Gene Summary

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

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

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Ophthalmoscopy

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

DSS Histology

Images

8 Images

Ear epidermis immunophenotyping

Images

12 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
Decreased serum insulin-like growth factor 1, Delayed puberty, Insulin resistance, Truncal obesity ORPHA:140941
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulin... OMIM:256450
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia,... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... 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
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Truncal obesity OMIM:240900
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Increased adipose tissue, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance ORPHA:2398
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Obesity, Increased circulating T4 level, Decreased circulating free T3, Abn... ORPHA:171706
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Pituitary hypothyroidism, Hyperinsulinemia, Obesi... 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
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Loss of gluteal subcutaneous adipose tissue, Hyperins... ORPHA:280356
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Ketotic hypoglycemia, Hypoglycemic seizures, Neonatal hypoglycemia, Fa... ORPHA:324575
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Lipoatrophy ORPHA:79084
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Insulin resistance, Diabetes insipidus, Truncal obesity, Failure to thrive, Diabete... ORPHA:181393
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Small for gestational age, Failure to thrive, Transient ne... ORPHA:99886
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Obesity Due To Sim1 Deficiency
Glucose intolerance, Obesity, Hyperinsulinemia ORPHA:369873
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Insulin resistance, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... OMIM:604367
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276580
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes mellitus OMIM:613877
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin lev... ORPHA:79085
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Morbid Obesity And Spermatogenic Failure
Obesity, Insulin resistance, Type II diabetes mellitus OMIM:615703
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Small for gestationa... OMIM:262190
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Fasting hypoglycemia, Excessive insulin respons... ORPHA:276575
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased subcutaneous truncal adipos... OMIM:608600
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity OMIM:618160
Mody
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Obesity, Overweight, Insulin-resist... ORPHA:552
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:66628
Glycogen Storage Disease Ixa1
Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Summitt Syndrome
Obesity OMIM:272350
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Neonatal hypoglycemia, Abnorma... ORPHA:79644
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Obesity, Decreased serum estradiol, Decreased serum testosterone concentration,... ORPHA:179494
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Insulin resistance, Loss of gluteal subcutaneous adipose tissue, Decreased serum l... ORPHA:435660
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue... OMIM:612526
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Diabetes mellitus, Insulin resistance, Abdominal obesity OMIM:615980
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hypoglycemic seizures, Excessive insulin response to glucagon test, Re... ORPHA:276556
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Retinitis Pigmentosa
Atypical scarring of skin, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypogonadism ORPHA:791
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le... OMIM:615954
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Hypoglycemic seizures, Gonadotropin deficiency, Obesity, Adrenal hypoplasi... OMIM:609734
Narcolepsy Type 1
Obesity ORPHA:2073
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618858
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Glycogen Storage Disease Vi
Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Obesity, Joint contracture of the hand OMIM:264010
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Leptin Receptor Deficiency
Delayed puberty, Obesity, Decreased response to growth hormone stimulation test, Diabetes mellitu... OMIM:614963
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Reactive hypoglycemia OMIM:600955
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Decreased body weight, Fasting hypoglycemia, Insulin resistanc... ORPHA:2298
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Increased subcutaneous truncal adipose tissue, Contractures... ORPHA:2457
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... ORPHA:90301
Lipodystrophy, Familial Partial, Type 2
