Gene Summary

Name:
chondroitin sulfate proteoglycan 4
Synonyms:
NG2,  AN2,  4732461B14Rik,  Cspg4a

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
Aorta  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 50% (1 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 0.0% (0 of 2)
Prostate gland  Wholemount images heterozygote Not available
Skin  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote Ambiguous
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote Not available
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 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)
Cecum 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 Not available
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)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver 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)
Parathyroid gland 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)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord 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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus 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)
cecum 3.23% (12 of 371)
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)
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens 3.93% (15 of 382)
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 Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Cspg4 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 Cspg4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, H... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Insulin resistance, Hypercholesterolemia, Obesity, Hypertriglyceridemia, Incre... OMIM:615703
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly, Insulin resistance ORPHA:2398
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepat... OMIM:232700
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Abnormal circulating lipid ... OMIM:615980
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Hypertriglyceridemia, Childhood-onset trunca... ORPHA:71529
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Hepatic steatosis, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mel... OMIM:613877
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hepatic steatosis, Insulin resistance, Loss of gluteal subcutaneous adipose tissue... OMIM:604367
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Hypercholesterolemia, Truncal obesity, Failure to thrive, Diabe... ORPHA:181393
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypercholesterolemia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglycerid... OMIM:306000
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Loss of gluteal subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Re... ORPHA:280356
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Lipoatrophy, Hepatomegaly, Diabetes mell... ORPHA:79084
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity ORPHA:140941
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Congenital Generalized Lipodystrophy
Lipodystrophy, Hepatic steatosis, Increased C-peptide level, Insulin resistance, Hyperinsulinemia... ORPHA:528
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Temple Syndrome
Flexion contracture, Small for gestational age, Hypercholesterolemia, Overweight, Truncal obesity... OMIM:616222
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Hepatomegaly, Insulin-resis... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Loss of gluteal subcutaneou... ORPHA:435660
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating selenium concentration, Fasting hypoglycemia, Obesity, Abnormal circulating ... ORPHA:171706
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Hypercholesterolemia, Los... OMIM:151660
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hypoglycemia, Hepatic failure, Portal hypertension, Periportal fibrosis, Splen... OMIM:251880
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Increased adipose tissue, Failure ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Cholestasis, Obesity, Increased adipose tissue, Failure ... ORPHA:71526
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hepatomegaly, Diabetes... OMIM:615381
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Hypercholest... ORPHA:2457
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Acute pancreatitis, Loss of gluteal subcutaneous adipose tissue, Increased subcuta... OMIM:608600
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Hypercholes... ORPHA:69663
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, He... ORPHA:435651
Riboflavin Deficiency
Hypothermia, Hypoglycemia, Elevated circulating acylcarnitine concentration OMIM:615026
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Maternal diabetes, Splenomegaly, Lipoatrophy, Hepatomegaly... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Hepatic steatosis, Insulin resistance, Splenomegaly, Lipoatrophy, Hepa... ORPHA:2348
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hep... OMIM:610717
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Decreased circulating ceruloplasmin co... OMIM:616828
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypermethioninemia, Elevated plasma citrulline, Intrahepatic cholestasis, F... OMIM:605814
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide level, Hepatomegaly,... OMIM:615238
