulating creatine kinase concentration, Hepatic steatosis,... ORPHA:98908
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Chung-Jansen Syndrome
Obesity, Attention deficit hyperactivity disorder OMIM:617991
Interstitial Lung And Liver Disease
Hypoxemia, Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperammonemia, Cirrhosis, Hepatic ... OMIM:615486
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Elevated circulating creatine kinase concentra... ORPHA:79322
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... ORPHA:230
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Abdominal obesit... OMIM:219090
Pearson Syndrome
Adrenal insufficiency, Hypophosphatemia, Splenomegaly, Steatorrhea, Diabetes mellitus, Hepatic st... ORPHA:699
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased total bilirubin, Elevated hepatic transaminase, Increased body weight, Ja... ORPHA:890
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Enamel hypopla... OMIM:103580
7Q11.23 Microduplication Syndrome
Polyphagia, Dysmetria, Congenital diaphragmatic hernia, Hyperactivity, Unsteady gait, Obesity, In... ORPHA:96121
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glycosuria, Hepatic steatosis, Elevated circulating glutaric acid con... OMIM:231680
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Weight loss,... ORPHA:79102
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Bardet-Biedl Syndrome 1
Gait imbalance, Hepatic fibrosis, Insulin resistance, Truncal obesity, Hypogonadism, Ataxia, Neph... OMIM:209900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Disproportionate tall stature, Elevated ... ORPHA:95699
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Increased circu... ORPHA:53693
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Rafiq Syndrome
Obesity, Ataxia, Flexion contracture, Truncal obesity OMIM:614202
Sheehan Syndrome
Hyponatremia, Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decr... ORPHA:91355
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Nephronophthisis 15
Obesity, Hepatic failure OMIM:614845
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Ataxia, Hypothyroidism ORPHA:2479
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Truncal obesity ORPHA:2429
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Obesity, Ataxia ORPHA:459033
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Disproportionate tall stature, Hyperhomocystinemia, Tall stature, Failure to thrive, Pancreatitis... OMIM:236200
Senior-Loken Syndrome 9
Hypogonadism, Obesity, Hepatic fibrosis, Cholestasis OMIM:616629
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Fructose Intolerance, Hereditary
Lethargy, Hepatomegaly, Hypoglycemia, Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Gl... OMIM:229600
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Hypocholesterolemia, Hyper... OMIM:607765
Fryns Macrocephaly
Knee flexion contracture, Truncal obesity OMIM:600302
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Obesity, Shuffling gait, Broad-based gait ORPHA:3077
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Dystonia, Hepatic fibrosis, Failure to thrive, Weight loss, Hepatic steatosis, Hepa... OMIM:619487
Trisomy 5P
Obesity ORPHA:1742
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Bardet-Biedl Syndrome 20
Pancreatitis, Hypercholesterolemia, Male hypogonadism, Elevated hepatic transaminase, Obesity OMIM:619471
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Lipodystrophy, Reduced subcutaneous adipose tissue,... OMIM:270450
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Polyphagia ORPHA:251028
Short Stature, Microcephaly, And Endocrine Dysfunction
Gait disturbance, Insulin resistance, Abnormal circulating lipid concentration, Dysmetria, Trunca... OMIM:616541
Monosomy 13Q34
Hepatic steatosis, Obesity, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Truncal obesity OMIM:268050
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis, Waddling gait ORPHA:52430
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Decreased circulating free T3, Thyroid hypoplasia, Abnormal circulating thyroglobulin l... ORPHA:99832
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Truncal obesity, Camptodactyly of finger ORPHA:2928
Perrault Syndrome 4