Lipodystrophy, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissue, Increased facial ad... OMIM:151660
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Generalized lipodyst... ORPHA:363400
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Glycosuria, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperinsuline... ORPHA:263455
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level OMIM:615238
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Insulin-resis... ORPHA:435651
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, In... ORPHA:785
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Obesity, Diabetes mellitus OMIM:610628
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... OMIM:246700
Central Precocious Puberty
Obesity, Isosexual precocious puberty, Overgrowth, Premature thelarche, Increased circulating gon... ORPHA:759
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Delayed puberty, Obesity, Male hypogonadism, Decreased r... OMIM:300148
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Loss of facial adipose tissue, Hyperinsulinemia, Decreased adipose tissue ar... OMIM:608612
Congenital Generalized Lipodystrophy
Lipodystrophy, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, Proportionate... ORPHA:528
Perlman Syndrome
Inguinal hernia, Tall stature, Femoral hernia, Hyperinsulinemia ORPHA:2849
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Bardet-Biedl Syndrome 19
Obesity, Hypogonadism OMIM:615996
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Immunodeficiency 61
Obesity OMIM:300310
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Adipose tissue loss, S... OMIM:246200
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Lipodystrophy, Flexion contracture, Hyperinsulinemia, Increased facial adipose tissue, Reduced su... OMIM:248370
Temple Syndrome
Small for gestational age, Recurrent hypoglycemia, Obesity, Precocious puberty, Type II diabetes ... ORPHA:254516
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Flexion contracture, Insulin resistance, Diabetes mellitus, Hypogonadism OMIM:615381
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hypogona... ORPHA:2234
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Small for gestational age, Failure to thrive, Hypergonadotropic h... ORPHA:79237
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Growth Factors, Combined Defect Of
Lipodystrophy, Flexion contracture, Reduced subcutaneous adipose tissue, Insulin-resistant diabet... OMIM:233805
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism OMIM:615993
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Small for gestational age, Truncal obesity, Failure to thrive, ... ORPHA:73272
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Blue Diaper Syndrome
Recurrent hypoglycemia, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ... ORPHA:94086
Temple Syndrome
Flexion contracture, Small for gestational age, Overweight, Truncal obesity, Maturity-onset diabe... OMIM:616222
Halothane Hepatitis
Obesity OMIM:234350
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Overgrowth ORPHA:199276
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Insulin resistance, Lipoatrophy, Diabetes mellitus, Loss of subcutaneo... ORPHA:2348
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Truncal obesity ORPHA:261483
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Insulin-resistant ... ORPHA:79083
X-Linked Acrogigantism
Diabetes insipidus, Delayed puberty, Increased serum insulin-like growth factor 1, Hypopituitaris... ORPHA:300373
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipodystrophy, Minimal subcutaneous fat, Insulin resistance, Increased facial adipose tissue, Dec... ORPHA:280365
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Morm Syndrome
Truncal obesity ORPHA:75858
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty ORPHA:254531
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus ORPHA:2377
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:616834
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus OMIM:260370
Short Syndrome
Lipodystrophy, Insulin resistance, Inguinal hernia, Abnormal dental enamel morphology, Diabetes m... ORPHA:3163
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Primary Lipodystrophy
Lipodystrophy, Insulin resistance, Type II diabetes mellitus, Lipoatrophy ORPHA:90970
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Generalized lipodystrophy, Insulin-resistant diabetes melli... ORPHA:79086
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Bardet-Biedl Syndrome 4
Obesity, Hypogonadism OMIM:615982
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Decreased serum testosterone concentration, Abdominal obesity, Increas... OMIM:300869
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... OMIM:300888
Nephronophthisis 15
Obesity OMIM:614845
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Fasting hypoglycemia, Insulin resistance, Increased pineal... ORPHA:769
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Mpi-Cdg
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism ORPHA:79319
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Obesity, Truncal obesity, Inguinal hernia, Hip contracture OMIM:618363