Immunodeficiency 61
Obesity, Recurrent fever, Agammaglobulinemia OMIM:300310
Primary Lipodystrophy
Lipodystrophy, Hepatic steatosis, Hyperlipidemia, Insulin resistance, Splenomegaly, Lipoatrophy, ... ORPHA:90970
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:245400
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Umbilical hernia, Prolonged neonatal jaundice, Hypothermia ORPHA:95717
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia ORPHA:254531
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Cholestasis, Jaundice, Failure t... OMIM:617156
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619048
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Obesity, Joint contracture of the hand OMIM:264010
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Elevated circulating acylcarnitine co... ORPHA:26792
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus ORPHA:436182
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Obesity, Cholesterol gallstones, Acute hepa... ORPHA:209902
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Insulin resistance, Hyperinsulinemia, Sple... OMIM:613327
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemi... OMIM:614480
Lysosomal Acid Lipase Deficiency
Hepatic failure, Hypersplenism, Decreased HDL cholesterol concentration, Periportal fibrosis, Inc... OMIM:278000
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Elevated transferrin saturation,... OMIM:606069
Acquired Generalized Lipodystrophy
Hepatic steatosis, Acute pancreatitis, Insulin resistance, Hyperinsulinemia, Abnormal circulating... ORPHA:79086
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Familial Multiple Lipomatosis
Lipodystrophy, Hyperlipidemia, Insulin resistance, Increased adipose tissue, Overgrowth ORPHA:199276
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Umbilical hernia, Prolonged neonatal jaundice, Hypothermia ORPHA:226313
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hepatosplenomegaly, Small for gestational age, Hypercholesterole... ORPHA:79237
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Hepatomegaly, Overweight, Jaun... ORPHA:26793
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Fasting hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration... ORPHA:159
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypoglycemia, Decreased plas... OMIM:212140
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia... ORPHA:75234
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Insulin-Resistance Syndrome Type B
Glycosuria, Biliary cirrhosis, Postprandial hyperglycemia, Abnormal oral glucose tolerance, Fasti... ORPHA:2298
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity ORPHA:633
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Decreased circulating free fatty acid level, Inc... ORPHA:324575
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hypercholesterolemia, Obesity, Hepatomegaly, Xanthelasma, ... ORPHA:412
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Hepatic steatosis, Insulin resistance, Increased facial ... ORPHA:280365
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Hypercholesterolemia, Obesity, Truncal obesity, Maturity-onset diabete... ORPHA:96184
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hypoglycemia, Hepatomegaly, Failure to thrive OMIM:617872
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus OMIM:144800
Halothane Hepatitis
Viral hepatitis, Obesity, Fever, Jaundice, Hepatitis OMIM:234350
Morgagni-Stewart-Morel Syndrome
Obesity, Hypercholesterolemia, Diabetes mellitus, Hyperuricemia ORPHA:77296
Mody
Large for gestational age, Glycosuria, Exocrine pancreatic insufficiency, Neonatal hypoglycemia, ... ORPHA:552
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal circulating ... ORPHA:95716
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Bile duct proliferation, Decreased liver function, Failure to thrive, Elevated hepa... OMIM:618329
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Hypoglycemia, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenom... ORPHA:264580
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Inguinal hernia, Biliary tract abnormality, Ty... ORPHA:3191
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Failure to thrive, ... OMIM:614300
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Hyperlipidemia, Dorsocervical fat pad, Abnormal subcutaneous fat tissue distri... ORPHA:189439
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Fasting hypoglycemia, Cholestasis, Hypercholesterolemia, Splenomegaly, Hepatom... ORPHA:370
Permanent Congenital Hypothyroidism
Umbilical hernia, Jaundice, Hypothermia ORPHA:226292
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Decreased plasma total carnitine, Hypoglycemia, Decreas... ORPHA:42
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Obesity, Hyperbilirubinemia, Cholestasis OMIM:609734
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Splenom... ORPHA:79240
Ddost-Cdg
Lipodystrophy, Failure to thrive, Elevated hepatic transaminase, Hepatic steatosis ORPHA:300536
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Retinitis Pigmentosa
Type II diabetes mellitus, Obesity, Atypical scarring of skin, Hyperinsulinemia ORPHA:791
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Failure to thrive, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia... ORPHA:90674
