Gene Summary

Name:
centrosomal protein 19
Synonyms:
1500031L02Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal bone structure Cep19tm1b(EUCOMM)Hmgu HOM   Early adult 9.47×10-06
decreased prepulse inhibition Cep19tm1b(EUCOMM)Hmgu HOM Early adult 5.65×10-05
decreased total retina thickness Cep19tm1b(EUCOMM)Hmgu HOM Early adult 6.93×10-15
increased total body fat amount Cep19tm1b(EUCOMM)Hmgu HOM Early adult 5.61×10-23
preweaning lethality, incomplete penetrance Cep19tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased lean body mass Cep19tm1b(EUCOMM)Hmgu HOM Early adult 1.06×10-14
decreased bone mineral content Cep19tm1b(EUCOMM)Hmgu HOM Early adult 8.28×10-11
abnormal retinal outer nuclear layer morphology Cep19tm1b(EUCOMM)Hmgu HOM Early adult 2.65×10-26
decreased bone mineral density Cep19tm1b(EUCOMM)Hmgu HOM Early adult 4.20×10-11
abnormal coat appearance Cep19tm1b(EUCOMM)Hmgu HOM Early adult 1.65×10-06
decreased body length Cep19tm1b(EUCOMM)Hmgu HOM Early adult 9.92×10-06

Download data as:  TSV  XLS

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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
Brain  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 0.0% (0 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  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)
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 1)
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
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)
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)
Mesenteric lymph node 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)
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)
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)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach 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)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder 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)
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%
mesenteric lymph node 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%
urinary bladder 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.

Eye Morphology

VIP of left fundus

3 Images

Eye Morphology

VIP of left eye

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

VIP of right fundus

3 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

VIP of right eye

3 Images

Human diseases caused by Cep19 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cep19 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Bardet-Biedl Syndrome
Obesity ORPHA:110