Bardet-Biedl Syndrome 8
Obesity, Hypogonadism OMIM:615985
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mell... OMIM:210740
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Lipodystrophy, Congenital Generalized, Type 1
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:608594
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congenital hypothyroidism, Omphal... OMIM:614450
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increase... OMIM:615830
Trisomy 5P
Obesity ORPHA:1742
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Abnormality of the thyroid gland, Obesity, Diabetes mellitus, Abnormality of the ... ORPHA:77296
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Flexion contracture, Insulin resistance, Hyperinsulinemia, Failure to thrive OMIM:613327
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Obesity, Type II diabetes mellitus ORPHA:3191
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Failure to thrive, Ketotic hypoglycemia, Postprandial hyperglycemia ORPHA:2089
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Delayed puberty, Truncal obesity ORPHA:633
Lipodystrophy, Congenital Generalized, Type 2
Lipodystrophy, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabete... OMIM:269700
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abnormal response to corticotropin releasing hormone stimulation test, Macronodular adrenal hyper... ORPHA:189427
Silver-Russell Syndrome
Insulin resistance, Failure to thrive in infancy, Recurrent hypoglycemia, Obesity, Precocious pub... ORPHA:813
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Adrenocortical carcinoma, Increased urinary ... ORPHA:1501
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Obesity, Truncal obesity, Precocious puberty, Maturity-onset diabetes ... ORPHA:96184
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Insulin-res... OMIM:203800
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:2233
Short Syndrome
Lipodystrophy, Small for gestational age, Lipoatrophy, Insulin-resistant diabetes mellitus, Ingui... OMIM:269880
Fryns Macrocephaly
Knee flexion contracture, Truncal obesity OMIM:600302
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Primary Pigmented Nodular Adrenocortical Disease
Pigmented micronodular adrenocortical disease, Increased urinary cortisol level, Dorsocervical fa... ORPHA:189439
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Truncal obesity OMIM:268050
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypergly... OMIM:609069
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Aromatase Deficiency
Insulin resistance, Obesity, Hypergonadotropic hypogonadism, Eunuchoid habitus, Type II diabetes ... ORPHA:91
Pseudopseudohypoparathyroidism
Obesity, Pseudohypoparathyroidism, Enamel hypoplasia OMIM:612463
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Bardet-Biedl Syndrome 1
Insulin resistance, Obesity, Truncal obesity, Diabetes mellitus, Abdominal obesity, Nephrogenic d... OMIM:209900
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Truncal obesity, Paradoxical increased cortisol secretion on dexamethas... OMIM:610475
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
48,Xxyy Syndrome
Obesity, Hypergonadotropic hypogonadism, Inguinal hernia, Abnormal dental enamel morphology, Type... ORPHA:10
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Failure to thrive, Hypoketotic hypoglycemia, Fastin... ORPHA:71212
Pituitary Adenoma 4, Acth-Secreting
Obesity, Pituitary adenoma, Abdominal obesity, Glucose intolerance, Impaired glucose tolerance, I... OMIM:219090
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Clark-Baraitser Syndrome
Obesity OMIM:617752
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia ORPHA:230
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Precocious puberty ORPHA:254525
Seckel Syndrome 10
Glycosuria, Insulin resistance, Elevated circulating luteinizing hormone level, Elevated circulat... OMIM:617253
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, A... ORPHA:2235
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Insulin resistance, Truncal obesity, Inguinal hernia, Diabetes mellitus OMIM:616541
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Obesity, Impaired glucose tolerance OMIM:615630
Perrault Syndrome 4
Obesity, Decreased serum estradiol, Increased circulating gonadotropin level, Disproportionate ta... OMIM:615300
Leprechaunism
Fasting hypoglycemia, Decreased body weight, Insulin resistance, Hyperinsulinemia, Central hypoth... ORPHA:508
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Insulin-Like Growth Factor I, Resistance To
Lipodystrophy, Decreased body weight, Increased serum insulin-like growth factor 1, Reduced subcu... OMIM:270450
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Elevated circulating parath... OMIM:612462
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism OMIM:601794
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Monosomy 13Q34
Obesity, Insulin resistance ORPHA:96168
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:363741
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
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Truncal obesity OMIM:615812