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619386
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity, Fever, Hip contracture, Elbow flexion contracture, Abnormality of temperature regulation... OMIM:618493
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Decreased liver function, Elevated hepatic transaminase, Hepatic steatosis OMIM:617093
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level... ORPHA:276580
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Hyperlipidemia, Dorsocervical fat pad, Paradoxical increased cortisol secretio... ORPHA:189427
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Increased serum bile aci... OMIM:619662
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Fasting hypoglycemia, Inc... ORPHA:276575
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Nonketotic hypoglycemia, Recurrent hypoglycemia, Lipid accumulation in hepato... ORPHA:20
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Failure to thrive, ... ORPHA:73272
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Keloids, Obesity, Hyperinsulinemia ORPHA:3085
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:608594
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Obesity, Truncal obesity, Inguinal hernia, Hip contracture OMIM:618363
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
Obesity OMIM:614947
Immunodeficiency 47
Exocrine pancreatic insufficiency, Cholestasis, Accessory spleen, Decreased circulating total IgG... OMIM:300972
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Short Syndrome
Lipodystrophy, Insulin resistance, Inguinal hernia, Abnormal dental enamel morphology, Diabetes m... ORPHA:3163
Cog4-Cdg
Hepatosplenomegaly, Failure to thrive in infancy, Hypercholesterolemia, Fatal liver failure in in... ORPHA:263501
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hepatic steatosis, Fasting hypoglycemia, Hypoglycemia, Hepatic failure, Impaired glucon... OMIM:261680
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Cholestasis, Hyperbilirubinemia, Hyperammonemia, Decreased HDL chol... ORPHA:247598
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hepatic steatosis, Acute pancreatitis, Hyperinsulinemia, Reduced intraabdominal ad... OMIM:269700
Mehmo Syndrome
Obesity, Hypoglycemia, Small for gestational age OMIM:300148
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Summitt Syndrome
Obesity OMIM:272350
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Decreased circulating antibo... OMIM:301045
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Increased C-peptide level... ORPHA:276556
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Primary Erythromelalgia
Hypothermia ORPHA:90026
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Hyperbilirubinem... OMIM:613070
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Corneal scarrin... ORPHA:101330
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Primary hypercortisolism, Diabetes mellitus, Increased body weight, Increa... OMIM:615830
Smith-Magenis Syndrome
Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Increased C-peptide level, Neonatal hypoglycemia, Hepatic steatosis, Decre... ORPHA:71212
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Increased total bilirubin, Increased body ... ORPHA:890
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase c... OMIM:255120
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Laurence-Moon Syndrome
Obesity, Congenital hepatic fibrosis, Type II diabetes mellitus ORPHA:2377
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Fryns Macrocephaly
Knee flexion contracture, Truncal obesity OMIM:600302
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia, Insulin resistance, Obesity, Eunuchoid habitus, Type II diabet... ORPHA:91
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic steatosis, Flexion contracture, Decreased circulating Ig... OMIM:212065
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated plasma c... OMIM:603471
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Hepatomegaly, Acute hepatic failure, Failure to t... OMIM:256810
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Insulin resistance, Small for gestational age, Hypercholesterolemia, Recurrent pan... OMIM:606721
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Decreased body weight, Hyperlipidemia, Recurrent... ORPHA:444490
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Fever, Hepatitis, Hypoalbuminemia, Hyperammonemia, Hypothermia ORPHA:292
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly, Glucose intolerance, Hepatic f... OMIM:615630
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Failur... ORPHA:905
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hype... ORPHA:66628
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Cholelithiasis, Small for gestational age, Hy... OMIM:618775
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsuline... ORPHA:263455
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Umbilical hernia, Prolonged neonatal jaundice, Hypothe... ORPHA:226316
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Elevated circulating creatinine concentration, Hyperinsulinemia, Insulin resistance... ORPHA:230
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, ... OMIM:618620
