Gene: Wdtc1 MGI:2685541

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Gene Summary

Name:
WD and tetratricopeptide repeats 1
Synonyms:
LOC230796,  adp,  adipose

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
decreased circulating HDL cholesterol level Wdtc1tm1a(KOMP)Wtsi HOM Early adult 6.48×10-05
decreased circulating LDL cholesterol level Wdtc1tm1a(KOMP)Wtsi HOM   Early adult 2.62×10-05
decreased fasting circulating glucose level Wdtc1tm1a(KOMP)Wtsi HOM Early adult 7.04×10-05
abnormal vertebral arch morphology Wdtc1tm1a(KOMP)Wtsi HOM   Early adult 4.87×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

Legacy Phenotype Associated Images

View all 70 images

View all 8 images

Human diseases caused by Wdtc1 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 Wdtc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity OMIM:614662
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset truncal ob... ORPHA:71529
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Diabetes mellitus, Insulin resistance, Abdominal obesity OMIM:615980
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Gonadotropin deficiency, Hyperinsulinemia, Pituitary hypothyroidism, Centr... ORPHA:71526
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ... ORPHA:280356
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Lipoatrophy, Insulin resistance ORPHA:79084
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Failure to thrive, Type II diabetes mellitus, ... ORPHA:181393
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity OMIM:617885
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Insulin-... ORPHA:79085
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Obesity OMIM:615703
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hyperinsulinemic... ORPHA:276575
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Inc... OMIM:608600
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired glucose tolera... OMIM:606721
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Decreased response to growth hormone stimuation test, Abdominal obesity OMIM:618160
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Glucose intolerance, ... ORPHA:552
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Summitt Syndrome
Obesity OMIM:272350
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Increased adipose tissu... ORPHA:435660
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of ... OMIM:604367
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Diabetes mellitus, Genera... OMIM:612526
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypok... ORPHA:276556
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Decreased response to growth hormone stimuation test, ... OMIM:609734
Narcolepsy Type 1
Obesity ORPHA:2073
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Fasting hyperinsulinemia, Neoplasm of the adrena... ORPHA:97279
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia, Hypoglycemia OMIM:232700
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decreased response to growth hormone st... OMIM:614963
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Obesity OMIM:614962
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Mandibuloacral Dysplasia
Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increase... ORPHA:2457
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of gluteal subcu... ORPHA:435651
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemia, Hyp... ORPHA:263455
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Reduced subcutaneous... ORPHA:363400
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Glucose intolerance, Hyperinsulinemia, Absence of secon... ORPHA:785
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity OMIM:610628
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increased adipose tissue aro... OMIM:151660
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodystrophy, Precocious puberty in f... ORPHA:528
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Tall stature, Femoral hernia ORPHA:2849
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimuation test, Hypoglycemia, Delayed pu... OMIM:300148
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Severe f... OMIM:246200
Immunodeficiency 61
Obesity OMIM:300310
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Rafiq Syndrome
Obesity OMIM:614202
Temple Syndrome
Decreased response to growth hormone stimuation test, Small for gestational age, Type II diabetes... ORPHA:254516
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Bangstad Syndrome
Increased circulating cortisol level, Hyperinsulinemia, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Lipodystrophy, Flexion contracture, Hypogonadism, Diabetes mellitus OMIM:615381
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypogonadism, Eunuchoid habitus, Obe... ORPHA:2234
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Failur... ORPHA:79237
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Delayed puberty, Obesity ORPHA:141333
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Obesity OMIM:603233