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Hyperinsulinemia, Failure to thrive in infa... OMIM:176270
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Chung-Jansen Syndrome
Obesity OMIM:617991
Schaaf-Yang Syndrome
Flexion contracture, Failure to thrive in infancy, Obesity, Arthrogryposis multiplex congenita, C... OMIM:615547
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Hypoglycemia, Hyperglycemia OMIM:220111
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Acth-Independent Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Primary hypercortisolism, Truncal obesity, Adrenal hyperplasia,... OMIM:219080
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Steatorrhea OMIM:266510
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Enamel hypoplasia, Obesity, Elevated circulating parath... OMIM:103580
Rafiq Syndrome
Obesity, Flexion contracture, Truncal obesity OMIM:614202
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Generalized lipodystrophy, Insulin resistance ORPHA:90154
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Hypoglycemia OMIM:608624
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Werner Syndrome
Lipodystrophy, Insulin resistance, Slender build, Lipoatrophy, Chondrocalcinosis, Type II diabete... ORPHA:902
Potocki-Lupski Syndrome
Hypocholesterolemia, Scoliosis OMIM:610883
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
Wagr Syndrome
Obesity ORPHA:893
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Puberty and gonadal disorders ORPHA:464282
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypogonadotropic hypogonadism, Premature pubarche, Small for gestational age, Central hypothyroid... ORPHA:98754
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Hypocholesterolemia, Increased circulatin... OMIM:618156
Low Phospholipid-Associated Cholelithiasis
Obesity, Diabetes mellitus, Overweight ORPHA:69663
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypogonadotropic hypogonadism, Premature pubarche, Small for gestational age, Central hypothyroid... ORPHA:98793
Whipple Disease
Hypothyroidism, Insulin resistance, Cachexia ORPHA:3452
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypogonadotropic hypogonadism, Premature pubarche, Small for gestational age, Central hypothyroid... ORPHA:177904
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Premature pubarche, Central hypothyroidism,... ORPHA:398079
Lipodystrophy, Familial Partial, Type 7
Lipodystrophy, Insulin resistance, Small for gestational age, Decreased adipose tissue around nec... OMIM:606721
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Obesity, Flexion contracture of toe, Hypogonadism ORPHA:3409
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypogonadotropic hypogonadism, Premature pubarche, Small for gestational age, Central hypothyroid... ORPHA:177901
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
15Q24 Microdeletion Syndrome
Small for gestational age, Hernia, Obesity, Congenital diaphragmatic hernia, Failure to thrive, D... ORPHA:94065
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Hypoglycemia, Abnormal size of pituitary gla... ORPHA:91355
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Insulin resistance, Small for gestational age, Failure to thrive, Precociou... ORPHA:96182
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Senior-Loken Syndrome 9
Obesity, Hypogonadism OMIM:616629
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Atkin-Flaitz Syndrome
Obesity, Tall stature OMIM:300431
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Microtriplication 11Q24.1
Obesity ORPHA:289522
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism ORPHA:464288
Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Premature pubarche, Small for gestational age, Central hypothyroid... ORPHA:398073
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Obesity, Flexion contracture, Male hypogonadism OMIM:300055
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone concentration, De... ORPHA:3464
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
48,Xxxy Syndrome
Obesity, Inguinal hernia, Abnormal dental enamel morphology, Type II diabetes mellitus, Tall stat... ORPHA:96263
Megalencephaly
Truncal obesity ORPHA:2477
Atypical Werner Syndrome
Glycosuria, Decreased body weight, Hyperinsulinemia, Delayed puberty, Generalized lipodystrophy, ... ORPHA:79474
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Macrocephaly/Autism Syndrome
Obesity OMIM:605309
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea OMIM:607765
Septo-Optic Dysplasia Spectrum
Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Anterior pituitary hypoplasia... ORPHA:3157
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Pseudohypoparathyroidism OMIM:617157
Bloom Syndrome
Insulin resistance, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Abdominal ... ORPHA:125
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Flexion contracture of digit, Reduced subcutaneous adipose tissue, Truncal obesity ORPHA:3041
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
13Q12.3 Microdeletion Syndrome
Camptodactyly, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:412035
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Shox-Related Short Stature