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Hyperinsulinemia, Obesity, Insulin-resistant diabetes mellitus, Hype... ORPHA:179494
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Monosomy 13Q34
Infantile hypercalcemia, Obesity, Insulin resistance, Hepatic steatosis ORPHA:96168
Growth Factors, Combined Defect Of
Lipodystrophy, Flexion contracture, Reduced subcutaneous adipose tissue, Insulin-resistant diabet... OMIM:233805
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Prolonged neonatal jaundice, Neonatal hyperbilirubinem... ORPHA:90673
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Elevated hepatic t... ORPHA:71
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Conjugated hyperbilirubinemia, Abnormal serum bi... ORPHA:79303
Seckel Syndrome 10
Glycosuria, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Acute... OMIM:617253
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Hepatic steatosis, Tall stature, Hypermethioninemia, Inguinal hernia, Failur... OMIM:236200
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Hyperlipidemia, Portal hypertension, Small fo... ORPHA:567983
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Alstrom Syndrome
Hepatic steatosis, Hyperinsulinemia, Hepatomegaly, Hyperuricemia, Truncal obesity, Insulin-resist... OMIM:203800
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Hypoglycemia, Flexion contracture, Methylmalonic acidemia, Hepatomegaly, Failu... ORPHA:17
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98853
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy ORPHA:90154
Placental Insufficiency
Hypoxemia, Insulin resistance, Small for gestational age ORPHA:439167
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kin... ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:614582
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia, Obesity, Small for gestational age ORPHA:254516
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, Inguinal hernia, D... OMIM:616541
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Fever, Hypothermia ORPHA:33475
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Peritonitis, Fever, Hypoalbuminem... ORPHA:567548
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Nephronophthisis 15
Hepatic failure, Obesity OMIM:614845
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Malignant hyperthermia ORPHA:352530
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Hyperphosphatemia, Elevated hepatic transaminase, Increase... ORPHA:94086
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Elevated circulating acylca... ORPHA:228305
Central Precocious Puberty
Obesity, Increased body weight, Overgrowth ORPHA:759
Morm Syndrome
Truncal obesity ORPHA:75858
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Hemochromatosis Type 4
Cirrhosis, Increased circulating ferritin concentration, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Congenital Hypothyroidism
Umbilical hernia, Prolonged neonatal jaundice, Hypothermia ORPHA:442
Trisomy 5P
Obesity ORPHA:1742
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Failure to thrive, Elevated hepatic trans... OMIM:615438
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Neonatal hypoglycemia, In... ORPHA:79644
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity OMIM:617119
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Whipple Disease
Hyponatremia, Insulin resistance, Splenomegaly, Fever, Hepatomegaly, Cachexia ORPHA:3452
48,Xxyy Syndrome
Obesity, Inguinal hernia, Abnormal dental enamel morphology, Type II diabetes mellitus, Tall stature ORPHA:10
Rafiq Syndrome
Obesity, Flexion contracture, Truncal obesity OMIM:614202
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Hyperlipidemia, Hyponatremia, Obesity, Fever, Elevated hepatic transaminase, Hyperglyce... ORPHA:293987
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Acyl-Coa Dehydrogenase 9 Deficiency
Hepatic steatosis, Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dec... ORPHA:99901
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Obesity, Reactive hypoglycemia OMIM:600955
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypoglycemia, Methylmalonic acidemia, Jaundice, Elevated circulating palmito... ORPHA:79282
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Knee flexion contracture, Elevated circulati... ORPHA:79322
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Diabetes mellitus OMIM:610628
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Flexion contracture, Hepatomegaly, Failure to thrive, Diabetes mellitus, Pancr... OMIM:616263
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosis, Decreased plasma carnitine, Hepa... OMIM:201475
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Decreased liver function, Hepatic steatosis ORPHA:70472
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid droplets, Failure ... OMIM:220111
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Obesity, Hyperlipidemia, Arthrogryposis multiplex congenita ORPHA:254346
Bardet-Biedl Syndrome 1
Insulin resistance, Obesity, Truncal obesity, Diabetes mellitus, Biliary tract abnormality, Abdom... OMIM:209900
Gaisböck Syndrome
Increased circulating renin level, Hypercholesterolemia, Cholecystitis, Obesity, Overweight, Hype... ORPHA:90041
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoglycemia, Decreased plasma total carnitine, Elevated circulating creatinine concentration, No... OMIM:608836