The table below shows human diseases predicted to be associated to Cep19 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Increased waist to hip ratio, Insulin resistance OMIM:125853
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Elevated circulating creatine kinas... OMIM:615980
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Truncal obesity, Neonatal hypoglycemia, Large for gestational age, Abno... ORPHA:293964
Cortisone Reductase Deficiency 2
Obesity, Insulin resistance OMIM:614662
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resistance, Increased... OMIM:615703
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age OMIM:248100
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Insulin resistance OMIM:617885
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:608600
Lipase Deficiency, Combined
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Body Mass Index Quantitative Trait Locus 20
Obesity, Polyphagia, Tall stature OMIM:618406
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Failure to thrive, Truncal obesity, ... ORPHA:181393
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia OMIM:306000
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity ORPHA:71526
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Abnormal circulating selenium concentration, Fasting hypoglycemia, Abnormal circulating ... ORPHA:171706
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy... OMIM:612526
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age OMIM:601820
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age OMIM:617119
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Polyphagia ORPHA:329249
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age OMIM:256450
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus at puberty, Red... ORPHA:280356
Obesity Due To Sim1 Deficiency
Obesity, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Leptin Deficiency Or Dysfunction
Obesity, Abnormal eating behavior, Polyphagia OMIM:614962
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:144600
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concen... OMIM:604367
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance OMIM:612227
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus OMIM:144800
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Severe failure to thrive, Transient neonatal diabetes mellitus OMIM:601410
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Increased... ORPHA:79085
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance ORPHA:79084
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:618620
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin resistance, Insulin-resista... ORPHA:435660
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Polyphagia OMIM:609734
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Polyphagia ORPHA:177910
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia OMIM:619175
Carcinoma Of Esophagus
Weight loss, Dysphagia, Obesity ORPHA:70482
6Q16 Microdeletion Syndrome
Obesity, Broad-based gait, Polyphagia ORPHA:171829
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Leptin Receptor Deficiency
Obesity, Abnormal eating behavior, Polyphagia OMIM:614963
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Narcolepsy Type 1
Obesity ORPHA:2073
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Lipodystrophy, Hypertriglyceridemia OMIM:615238
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Congenital Generalized Lipodystrophy
Insulin resistance, Failure to thrive, Lipodystrophy, Adipose tissue loss, Hypercholesterolemia, ... ORPHA:528
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Hyperinsulinism Due To Hnf1A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestational age, Mat... ORPHA:324575
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Polyphagia, Large for gestational age ORPHA:276556
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Familial Multiple Lipomatosis
Increased adipose tissue, Overgrowth, Hyperlipidemia, Insulin resistance, Lipodystrophy ORPHA:199276
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... OMIM:606176
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Diabetes mellitus, Hypertriglyceridemia OMIM:610717
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Huntington Disease
Gait disturbance, Dystonia, Gait imbalance, Polyphagia, Decreased body mass index, Choking episod... ORPHA:399
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... ORPHA:435651
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Bardet-Biedl Syndrome 9
Obesity, Polydipsia, Truncal obesity, Polyphagia OMIM:615986
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Polyphagia, Large for gestational age ORPHA:276575
Schaaf-Yang Syndrome
Failure to thrive in infancy, Polyphagia, Arthrogryposis multiplex congenita, Inability to walk, ... OMIM:615547
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... OMIM:151660
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Polyphagia OMIM:275000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Polyphagia, Large for gestational age ORPHA:276580
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Summitt Syndrome
Obesity OMIM:272350
Temple Syndrome
Obesity, Small for gestational age, Polyphagia ORPHA:254516
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Obesity OMIM:616756
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, G... ORPHA:363400
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elbow flexion contracture, Elevate... OMIM:616516
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus OMIM:615981
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Reduced C-peptide level, Type I diabetes mellitus, Flexion contracture OMIM:618856
Combined Oxidative Phosphorylation Deficiency 15
Unsteady gait, Obesity, Ataxia OMIM:614947
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Hypertriglyceridemia, Diabetes mellitus, Flexion contracture OMIM:615381
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Abnormality of body weight, Insulin-resistant diabetes mellitus, Fasting hy... ORPHA:2298
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Obesity, Decreased circulating cortisol level OMIM:600955
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Hypertriglyceridemia ORPHA:66628
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Diabetes mellitus OMIM:610628