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Halothane Hepatitis
Obesity OMIM:234350
Temple Syndrome
Maturity-onset diabetes of the young, Overweight, Flexion contracture, Truncal obesity, Small for... OMIM:616222
Familial Multiple Lipomatosis
Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity ORPHA:88643
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Lipoatrophy, Lipodystrophy, Diabetes mellitus, Loss of subcutaneo... ORPHA:2348
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Truncal obesity, Failure to thrive ORPHA:261483
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus, Diabetes... ORPHA:79083
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistanc... ORPHA:280365
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Truncal obesity, Diabetes mellitus, Macronodular adrenal hyperplasia, Failure to thrive ORPHA:189427
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Retinitis Pigmentosa 71
Obesity OMIM:616394
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Pancreatic Agenesis 1
Diabetes mellitus, Neonatal insulin-dependent diabetes mellitus, Failure to thrive OMIM:260370
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Panniculitis, Insulin-resistant diabetes mellitus, Generali... ORPHA:79086
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Nephronophthisis 15
Obesity OMIM:614845
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Small for g... OMIM:300869
Primary Lipodystrophy
Lipodystrophy, Lipoatrophy, Type II diabetes mellitus, Insulin resistance ORPHA:90970
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Postprandial hyperglycemia, Impaired glucose tolerance,... ORPHA:769
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Truncal obesity, Inguinal hernia, Hip contracture, Obesity OMIM:618363
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipodystrophy, T... OMIM:608594
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Increased circulating cortisol level, Elevated circulating growth ... ORPHA:276152
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro... OMIM:614450
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Bangstad Syndrome
Goiter, Small for gestational age, Primary gonadal insufficiency, Insulin-resistant diabetes mell... OMIM:210740
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Type II diabetes mellitus, Obesity ORPHA:3191
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Trisomy 5P
Obesity ORPHA:1742
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Insulin resistance, Lipodystrophy, Flexion contracture, Failure to thrive OMIM:613327
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Increased body weight, Dorsocervi... OMIM:615830
Laron Syndrome
Truncal obesity, Abnormality of the endocrine system, Hypoglycemia, Delayed puberty ORPHA:633
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Lipodystrophy, T... OMIM:269700
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Failure to thrive, Glycosuria ORPHA:2089
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity OMIM:301900
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Failure to thrive in infancy, Cachexia, Recurrent hypog... ORPHA:813
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Truncal obesity, Small for gestational age, Precocious pube... ORPHA:96184
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Short Syndrome
Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Truncal obesity OMIM:268050
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Tall stature, Type II diabetes mellitus, Eunu... ORPHA:91
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Enamel hypoplasia, Obesity OMIM:612463
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
48,Xxyy Syndrome
Abnormal dental enamel morphology, Hypergonadotropic hypogonadism, Tall stature, Inguinal hernia,... ORPHA:10
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperglycemia, Diabetes mel... OMIM:609069
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH le... OMIM:219090
Clark-Baraitser Syndrome
Obesity OMIM:617752
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Absence of secondary sex characteristics, Hypothalamic gonadotropi... ORPHA:2235
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Truncal obesity, Inguinal hernia, Diabetes mellitus OMIM:616541
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Recurrent infantile hypoglycemia, Insulin resistance, Pos... ORPHA:508
Werner Syndrome
Slender build, Insulin resistance, Chondrocalcinosis, Lipoatrophy, Lipodystrophy, Thyroid carcino... ORPHA:902
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Lipodystrophy, Decreased body weight, Truncal obesi... OMIM:270450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Impaired glucose tolerance, Glucose intolerance, Obesity OMIM:615630
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Impaired... OMIM:617253
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid hor... OMIM:612462
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Perrault Syndrome 4
Increased circulating gonadotropin level, Disproportionate tall stature, Decreased serum estradio... OMIM:615300
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Obesity ORPHA:166024
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Baralle-Macken Syndrome
Obesity OMIM:619255
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture, Failure to thrive in infa... OMIM:615547
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Chung-Jansen Syndrome
Obesity OMIM:617991
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Prader-Willi Syndrome
Hyperinsulinemia, Decreased response to growth hormone stimuation test, Failure to thrive in infa... OMIM:176270
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand, Hyperglyc... OMIM:175700
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Generalized lipodystrophy, Insulin resistance ORPHA:90154
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia, Obesity OMIM:608624
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia OMIM:266510
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hyperglycemia, Hypoglycemia, Failure to thrive OMIM:220111
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid hor... OMIM:103580
Wagr Syndrome
Obesity ORPHA:893
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Increased circulating farnesol concentration, Elevated c... OMIM:618156
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98754
Mental Retardation, Autosomal Recessive 13
Truncal obesity OMIM:613192
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Premature pubarche, Premature adrenarche, Central hypothyroidism, ... ORPHA:398079
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:98793
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Whipple Disease
Hypothyroidism, Cachexia, Insulin resistance ORPHA:3452
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:177904
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hypothyroidism,... ORPHA:177901
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Flexion contracture of toe, Obesity ORPHA:3409
Potocki-Lupski Syndrome
Scoliosis, Hypocholesterolemia OMIM:610883
Sheehan Syndrome
Gonadotropin deficiency, Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91355
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Atkin-Flaitz Syndrome
Tall stature, Obesity OMIM:300431
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Premature adrenarche, Small for gestational age, Failur... ORPHA:96182
Microtriplication 11Q24.1
Obesity ORPHA:289522
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma ORPHA:681
Cushing Disease
Lipodystrophy, Truncal obesity, Failure to thrive, Diabetes mellitus, Adrenal hyperplasia, Pituit... ORPHA:96253
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Abnormality of the endocrine system, Obesity ORPHA:464288
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Premature pubarche, Premature adrenarche, Decreased circulat... ORPHA:398073
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Megalencephaly
Truncal obesity ORPHA:2477
15Q24 Microdeletion Syndrome
Obesity, Small for gestational age, Hernia, Failure to thrive, Congenital diaphragmatic hernia, D... ORPHA:94065
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Macrocephaly/Autism Syndrome
Obesity OMIM:605309
48,Xxxy Syndrome
Abnormal dental enamel morphology, Tall stature, Inguinal hernia, Type II diabetes mellitus, Hypo... ORPHA:96263
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormality of the hypothal... ORPHA:3157
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Pseudohypoparathyroidism, Obesity OMIM:617157
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Reduced subcutaneous adipose tissue, Truncal obesity, Flexion contracture of digit ORPHA:3041
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Failure to thrive, Obesity ORPHA:412035
Shox-Related Short Stature
Obesity ORPHA:314795
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Small for gestational age, Abdominal obesity, Diabetes m... ORPHA:125
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Neoplasm of the thyroid gland, Preco... ORPHA:457059
Atypical Werner Syndrome
Hyperinsulinemia, Fasting hyperinsulinemia, Chondrocalcinosis, Abnormality of circulating leptin ... ORPHA:79474
Gitelman Syndrome
Maternal diabetes, Graves disease, Glucose intolerance, Insulin resistance, Chondrocalcinosis, Pr... ORPHA:358
Cornelia De Lange Syndrome 5
Hypogonadism, Truncal obesity OMIM:300882
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia, Weight loss ORPHA:2126
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Glycosuria, Failure... ORPHA:2088
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Obesity ORPHA:247768
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Weight loss, Decreased serum testosterone concentration, Testicular atrophy, Hypo... ORPHA:465508
Craniopharyngioma
Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, Hypopituitaris... ORPHA:54595
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Weight loss, G... ORPHA:99885
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Type I diabet... ORPHA:96180
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance ORPHA:90153
Down Syndrome
Hypothyroidism, Umbilical hernia, Type II diabetes mellitus, Obesity ORPHA:870
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity OMIM:600122
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Delayed puberty, Abdominal obesity OMIM:300354
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Streak ovary, Obesity OMIM:194072
Dysbetalipoproteinemia
Hypothyroidism, Diabetes mellitus, Obesity ORPHA:412
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Intellectual Developmental Disorder, X-Linked 12
Truncal obesity, Small for gestational age, Increased body mass index OMIM:300957
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures ... ORPHA:98853
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Obesity ORPHA:34527
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Carpenter Syndrome
Umbilical hernia, Obesity ORPHA:65759
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Obesity ORPHA:777
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Type I diabetes mellitus, Precocious puberty, Obesity OMIM:619269
Necrotizing Enterocolitis
Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Premature pubarche, Central hypothyroidism, Hypothalamic luteinizing hormone-r... ORPHA:398069
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Overweight, Small for gestational age, Obesity ORPHA:26793
Bardet-Biedl Syndrome 1
Hypogonadism, Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity OMIM:209900
Momo Syndrome
Overgrowth, Large for gestational age, Tall stature, Obesity ORPHA:2563
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimuation test, Obesity OMIM:615873
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Neuroendocrine neoplasm, Proportionate tall stature, Obesity ORPHA:404443
Prader-Willi Syndrome
Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gland, Decrease... ORPHA:739
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Failure to thrive, Obesity OMIM:612938
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
19P13.12 Microdeletion Syndrome
Hypothyroidism, Arthrogryposis multiplex congenita, Precocious puberty, Obesity ORPHA:254346
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Postprandial hyperglycemia, Thyrot... ORPHA:79102
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Decreased response to growth hormone stimuation test, Congenital hypoth... ORPHA:280651
Smith-Magenis Syndrome
Hypothyroidism, Failure to thrive in infancy, Delayed puberty, Precocious puberty, Obesity ORPHA:819
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Inguinal hernia, Cachexia, Hypogonadism, Obesity ORPHA:85293
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Borjeson-Forssman-Lehmann Syndrome
Hypogonadism, Truncal obesity, Camptodactyly of toe ORPHA:127
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Obesity ORPHA:86816
Bardet-Biedl Syndrome
Hypogonadism, Hypoplasia of the ovary, Obesity ORPHA:110
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Rett Syndrome
Increased serum leptin, Failure to thrive ORPHA:778
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Kennerknecht Syndrome
Omphalocele, Abdominal obesity OMIM:600908
Carpenter Syndrome 1
Camptodactyly, Omphalocele, Umbilical hernia, Joint contracture of the hand, Precocious puberty, ... OMIM:201000
Cohen Syndrome
Childhood-onset truncal obesity, Delayed puberty, Small for gestational age, Decreased response t... OMIM:216550
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Obesity ORPHA:251004
Man1B1-Cdg
Truncal obesity ORPHA:397941
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadism, Non-medu... ORPHA:273
Desbuquois Dysplasia 1
Obesity OMIM:251450
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hyperglycemia, Hypopituitarism ORPHA:90065
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Hypoalbuminemia, Hypocholesterolemia OMIM:212065
Abetalipoproteinemia
Hypotriglyceridemia, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decreased LDL choleste... ORPHA:14
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Delayed puberty, Hypogonadotropic hypogon... ORPHA:478
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Camptodactyly, Abdominal obesity OMIM:301039
Joubert Syndrome 8
Obesity OMIM:612291
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia, Weight loss ORPHA:134
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Decreased response t... ORPHA:79444
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Umbilical hernia, Obesity ORPHA:1001
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Femoral hernia, Failure to thrive, Obesity ORPHA:96147
Turner Syndrome Due To Structural X Chromosome Anomalies
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99413
Turner Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:881
Mosaic Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99228
Monosomy X
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, High urinary gon... ORPHA:99226
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Pubertal developmental failure in females, Absence of... ORPHA:740
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Obesity ORPHA:261197
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Weight loss, Obesity ORPHA:251071
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Chops Syndrome
Obesity OMIM:616368
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Truncal obesity, Precocious puberty, Type II diabetes mellitus OMIM:210720
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Inguinal hernia, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:440713
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Amelogenesis imperfecta, Overweight, Decreased body weight, Obesity OMIM:619229
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Pituitary adenoma, Failure to thrive in infancy, Obesity, D... ORPHA:96149
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Decreased response t... ORPHA:79443
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Kaufman Oculocerebrofacial Syndrome
Ovoid vertebral bodies, Hypocholesterolemia OMIM:244450
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Premature adrenarche, Central hypothyroidism, Decreased response to grow... ORPHA:293987
Angelman Syndrome
Obesity OMIM:105830
Ulnar-Mammary Syndrome
Camptodactyly of finger, Delayed puberty, Hernia of the abdominal wall, Obesity ORPHA:3138
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Mitchell-Riley Syndrome
Hyperglycemia OMIM:615710
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Pseudohypoparathyroidism, Hypothyroidism, Omphalocele, Hypoglycemia, Tall ... ORPHA:116
Kleefstra Syndrome 1
Obesity OMIM:610253
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Congenital diaphragmatic hernia, Obesity ORPHA:468678
Angelman Syndrome
Delayed menarche, Precocious puberty in females, Obesity ORPHA:72
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Neuroendocrine neoplasm, Weight loss, Truncal obesity, Thyroid carcinoma, Thymo... ORPHA:99889
Dend Syndrome
Hyperglycemia ORPHA:79134
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Hypogonadism, Delayed puberty, Truncal obesity, Obesity OMIM:309585
Kleefstra Syndrome
Hernia, Obesity ORPHA:261494
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Achondroplasia
Obesity ORPHA:15
Cohen Syndrome
Delayed puberty, Failure to thrive in infancy, Obesity ORPHA:193
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Heart Defects, Congenital, And Other Congenital Anomalies
Aplasia of the left hemidiaphragm, Umbilical hernia, Glycosuria, Inguinal hernia, Failure to thri... OMIM:600001
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Obesity OMIM:141750
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Obesity ORPHA:369837
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
7Q11.23 Microduplication Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Obesity ORPHA:96121
Digeorge Syndrome
Decreased circulating parathyroid hormone level, Hypothyroidism, Umbilical hernia, Inguinal herni... OMIM:188400
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Precocious puberty ORPHA:2637
Xq21 Microdeletion Syndrome
Anterior hypopituitarism, Decreased response to growth hormone stimuation test, Pituitary hypothy... ORPHA:1435
Xylt1-Cdg
Truncal obesity ORPHA:370930
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:177907
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia, Failure to thrive ORPHA:3008
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Hyperglycemia, Decreased response to growth hormone stimuation test, Obesity ORPHA:444077
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Failure to thrive, Obesity ORPHA:369950
Kabuki Syndrome
Congenital diaphragmatic hernia, Precocious puberty, Failure to thrive, Obesity ORPHA:2322
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
45,X/46,Xy Mixed Gonadal Dysgenesis
Increased circulating gonadotropin level, Hypothyroidism, Streak ovary, Delayed puberty, Decrease... ORPHA:1772
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Insulin resistance, Abnormal... ORPHA:79318
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Obesity OMIM:250420
22Q11.2 Deletion Syndrome
Abnormal dental enamel morphology, Hypothyroidism, Umbilical hernia, Hypoplasia of the thymus, In... ORPHA:567
Alström Syndrome
Puberty and gonadal disorders, Hyperinsulinemia, Insulin resistance, Hypergonadotropic hypogonadi... ORPHA:64
Primrose Syndrome
Glucose intolerance, Hypergonadotropic hypogonadism, Flexion contracture, Truncal obesity, Congen... OMIM:259050
Witteveen-Kolk Syndrome
Obesity, Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Decreased r... OMIM:613406
Osteogenesis Imperfecta
Scoliosis, Abnormal form of the vertebral bodies, Biconcave vertebral bodies, Kyphosis, Enlarged ... ORPHA:666
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity OMIM:618653
Myhre Syndrome
Vertebral fusion, Platyspondyly, Short neck, Enlarged vertebral pedicles OMIM:139210
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Delayed puberty, Inguinal hernia, Obe... OMIM:181450
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
17Q24.2 Microdeletion Syndrome
Truncal obesity, Pineal cyst, Failure to thrive in infancy ORPHA:529962
Smith-Lemli-Opitz Syndrome
Elevated 7-dehydrocholesterol, Hypocholesterolemia OMIM:270400