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body weight, Increased body mass index OMIM:614450
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase, Hypoalbuminemia, Hypertrigl... OMIM:619013
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Type II diabetes mellitus, Eunuchoid habitus ORPHA:2234
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Fasting hypoglycemia, Increased C-peptide level, Insulin resi... ORPHA:769
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoketotic hypoglycemia, Eleva... OMIM:600649
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hypoglycemia, Decreased plasma carnitine, Hepatomegaly, Elevated hepatic trans... OMIM:201450
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Insulin resistance, Small for g... ORPHA:125
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Obesity, Hyperalaninemia, Achilles tendon con... OMIM:615418
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Obesity, Splenomegaly, Hepatomegaly OMIM:605309
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Decreased adipose tissue around neck, Loss... OMIM:608612
Bardet-Biedl Syndrome 21
Obesity, Elevated hepatic transaminase, Overweight OMIM:617406
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Multiple joint contractures, Small for gestational age, Insulin-resistant diab... ORPHA:2959
Smith-Magenis Syndrome
Hypertriglyceridemia, Obesity, Failure to thrive in infancy, Hypercholesterolemia ORPHA:819
Insulin-Like Growth Factor I, Resistance To
Lipodystrophy, Decreased body weight, Reduced subcutaneous adipose tissue, Truncal obesity, Diabe... OMIM:270450
Clark-Baraitser Syndrome
Obesity OMIM:617752
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Menkes Disease
Hypoglycemia, Atypical scarring of skin, Hernia, Inguinal hernia, Chondrocalcinosis, Prolonged ne... ORPHA:565
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased body weight, Increased circulating cortisol level, Abdominal obesity OMIM:615954
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Fever, Hepatomegaly, Failure to thrive, Low plasma citrulline, Hyperalaninemia, ... ORPHA:255210
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia OMIM:612463
Leprechaunism
Hypokalemia, Decreased body weight, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, I... ORPHA:508
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:615486
Leptin Receptor Deficiency
Obesity, Diabetes mellitus OMIM:614963
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hyponatremia, Hepatosplenomegaly, Hepatic fibr... ORPHA:275761
Sitosterolemia 1
Abnormality of the liver, Impaired platelet aggregation, Hypercholesterolemia, Splenomegaly, Elev... OMIM:210250
Biemond Syndrome Type 2
Obesity ORPHA:141333
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Neonatal ... OMIM:619418
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Obesity, Arthrogryposis multiplex congenita, C... OMIM:615547
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Acute hyperammonemia OMIM:210200
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Recurrent hypoglycemia, Obesity, Cachexia ORPHA:813
Chung-Jansen Syndrome
Obesity OMIM:617991
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperlipidemia, Hyperinsulinemia, Increased facial adipose ti... OMIM:248370
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Obesity, Flexion contracture of toe, Increased circulating IgE level ORPHA:3409
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Overweight, Prolonged neonatal jaundice, Umbilical hernia, Hypothermia ORPHA:226307
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hepatic steatosis, Hyperalaninemia OMIM:615918
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Werner Syndrome
Lipodystrophy, Insulin resistance, Slender build, Lipoatrophy, Chondrocalcinosis, Type II diabete... ORPHA:902
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Mal... OMIM:614921
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus OMIM:614613
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Neuroleptic Malignant Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia, Fever, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Baralle-Macken Syndrome
Obesity OMIM:619255
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Carpenter Syndrome
Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Lysinuric Protein Intolerance
Hepatic failure, Pancreatitis, Hyperammonemia, Decreased HDL cholesterol concentration, Increased... ORPHA:470
Alexander Disease
Failure to thrive, Diabetes mellitus, Hypothermia ORPHA:58
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypoglycemia, Hyperlipidemia, Hepatic steatosis, Hypercholesterolemia, Inc... ORPHA:79259
13Q12.3 Microdeletion Syndrome
Camptodactyly, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:412035
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Neonatal hypoglycemia, Hypoglycemia, Hepatomegaly, Elevated circulating creati... OMIM:212138
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hypoglycemia, Neonatal hypoglycemia, Fasting hypoglycemia, Hepatomegaly, Hyper... ORPHA:348
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Mitochondrial Neurogastrointestinal Encephalomyopathy
Weight loss, Elevated hepatic transaminase, Cachexia, Cirrhosis, Macrovesicular hepatic steatosis... ORPHA:298
15Q24 Microdeletion Syndrome