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Reactive hypoglyce... ORPHA:276608
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Retinitis Pigmentosa
Obesity, Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Hypertriglyceridemia ORPHA:179494
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Glycerol Kinase Deficiency
Hypoglycemia, Hypertriglyceridemia, Small for gestational age OMIM:307030
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Lipodystrophy, Lipoatrophy, Dia... ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resi... ORPHA:79083
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:147630
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Obesity, Failure to thrive in infancy OMIM:613670
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
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased circulating cortisol level, Abdominal obesity, Increased body weight OMIM:615954
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Man1B1-Cdg
Truncal obesity, Broad-based gait, Polyphagia ORPHA:397941
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia ORPHA:254531
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Blue Diaper Syndrome
Hypercalcemia, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Inc... ORPHA:94086
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Obesity, Keloids, Type II diabetes mellitus, Hyperinsulinemia ORPHA:3085
Mehmo Syndrome
Obesity, Hypoglycemia, Small for gestational age OMIM:300148
Insulinoma
Increased body weight, Polyphagia, Lethargy ORPHA:97279
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Obesity OMIM:618124
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Primary Lipodystrophy
Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Lipodystrophy, Lipoatrophy ORPHA:90970
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia, Failure to thrive, Glycosuria, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Dorsocervical fat pad, Increased circulating cortisol level, Diabetes m... OMIM:615830
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Pick Disease Of Brain
Polyphagia OMIM:172700
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Luscan-Lumish Syndrome
Obesity, Overgrowth, Polyphagia OMIM:616831
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Frontotemporal Dementia
Polyphagia OMIM:600274
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Obesity, Ataxia ORPHA:459033
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Obesity, Lipoma, Dystonia ORPHA:480907
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Large for gestational age, N... ORPHA:79644
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus ORPHA:2377
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Truncal obesity, Camptodactyly of finger ORPHA:2928
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Failure to thrive, Impaired glucose tolerance, Hypophosphatemia, Glycosuria... ORPHA:2088
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98855
Congenital Analbuminemia
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, ... ORPHA:86816
Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
Chromosome Xq26.3 Duplication Syndrome
Overgrowth, Polyphagia, Tall stature OMIM:300942
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Truncal obesity, Amelogenesis imperfecta, Obesity, Inguinal hernia OMIM:618363
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity ORPHA:261483
Spastic Paraplegia 11, Autosomal Recessive
Dysphagia, Spastic gait, Ataxia, Tip-toe gait, Obesity OMIM:604360
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Small for gestational age, Type I diabetes mellitus, Glycosuria OMIM:618857
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Baralle-Macken Syndrome
Dystonia, Obesity, Inability to walk OMIM:619255
Growth Factors, Combined Defect Of
Insulin-resistant diabetes mellitus, Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion ... OMIM:233805
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia ORPHA:228402
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Obesity, Diabetes mellitus, Hyperuricemia ORPHA:77296
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Unsteady gait, Obesity, Inability to walk, Ataxia OMIM:618443
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia OMIM:606407
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... ORPHA:280365
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Tall stature, Insulin resistance, Eunuchoid habitus, O... ORPHA:91
Short Syndrome
Insulin resistance, Weight loss, Lipodystrophy, Abnormal dental enamel morphology, Diabetes melli... ORPHA:3163
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:444002
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
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia OMIM:615538
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Elevated circulating creatine kinase concentration, Lipody... OMIM:613327
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Achi... ORPHA:98853
Halothane Hepatitis
Obesity OMIM:234350
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Abnormal dental enamel morphology, Polyphagia ORPHA:251004
Trisomy 5P
Obesity ORPHA:1742
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Laron Syndrome
Hypercholesterolemia, Hypoglycemia, Truncal obesity ORPHA:633
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Obesity, Type II diabetes mellitus, Eunuchoid habitus ORPHA:2234
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Nephronophthisis 15
Obesity OMIM:614845
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance ORPHA:90301
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight OMIM:614450
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, Akinesia OMIM:618822
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia OMIM:613027
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Ataxia, Waddling gait, Unsteady gait, Obesity, Difficulty walking ORPHA:464282
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Obesity, Shuffling gait, Broad-based gait ORPHA:3077
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Truncal obesity ORPHA:2429
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder OMIM:301013
Summitt Syndrome
Obesity, Camptodactyly of finger, Tall stature ORPHA:3210
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... ORPHA:79240
Biemond Syndrome Type 2
Obesity ORPHA:141333
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Abnormal circulati... ORPHA:263455