Obesity ORPHA:314795
Solitary Fibrous Tumor/Hemangiopericytoma
Recurrent hypoglycemia, Hypoglycemia, Weight loss, Hypoinsulinemia ORPHA:2126
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Decreased serum testosterone concentration, Testic... ORPHA:465508
Fanconi-Bickel Syndrome
Glycosuria, Fasting hypoglycemia, Failure to thrive, Diabetes mellitus, Postprandial hyperglycemi... ORPHA:2088
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Obesity, Hyperthyroidism, Neoplasm of the th... ORPHA:457059
Cornelia De Lange Syndrome 5
Hypogonadism, Truncal obesity OMIM:300882
Gitelman Syndrome
Diabetic ketoacidosis, Primary hyperaldosteronism, Insulin resistance, Hashimoto thyroiditis, Gra... ORPHA:358
Isolated Permanent Neonatal Diabetes Mellitus
Glycosuria, Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Arthrogryposis multi... ORPHA:99885
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Obesity ORPHA:247768
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypoglycemia, Glycosuria, Diabetes mellitus OMIM:616026
Craniopharyngioma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Hypopituitarism, Obesity, Central adre... ORPHA:54595
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Obesity, Abnormal dental enamel morphology ORPHA:439822
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Hypocholesterolemia, Ty... ORPHA:96180
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea ORPHA:71
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypogonadism, Abdominal obesity OMIM:300354
Down Syndrome
Umbilical hernia, Obesity, Type II diabetes mellitus, Hypothyroidism ORPHA:870
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance ORPHA:90153
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98855
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity OMIM:600122
Dysbetalipoproteinemia
Hypothyroidism, Obesity, Diabetes mellitus ORPHA:412
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity, Abnormal dental enamel morphology ORPHA:2180
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Carpenter Syndrome
Umbilical hernia, Obesity ORPHA:65759
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity, Streak ovary OMIM:194072
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
X-Linked Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion due to contractures ... ORPHA:98853
X-Linked Non-Syndromic Intellectual Disability
Obesity, Small for gestational age ORPHA:777
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus, Precocious puberty OMIM:619269
Necrotizing Enterocolitis
Hyperglycemia, Abnormal glucose homeostasis, Small for gestational age ORPHA:391673
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Truncal obesity ORPHA:284180
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity OMIM:615418
Peripartum Cardiomyopathy
Obesity, Diabetes mellitus, Abnormality of thyroid physiology ORPHA:563
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Overweight, Obesity, Small for gestational age ORPHA:26793
Ring Chromosome Y Syndrome
Streak ovary, Obesity, Male hypogonadism ORPHA:261529
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Obesity OMIM:615873
Momo Syndrome
Large for gestational age, Tall stature, Obesity, Overgrowth ORPHA:2563
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Umbilical hernia, Obesity, Proportionate tall stature ORPHA:404443
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Flexion contracture, Premature pubarche, Central hypothyroidism, Failure t... ORPHA:398069
19P13.12 Microdeletion Syndrome
Hypothyroidism, Obesity, Arthrogryposis multiplex congenita, Precocious puberty ORPHA:254346
Prader-Willi Syndrome
Small pituitary gland, Premature pubarche, Central hypothyroidism, Decreased circulating gonadotr... ORPHA:739
Joubert Syndrome 37
Obesity OMIM:619185
Bardet-Biedl Syndrome 17
Obesity, Hypogonadism OMIM:615994
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Failure to thrive, Obesity OMIM:612938
Smith-Magenis Syndrome
Hypothyroidism, Failure to thrive in infancy, Obesity, Precocious puberty, Delayed puberty ORPHA:819
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with diffuse goiter, Graves disease... ORPHA:79102
Radio-Tartaglia Syndrome
Obesity, Precocious puberty OMIM:619312
Borjeson-Forssman-Lehmann Syndrome
Hypogonadism, Camptodactyly of toe, Truncal obesity ORPHA:127
Rett Syndrome
Failure to thrive, Increased serum leptin ORPHA:778
Bardet-Biedl Syndrome
Obesity, Hypogonadism, Hypoplasia of the ovary ORPHA:110
Cushing Disease
Pituitary corticotropic cell adenoma, Increased urinary cortisol level, Dorsocervical fat pad, Tr... ORPHA:96253
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Obesity, Congenital hypothyroidism, Diabetes mellitus, Elevated circula... ORPHA:280651
White-Sutton Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Hypoglycemic seizures OMIM:616364
X-Linked Intellectual Disability, Cabezas Type
Obesity, Inguinal hernia, Cachexia, Camptodactyly of finger, Hypogonadism ORPHA:85293
Congenital Analbuminemia
Lipodystrophy, Obesity, Small for gestational age ORPHA:86816
Kennerknecht Syndrome
Omphalocele, Abdominal obesity OMIM:600908
Carpenter Syndrome 1
Obesity, Omphalocele, Precocious puberty, Umbilical hernia, Camptodactyly, Joint contracture of t... OMIM:201000