Small for gestational age, Hernia, Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:94065
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Hyperlipidemia, Insulin resistance ORPHA:90153
Senior-Loken Syndrome 9
Obesity, Cholestasis, Hepatic fibrosis OMIM:616629
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Decreased serum zinc, Hepatosplenomegaly, Cholestasis, Elevat... ORPHA:541423
Ethylene Glycol Poisoning
Cyanosis, Hyperkalemia, Hypocalcemia, Hypothermia ORPHA:31826
Pseudohypoparathyroidism, Type Ic
Obesity, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:612462
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Orthostatic Hypotension 1
Neonatal hypoglycemia, Intermittent hypothermia OMIM:223360
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:607765
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Flexion contracture of digit, Reduced subcutaneous adipose tissue, Truncal obesity ORPHA:3041
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Bardet-Biedl Syndrome 20
Obesity, Pancreatitis, Elevated hepatic transaminase, Hypercholesterolemia OMIM:619471
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Hepatic steatosis, Hypoglycemia, Hepatic periportal necrosis, Jaundice, Hepatomegaly,... OMIM:231680
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Obesity, Flexion contracture OMIM:300055
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Increased circulating IgG level, Splenomegaly... ORPHA:2137
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity OMIM:268050
Gitelman Syndrome
Diabetic ketoacidosis, Hypokalemia, Type I diabetes mellitus, Insulin resistance, Hypocalcemia, C... ORPHA:358
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Wagr Syndrome
Obesity ORPHA:893
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hepatic necrosis, Hypoketotic hypoglycemia, Fulminant h... OMIM:231530
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Reactive hypoglycemia, Fasting... ORPHA:97279
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity, Abnormal dental enamel morphology ORPHA:2180
Marburg Hemorrhagic Fever
Hypokalemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Fever,... ORPHA:99826
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Obesity, Abdominal obesity, Glucose intolerance, Impaired glucose tolerance OMIM:219090
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Pseudohypoparathyroidism, Type Ia
Obesity, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:103580
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Decreased plasma total carnitine, Hyperlipidemia, Elevated ci... ORPHA:228308
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Hypothermia ORPHA:488632
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Acquired Aneurysmal Subarachnoid Hemorrhage
Hyperglycemia, Hypercholesterolemia ORPHA:90065
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Glycosuria, Hypoglycemia, Hepatomegaly, Hypouricemia, Diabetes mellitu... OMIM:616026
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Hepatomegaly, Fai... OMIM:619487
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Truncal obesity ORPHA:284180
Adult-Onset Autosomal Dominant Leukodystrophy
Flexion contracture, Temperature instability, Hypothermia ORPHA:99027
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
48,Xxxy Syndrome
Obesity, Inguinal hernia, Abnormal dental enamel morphology, Type II diabetes mellitus, Tall stature ORPHA:96263
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis ORPHA:52430
Atkin-Flaitz Syndrome
Obesity, Tall stature OMIM:300431
Occipital Horn Syndrome
Hiatus hernia, Keloids, Atypical scarring of skin, Cholestasis, Femoral hernia, Jaundice, Inguina... ORPHA:198
Abetalipoproteinemia
Hepatic steatosis, Hypotriglyceridemia, Hepatomegaly, Decreased HDL cholesterol concentration, Fa... ORPHA:14
Distal 16P11.2 Microdeletion Syndrome
Obesity, Hyperuricemia ORPHA:261222
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Hypoglycemia, Portal hypertension, Small for gestational age, Slender build, C... OMIM:613658
Fructose Intolerance, Hereditary
Glycosuria, Hepatic steatosis, Hypoglycemia, Bicarbonaturia, Hyperuricosuria, Hepatomegaly, Jaund... OMIM:229600
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Bdv Syndrome
Type II diabetes mellitus, Obesity, Hyperinsulinemia OMIM:619326
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Failure to thrive, Obesity OMIM:612938
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Joubert Syndrome 37
Obesity, Hepatomegaly OMIM:619185
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Hypokalemia, Increased serum bile acid concentration, Cholestas... OMIM:619377
Kennerknecht Syndrome
Omphalocele, Abdominal obesity OMIM:600908
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Obesity, Abnormal dental enamel morphology, Hypercalcemia ORPHA:251004
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Hypocalcemia, Hypoketotic hypoglycemia, Chronic hepati... ORPHA:746
Adrenomyodystrophy
Failure to thrive, Hepatic steatosis ORPHA:977
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Hyperbilirubinemia, Hypothermia OMIM:218700
Pearson Syndrome
Glycosuria, Exocrine pancreatic insufficiency, Hypokalemia, Hepatic failure, Hypoplastic spleen, ... ORPHA:699
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Pigmented Nodular Adrenocortical Disease, Primary, 2