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:608594
Angelman Syndrome
Dysphagia, Polyphagia, Hyperactivity, Inability to walk, Ataxia, Broad-based gait, Obesity ORPHA:72
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Dysmetria, Inability to walk, Unsteady gait, Obesity ORPHA:93952
Chung-Jansen Syndrome
Obesity, Attention deficit hyperactivity disorder OMIM:617991
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Sim1-Related Prader-Willi-Like Syndrome
Polyphagia, Failure to thrive, Abdominal obesity, Obesity, Lethargy ORPHA:398079
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Pediatric-Onset Graves Disease
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Spastic gait, Shuffling gait, Bradykinesia, Wrist flexion contracture, Ataxia, Flexion ... OMIM:300055
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Obesity, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced intrathor... OMIM:269700
Rafiq Syndrome
Ataxia, Obesity, Truncal obesity, Flexion contracture OMIM:614202
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus OMIM:614613
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Short Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intoleranc... OMIM:269880
Alstrom Syndrome
Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Truncal obesity, Hy... OMIM:203800
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Abnormal circulating lipid concentration, Truncal obesity, Diabetes mellitus,... OMIM:616541
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Glucose intolerance, Impaired glucose tolerance OMIM:615630
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Decreased body weight... ORPHA:444490
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia, Failure to thrive, Abdominal obesity, Flexion contracture, Increased body weight, Let... ORPHA:398069
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Failure to thrive, Elevated circulating creatine kinase conce... ORPHA:264580
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity ORPHA:813
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Primary Pigmented Nodular Adrenocortical Disease
Type II diabetes mellitus, Hyperlipidemia, Dorsocervical fat pad, Glucose intolerance, Abnormal s... ORPHA:189439
Monosomy 13Q34
Obesity, Infantile hypercalcemia, Insulin resistance ORPHA:96168
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:90154
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Idiopathic Intracranial Hypertension
Obesity, Lethargy ORPHA:238624
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
13Q12.3 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity ORPHA:412035
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Obesity, Diabetes mellitus, Overweight ORPHA:69663
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Seckel Syndrome 10
Insulin resistance, Glucose intolerance, Impaired glucose tolerance, Glycosuria, Diabetes mellitu... OMIM:617253
48,Xxyy Syndrome
Type II diabetes mellitus, Tall stature, Abnormal dental enamel morphology, Obesity, Inguinal hernia ORPHA:10
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Dorsocervical fat pad, Glucose intolerance, Increased circulating cortisol level,... ORPHA:189427
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity ORPHA:2233
Nephrotic Syndrome, Type 14
Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Angelman Syndrome Due To A Point Mutation
Dysphagia, Gait imbalance, Abnormal eating behavior, Ataxia, Broad-based gait, Obesity ORPHA:411511
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Prader-Willi Syndrome
Failure to thrive in infancy, Polyphagia, Abdominal obesity, Obesity, Attention deficit hyperacti... OMIM:176270
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia OMIM:612463
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss, Polyphagia ORPHA:95427
X-Linked Acrogigantism
Ataxia, Increased body mass index, Polyphagia, Tall stature ORPHA:300373
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hypercholesterolemia, Diabete... ORPHA:90041
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Retinopathy, Pigmentary, And Mental Retardation
Truncal obesity OMIM:268050
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Diabetes mel... OMIM:609069
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabe... ORPHA:769
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Hypoglycemia OMIM:608624
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Bardet-Biedl Syndrome 1
Insulin resistance, Truncal obesity, Abdominal obesity, Diabetes mellitus, Obesity OMIM:209900
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity ORPHA:2183
7Q11.23 Microduplication Syndrome
Polyphagia, Dysmetria, Congenital diaphragmatic hernia, Hyperactivity, Unsteady gait, Obesity, In... ORPHA:96121
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Glucose intolerance, Impaired glucose tolerance, Abdominal obesity, Obesity OMIM:219090
Bdv Syndrome
Obesity, Type II diabetes mellitus, Hyperinsulinemia OMIM:619326
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Obesity, Achilles tendon contracture, Hyperal... OMIM:615418
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Werner Syndrome
Chondrocalcinosis, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Slender build, L... ORPHA:902
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Polyphagia OMIM:156200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Donohue Syndrome
Fasting hypoglycemia, Hyperglycemia, Adipose tissue loss, Severe failure to thrive, Postprandial ... OMIM:246200
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia OMIM:618398
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus OMIM:260370
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Insulin-Like Growth Factor I, Resistance To
Lipodystrophy, Reduced subcutaneous adipose tissue, Truncal obesity, Diabetes mellitus, Decreased... OMIM:270450
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Obesity ORPHA:98754
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Obesity ORPHA:98793
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lipodystrophy, Panniculitis, Hypertriglyceridemia, Flexion contracture OMIM:617591
Wagr Syndrome
Obesity ORPHA:893
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hypoglycemia, Hyperlipidemia ORPHA:369
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Obesity ORPHA:177904
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Gait imbalance, Abnormal eating behavior, Hyperactivity, Ataxia, Broad-based gait, Obe... ORPHA:98794
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperlipidemia OMIM:232400
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Obesity ORPHA:177901
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Failure to thrive, Increa... OMIM:267700
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Adnp Syndrome
Polyphagia, Inguinal hernia, Truncal obesity, Oral-pharyngeal dysphagia, Attention deficit hypera... ORPHA:404448
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Prader-Willi Syndrome
Failure to thrive, Attention deficit hyperactivity disorder, Abdominal obesity, Polyphagia ORPHA:739
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypoketotic hypoglycemia, Small for gestational age, Elevated circulating creati... ORPHA:26793
Pseudohypoparathyroidism Type 1C
Obesity, Enamel hypoplasia, Polyphagia, Laryngeal dystonia ORPHA:79444
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Umbilical hernia, Trun... ORPHA:284180
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Abcd Syndrome
Large for gestational age OMIM:600501
Prader-Willi-Like Syndrome
Small for gestational age, Polyphagia, Failure to thrive, Bulimia, Obesity ORPHA:398073
Joubert Syndrome 32
Ataxia, Large for gestational age, Tall stature OMIM:617757
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Obesity OMIM:600430
Leprechaunism
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Failure to thrive, Reduced subcutaneous ad... ORPHA:508
Smith-Magenis Syndrome
Hypercholesterolemia, Obesity, Failure to thrive in infancy, Hypertriglyceridemia ORPHA:819
Distal 16P11.2 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Failure ... ORPHA:247598
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Failure to thrive, Elevated circulating creatine kinase concentration, Hype... ORPHA:370
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Decreased serum iron, Diabetes mellitus, Flexion contracture, Overweight ORPHA:391372
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Failure to thrive OMIM:220111
Atkin-Flaitz Syndrome
Obesity, Tall stature OMIM:300431
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Dysmetria, Reduced subcutaneous adipose tissue, Truncal obesity, Unsteady gait, Flexion contractu... ORPHA:3041
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Hyperglycemia, Joint contracture of the hand, Inguinal hernia, Camptodactyly of... OMIM:175700
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Increased blood ... ORPHA:230
X-Linked Non-Syndromic Intellectual Disability
Obesity, Attention deficit hyperactivity disorder, Small for gestational age ORPHA:777
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Obesity, Ataxia, Tall stature OMIM:618430
Adrenocortical Carcinoma
Hypokalemia, Elevated serum 11-deoxycortisol, Weight loss, Increased circulating cortisol level, ... ORPHA:1501
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Flexion contracture, Insulin resistance ORPHA:90153
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Overweight ORPHA:401923
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Megalencephaly
Truncal obesity ORPHA:2477
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Polyphagia ORPHA:251028
Urban-Rogers-Meyer Syndrome
Obesity, Flexion contracture of toe, Camptodactyly of finger ORPHA:3409
Whipple Disease
Hyponatremia, Cachexia, Insulin resistance ORPHA:3452
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Small for gestational age OMIM:210740
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Failure to thrive, Increased LDL cholesterol concentrati... OMIM:278000
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity, Abnormal dental enamel morphology ORPHA:2180
H Syndrome
Lipodystrophy, Hernia, Hypertriglyceridemia, Diabetes mellitus, Camptodactyly ORPHA:168569
Craniopharyngioma
Obesity, Polyphagia ORPHA:54595
Pseudohypoparathyroidism, Type Ic
Obesity, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Pseudohypoparathyroidism Type 1A
Obesity, Enamel hypoplasia, Polyphagia, Laryngeal dystonia ORPHA:79443
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypomagnesemia, Obesity ORPHA:34527
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Attention deficit hyperactivity disorder, Abdominal obesity, Campt... OMIM:301039
Carpenter Syndrome
Obesity, Umbilical hernia ORPHA:65759
Macrocephaly/Autism Syndrome
Obesity OMIM:605309
Bloom Syndrome
Small for gestational age, Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes m... ORPHA:125
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Shox-Related Short Stature
Obesity ORPHA:314795
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Truncal obesity, Paradoxical incr... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Increased circulating cortisol level, Truncal obesity, Paradoxical incr... OMIM:610489
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia OMIM:603471
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Gait ataxia, Abdominal obesity OMIM:300354
Perrault Syndrome 4
Disproportionate tall stature, Obesity, Gait ataxia OMIM:615300
Pseudohypoparathyroidism, Type Ia
Obesity, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Senior-Loken Syndrome 9
Obesity OMIM:616629
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hypokalemia ORPHA:681
Radio-Tartaglia Syndrome
Dysphagia, Gait imbalance, Ataxia, Obesity, Attention deficit hyperactivity disorder OMIM:619312
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Overgrowth, Small for gestational age, Large for gestational age, Umbilical hernia ORPHA:254534
Gitelman Syndrome
Maternal diabetes, Type II diabetes mellitus, Chondrocalcinosis, Primary hyperaldosteronism, Insu... ORPHA:358
Myofibrillar Myopathy 11
Dysphagia, Overweight OMIM:619178
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Failure to thrive, Congenital diaphragmatic hernia, Obesity, Attention deficit hyperact... ORPHA:261197
15Q24 Microdeletion Syndrome
Small for gestational age, Failure to thrive, Congenital diaphragmatic hernia, Hernia, Obesity ORPHA:94065
Gangliocytoma
Polyphagia ORPHA:251937
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity OMIM:600122
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity, Polydipsia, Polyphagia, Cyanosis ORPHA:293987
X-Linked Intellectual Disability, Cabezas Type