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Kyphosis, Hypoalbuminemia OMIM:212065
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Abnormal dental enamel morphology, Delayed puberty ORPHA:251004
Luscan-Lumish Syndrome
Obesity, Overgrowth OMIM:616831
Cohen Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Small for gestational age... OMIM:216550
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Meningioma
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:2495
Man1B1-Cdg
Truncal obesity ORPHA:397941
Desbuquois Dysplasia 1
Obesity OMIM:251450
Steinert Myotonic Dystrophy
Insulin resistance, Hyperinsulinemia, Abnormality of thyroid physiology, Decreased serum testoste... ORPHA:273
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Disproportionate tall stature, Abdominal obesity OMIM:301039
Abetalipoproteinemia
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypoalbuminemia... ORPHA:14
Joubert Syndrome 8
Obesity OMIM:612291
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Weight loss ORPHA:134
Alg12-Cdg
Hyponatremia, Recurrent hypoglycemia, Scoliosis, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, A... ORPHA:478
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia ORPHA:1001
Gaisböck Syndrome
Obesity, Diabetes mellitus, Overweight, Increased circulating renin level ORPHA:90041
Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Enamel hypoplasia, Obesity, Hy... ORPHA:79444
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia, Obesity, Hypoglycemia, Precocious puberty OMIM:301066
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Obesity, Femoral hernia ORPHA:96147
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Flexion contracture, Postprandial hyperglycemia, Arthrogryposis multiplex congenita ORPHA:440713
Turner Syndrome Due To Structural X Chromosome Anomalies
Atypical scarring of skin, Hyperinsulinemia, Failure to thrive in infancy, Hashimoto thyroiditis,... ORPHA:99413
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Decreased body weight, Enamel hypoplasia, Obesity, Overweight OMIM:619229
Turner Syndrome
Atypical scarring of skin, Hyperinsulinemia, Failure to thrive in infancy, Hashimoto thyroiditis,... ORPHA:881
Mosaic Monosomy X
Atypical scarring of skin, Hyperinsulinemia, Failure to thrive in infancy, Hashimoto thyroiditis,... ORPHA:99228
Monosomy X
Atypical scarring of skin, Hyperinsulinemia, Failure to thrive in infancy, Hashimoto thyroiditis,... ORPHA:99226
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Enamel hypoplasia, Type II diabetes mellitus, Truncal obesity OMIM:210720
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Failure to thrive, Flexion contracture, Lipoatrophy OMIM:614008
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Insulin resistance, Severe failure to thrive, Absence of subcutaneous fat, P... ORPHA:740
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Chops Syndrome
Obesity OMIM:616368
Cntnap2-Related Developmental And Epileptic Encephalopathy
Obesity, Precocious puberty ORPHA:163681
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Obesity, Hip contracture OMIM:618493
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Distal Monosomy 12Q
Elbow flexion contracture, Failure to thrive in infancy, Proportionate tall stature, Obesity, Dia... ORPHA:96149
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Ovoid vertebral bodies OMIM:244450
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Pseudohypoparathyroidism Type 1A
Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Enamel hypoplasia, Obesity, Hy... ORPHA:79443
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormality of the hypothalamus-pituitary ax... ORPHA:293987
Mitchell-Riley Syndrome
Hyperglycemia OMIM:615710
Angelman Syndrome
Obesity OMIM:105830
Achondroplasia
Obesity ORPHA:15
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Dend Syndrome
Hyperglycemia ORPHA:79134
Ulnar-Mammary Syndrome
Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty ORPHA:3138
Kleefstra Syndrome 1
Obesity OMIM:610253
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Beckwith-Wiedemann Syndrome
Large for gestational age, Hypothyroidism, Neonatal hypoglycemia, Hypoglycemia, Pseudohypoparathy... ORPHA:116
White-Sutton Syndrome
Inguinal hernia, Obesity, Ventral hernia, Congenital diaphragmatic hernia ORPHA:468678
Angelman Syndrome
Delayed menarche, Obesity, Precocious puberty in females ORPHA:72
Kleefstra Syndrome
Obesity, Hernia ORPHA:261494
Cohen Syndrome
Delayed puberty, Obesity, Failure to thrive in infancy ORPHA:193
3Q29 Microduplication Syndrome
Obesity, Camptodactyly of toe ORPHA:251038
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Obesity OMIM:141750
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight ORPHA:2822
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Congenital diaphragmatic hernia, Inguinal hernia, Failure to thrive, Aplasia of the l... OMIM:600001
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Hypoparathyroidism, Precocious puberty ORPHA:369837
7Q11.23 Microduplication Syndrome
Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:96121
Xylt1-Cdg
Truncal obesity ORPHA:370930
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity