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Gene: Wdtc1 MGI:2685541

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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

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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 Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Wdtc1tm1a(KOMP)Wtsi
HOM, Female, WTSI
Wdtc1tm1a(KOMP)Wtsi
HOM, Female, WTSI
Wdtc1tm1a(KOMP)Wtsi
HOM, Female, WTSI
Wdtc1tm1a(KOMP)Wtsi
HOM, Female, WTSI
Wdtc1tm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 70 images

Wdtc1tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Wdtc1tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Wdtc1tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Wdtc1tm1a(KOMP)Wtsi
abnormal retinal pigmentation, HOM, Female, WTSI
Wdtc1tm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI

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, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 ORPHA:140941
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Obesity, Type II dia... ORPHA:71529
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... OMIM:614662
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Overgrowth OMIM:620195
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... OMIM:606762
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... 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, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Obesity, Hyperinsulinemia OMIM:617885
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... ORPHA:280356
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decreased adiponectin level,... ORPHA:79085
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss of subcuta... OMIM:604367
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Mody
Large for gestational age, Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin c... ORPHA:552
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus OMIM:615703
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Insulin resistance, Lipodystrophy, Insulin-resistant diabetes mellitus OMIM:613877
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Diffuse pancreatic islet hype... ORPHA:276575
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Lipodystrophy, Familial Partial, Type 1
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of su... OMIM:608600
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Decreased ... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin resistance... OMIM:612526
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Lipodystrophy, Abdominal obesity OMIM:615980
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... ORPHA:97279
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoketot... ORPHA:276556
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:606176
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Hypogonadism OMIM:615981
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Decrea... ORPHA:435651
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Mandibuloacral Dysplasia
Lipoatrophy, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose ti... ORPHA:2457
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Increased intramuscular fat, Loss of truncal subcutaneous adipose tissue, Loss ... OMIM:151660
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... ORPHA:2298
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Reduced intraab... ORPHA:363400
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Decreased serum leptin, Lipodystrophy, Decreased adiponectin level OMIM:615238
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fas... ORPHA:263455
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Abnormal circulating ho... ORPHA:785
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia, Tall stature ORPHA:2849
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Precocious puberty in females, Failure to thrive, Proportionate tall stature, A... ORPHA:528
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Hypoglycemia, Ma... OMIM:300148
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism OMIM:610628
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618857
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Abdominal obesity, Neonatal hypoglycemia, Anterior hypopituitarism ORPHA:631
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... OMIM:246700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Loss of subcutaneous adipose tissue in limbs, Joint contracture, Lipodystrophy... OMIM:615381
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem... OMIM:246200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hypoglycemia, Small for gest... ORPHA:79237
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Type II diabe... ORPHA:254516
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity, Type II diabetes mellitus, Abnormality of the thyroid gland, Hypogona... ORPHA:2234
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Hypogonadism ORPHA:261483
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Biemond Syndrome Type 2
Delayed puberty, Obesity, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Obesity OMIM:603233
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Hypogonadism, Insulin resistance, Hypoglycemia, Truncal obesity, Small for ges... ORPHA:73272
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... ORPHA:300373
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Familial Multiple Lipomatosis
Insulin resistance, Increased adipose tissue, Overgrowth, Lipodystrophy ORPHA:199276
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance,... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Cellulitis, Lipodystrophy, Insulin res... ORPHA:2348
Temple Syndrome
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Flexion contracture, Overweigh... OMIM:616222
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Knee flexion co... OMIM:214150
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Morm Syndrome
Truncal obesity ORPHA:75858
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Immunodeficiency 61
Obesity OMIM:300310
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Abdominal Obesity-Metabolic Syndrome 3
Abdominal obesity, Hyperglycemia, Type II diabetes mellitus, Truncal obesity OMIM:615812
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism OMIM:615993
Nephronophthisis 15
Obesity OMIM:614845
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Decreased serum leptin, Increased adip... ORPHA:280365
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus ORPHA:2377
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Bardet-Biedl Syndrome 4
Obesity, Hypogonadism OMIM:615982
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Abdominal obesity, Increased circulating gonadotropin level, Small for gestational ... OMIM:300869
Acquired Generalized Lipodystrophy
Generalized lipodystrophy, Hyperinsulinemia, Panniculitis, Insulin resistance, Insulin-resistant ... ORPHA:79086
Bardet-Biedl Syndrome 8
Obesity, Hypogonadism OMIM:615985
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc... ORPHA:3163
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose tissue around t... OMIM:248370
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive ORPHA:79319
Lipodystrophy, Congenital Generalized, Type 1
Tall stature, Hyperinsulinemia, Decreased serum leptin, Reduced subcutaneous adipose tissue, Lipo... OMIM:608594
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hypothyroidism, Obesity, Abnormality of the thyroid gland, D... ORPHA:77296
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Truncal obe... OMIM:618160
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Trisomy 5P
Obesity ORPHA:1742
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Impaired glucose tolerance, Hypothyroid... ORPHA:769
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u... ORPHA:1501
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Increased circulating chylomicron concentration, Increas... OMIM:144650
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Omphalocele, Congenital hypothyroidism, Impaired se... OMIM:614450
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp... OMIM:615830
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mell... OMIM:210740
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity OMIM:301900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Glycosuria, Ketotic hypoglycemia, Failure to thrive, Postprandial hyperglycemia ORPHA:2089
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Silver-Russell Syndrome
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr... ORPHA:813
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Truncal obesity, Small for ges... ORPHA:96184
Lipodystrophy, Congenital Generalized, Type 2
Tall stature, Hyperinsulinemia, Decreased serum leptin, Reduced subcutaneous adipose tissue, Type... OMIM:269700
Laron Syndrome
Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrine system ORPHA:633
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:2233
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Failure to thrive, Flexion contracture, Lipodystrophy, Insulin resistance OMIM:613327
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Werner Syndrome
Lipoatrophy, Thyroid carcinoma, Slender build, Type II diabetes mellitus, Hypogonadism, Lipodystr... ORPHA:902
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circulating follicle stimulat... OMIM:617253
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism ORPHA:177910
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Aromatase Deficiency
Tall stature, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, Type II diabetes mellit... ORPHA:91
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
48,Xxyy Syndrome
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Hypergonadotropic hypogonadism,... ORPHA:10
Summitt Syndrome
Tall stature, Obesity ORPHA:3210
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Obesity, Pituitary adenoma, Abdominal obesity, Increased circulating ... OMIM:219090
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Enamel hypoplasia, Obesity OMIM:612463
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive, Hyperi... ORPHA:71212
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Perrault Syndrome 4
Hypoplasia of the ovary, Obesity, Disproportionate tall stature, Decreased serum estradiol, Incre... OMIM:615300
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Glucose intolerance, Impaired glucose tolerance OMIM:615630
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hypoglycemia, Hyperinsulinemia ORPHA:230
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Hypothyroidism, Insulin resistance, Diabetes mellitus, Truncal obesity OMIM:616541
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism OMIM:601794
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Enamel hypoplasia, Hip contracture, Obesity, Truncal ob... OMIM:618363
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity, Lipoma ORPHA:480907
Potocki-Lupski Syndrome
Scoliosis, Hypocholesterolemia OMIM:610883
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Decreased body weight, Increased circulating renin level,... ORPHA:508
Bardet-Biedl Syndrome 19
Obesity, Hypogonadism OMIM:615996
Pigmented Nodular Adrenocortical Disease, Primary, 2
Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Paradoxi... OMIM:610475
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:363741
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... OMIM:203800
Laurence-Moon Syndrome
Obesity OMIM:245800
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Reduced circulating prolactin concentr... ORPHA:2235
Baralle-Macken Syndrome
Obesity OMIM:619255
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Obesity, Hypogonadism, Abdominal obesity, Insulin resistance, Dia... OMIM:209900
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Rafiq Syndrome
Obesity, Truncal obesity, Flexion contracture OMIM:614202
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Chung-Jansen Syndrome
Obesity OMIM:617991
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Insulin-Like Growth Factor I, Resistance To
Decreased body weight, Reduced subcutaneous adipose tissue, Lipodystrophy, Increased circulating ... OMIM:270450
Prader-Willi Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... OMIM:176270
Schaaf-Yang Syndrome
Camptodactyly, Obesity, Flexion contracture, Hypogonadism, Failure to thrive in infancy, Arthrogr... OMIM:615547
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Congenital Myopathy 9A
Obesity OMIM:618822
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Short neck, Kyphosis OMIM:608776
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Clark-Baraitser Syndrome
Obesity OMIM:617752
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Enamel hypoplasia, Hypo... OMIM:103580
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Puberty and gonadal disorders ORPHA:464282
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity ORPHA:2928
Wagr Syndrome
Obesity ORPHA:893
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Retinitis Pigmentosa 51
Obesity OMIM:613464
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Insulin resistance, Generalized lipodystrophy ORPHA:90154
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98754
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Narcolepsy Type 1
Precocious puberty, Obesity ORPHA:2073
Low Phospholipid-Associated Cholelithiasis
Obesity, Diabetes mellitus, Overweight ORPHA:69663
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Impaired gluc... OMIM:606721
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Obesity, Flexion contracture of toe, Hypogonadism ORPHA:3409
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity OMIM:620439
Hypokalemic Periodic Paralysis
Adrenocortical adenoma, Postprandial hyperglycemia ORPHA:681
Whipple Disease
Hypothyroidism, Insulin resistance, Cachexia ORPHA:3452
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Central hypothyroidism, Absence of pubertal developmen... ORPHA:398079
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98793
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, Joint contra... OMIM:175700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177904
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Failure t... ORPHA:94065
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177901
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Anterior pituitary hypoplasia, Abnormality of the hypothal... ORPHA:3157
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Sheehan Syndrome
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... ORPHA:91355
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Obesity, Abnormality of the endocrine system ORPHA:464288
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity OMIM:618089
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... ORPHA:96182
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity OMIM:608624
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Joubert Syndrome 10
Obesity, Decreased body weight OMIM:300804
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Microtriplication 11Q24.1
Obesity ORPHA:289522
48,Xxxy Syndrome
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes melli... ORPHA:96263
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Megalencephaly
Truncal obesity ORPHA:2477
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... ORPHA:79474
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Insulin resistance, Diabetes mellitus, Small for gestatio... ORPHA:125
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Flexion contracture, Obesity, Male hypogonadism, Wrist flexion contracture OMIM:300055
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperglycemia, Flexion contracture, Hypog... OMIM:609069
Senior-Loken Syndrome 9
Obesity, Hypogonadism OMIM:616629
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... ORPHA:3464
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Hypoglycemia, Hyperglycemia OMIM:615453
Shox-Related Short Stature
Obesity ORPHA:314795
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Obesity ORPHA:3077
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity OMIM:600430
Solitary Fibrous Tumor
Hypoglycemia, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia ORPHA:2126
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit ORPHA:3041
Intellectual Developmental Disorder, X-Linked 12
Truncal obesity, Small for gestational age, Increased body mass index OMIM:300957
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Obesity, Camptodactyly ORPHA:412035
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Gitelman Syndrome
Delayed puberty, Maternal diabetes, Graves disease, Hashimoto thyroiditis, Primary hyperaldostero... ORPHA:358
Dysbetalipoproteinemia
Hypothyroidism, Obesity, Diabetes mellitus ORPHA:412
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Glycosuria, Reduced pancreatic beta cells, Failure to thrive, Hyper... ORPHA:99885
Carpenter Syndrome
Obesity, Umbilical hernia ORPHA:65759
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Failure to thrive, Diabetes mellitu... ORPHA:2088
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Obesity, Neuroendocrine neoplasm, Umbilical hernia ORPHA:404443
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... ORPHA:98855
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Abdominal obesity, Hypogonadism OMIM:300354
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Hypothyroidism, Hyperglycemia, Weight loss, Diabetes mellitus, Hypogonadotrop... ORPHA:465508
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Macrocephaly/Autism Syndrome
Large for gestational age, Obesity, Overgrowth OMIM:605309
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity, Streak ovary OMIM:194072
Maternal Uniparental Disomy Of Chromosome 4
Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decreased LDL cholester... ORPHA:96180
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Obesity, Overweight, Small for gestational age, Hypoketotic hypoglycemia ORPHA:26793
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity OMIM:619269
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... ORPHA:98853
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Umbilical hernia ORPHA:284180
Smith-Magenis Syndrome
Delayed puberty, Precocious puberty, Hypothyroidism, Obesity, Failure to thrive in infancy ORPHA:819
19P13.12 Microdeletion Syndrome
Hypothyroidism, Obesity, Arthrogryposis multiplex congenita, Precocious puberty ORPHA:254346
Ring Chromosome Y Syndrome
Obesity, Streak ovary, Male hypogonadism ORPHA:261529
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Achilles tendon contracture OMIM:615418
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Cole Disease
Hyperglycemia OMIM:615522
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su... OMIM:614098
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... ORPHA:79102
Joubert Syndrome 37
Obesity OMIM:619185
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Obesity, Overgrowth OMIM:620250
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Increased body weight, Central hypothyroidism, Absence... ORPHA:398069
Momo Syndrome
Large for gestational age, Tall stature, Overgrowth, Obesity ORPHA:2563
Cushing Disease
Increased urinary cortisol level, Increased body weight, Impaired glucose tolerance, Adrenal hype... ORPHA:96253
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Luscan-Lumish Syndrome
Obesity, Overgrowth OMIM:616831
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Bardet-Biedl Syndrome 17
Obesity, Hypogonadism OMIM:615994
Carpenter Syndrome 1
Camptodactyly, Omphalocele, Precocious puberty, Obesity, Umbilical hernia, Joint contracture of t... OMIM:201000
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Abdominal obesity, Disproportionate tall stature, Camptodactyly OMIM:301039
Congenital Analbuminemia
Small for gestational age, Obesity, Lipodystrophy ORPHA:86816
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:615926
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hypoglycemic seizures, Obesity, Failure to thrive OMIM:616364
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Cachexia, Camptodactyly of finger, Obesity, Hypogonadism ORPHA:85293
Necrotizing Enterocolitis
Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture OMIM:614008
Man1B1-Cdg
Truncal obesity ORPHA:397941
Alg12-Cdg
Scoliosis, Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Obesity ORPHA:251004
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... ORPHA:2495
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Abetalipoproteinemia
Kyphoscoliosis, Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperb... ORPHA:14
Mitchell-Riley Syndrome
Diabetes mellitus, Hyperglycemia OMIM:615710
Joubert Syndrome 8
Obesity OMIM:612291
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Kyphosis, Hypocholesterolemia OMIM:212065
Rett Syndrome
Increased serum leptin, Failure to thrive ORPHA:778
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Bardet-Biedl Syndrome
Childhood-onset truncal obesity, Impaired fasting glucose, Abnormality of the endocrine system, H... ORPHA:110
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
Desbuquois Dysplasia 1
Obesity OMIM:251450
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Weight loss ORPHA:134
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Umbilical hernia ORPHA:1001
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Femoral hernia, Obesity, Inguinal hernia ORPHA:96147
Gaisböck Syndrome
Increased circulating renin level, Overweight, Diabetes mellitus, Obesity ORPHA:90041
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Overgrowth OMIM:620155
Retinitis Pigmentosa 74
Obesity OMIM:616562
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Obesity ORPHA:261197
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:99413
Turner Syndrome
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:99228
Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... ORPHA:99226
Fliedner-Zweier Syndrome
Obesity OMIM:620511
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Kallmann Syndrome
Delayed puberty, Anterior hypopituitarism, Obesity, Hypogonadotropic hypogonadism, Hypothalamic g... ORPHA:478
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Cohen Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Childhood-onset truncal o... OMIM:216550
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Reduced circulating growth hormone concentration, Obesity, Inguinal hernia, Umbilical hernia OMIM:620654
Isolated Sedoheptulokinase Deficiency
Flexion contracture, Arthrogryposis multiplex congenita, Postprandial hyperglycemia, Inguinal hernia ORPHA:440713
Down Syndrome
Delayed puberty, Obesity, Type II diabetes mellitus, Hyperthyroidism, Umbilical hernia ORPHA:870
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Decreased body weight, Enamel hypoplasia, Obesity, Overweight OMIM:619229
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Dend Syndrome
Hyperglycemia ORPHA:79134
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Reduced subcutaneous adipose tissue, Glycosuria, Failure to thrive, Postpra... OMIM:227810
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Hypoglycemia, Obesity, Umbilical hernia OMIM:301066
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Enamel hypoplasia, Truncal obesity, Type II diabetes mellitus OMIM:210720
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Weight loss ORPHA:251071
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... ORPHA:740
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Ovoid vertebral bodies OMIM:244450
Generalized Pustular Psoriasis
Obesity, Overweight ORPHA:247353
Distal Deletion 12Q
Maturity-onset diabetes of the young, Elbow flexion contracture, Proportionate tall stature, Pitu... ORPHA:96149
Angelman Syndrome
Obesity OMIM:105830
Achondroplasia
Obesity ORPHA:15
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Obesity, Diabetes mellitus, Hypogonadism OMIM:614231
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Angelman Syndrome
Obesity, Delayed menarche, Precocious puberty in females ORPHA:72
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Ulnar-Mammary Syndrome
Delayed puberty, Hernia of the abdominal wall, Obesity, Camptodactyly of finger ORPHA:3138
Kleefstra Syndrome 1
Obesity OMIM:610253
White-Sutton Syndrome
Congenital diaphragmatic hernia, Obesity, Ventral hernia, Inguinal hernia ORPHA:468678
Cohen Syndrome
Delayed puberty, Failure to thrive in infancy, Obesity ORPHA:193
Kleefstra Syndrome
Obesity, Hernia ORPHA:261494
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypoglycemia, Tall stature, ... ORPHA:116
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Glycosuria, ... OMIM:600001
Wagro Syndrome
Obesity OMIM:612469
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight ORPHA:2822
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Dubowitz Syndrome
Hypocholesterolemia, Sacral dimple OMIM:223370
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypogonadot... ORPHA:177907
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypoparathyroidism ORPHA:369837
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Chops Syndrome
Obesity OMIM:616368
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia OMIM:620423
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity ORPHA:444077
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity ORPHA:2637
Xylt1-Cdg
Truncal obesity ORPHA:370930
Bardet-Biedl Syndrome 20
Obesity, Male hypogonadism OMIM:619471
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Inguinal hernia OMIM:614947
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Obesity, Inguinal hernia ORPHA:96121
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Obesity, Failure to thrive ORPHA:369950
Pyruvate Carboxylase Deficiency
Failure to thrive, Hypoglycemia, Hyperglycemia ORPHA:3008
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity ORPHA:466950
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio... ORPHA:1435
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Hypothyroidism, Obesity, Increased circulating gonadotropin level, Streak ovary,... ORPHA:1772
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Failure to thrive, Obesity, Truncal obesit... OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Carney Complex
Thyroid carcinoma, Tall stature, Increased circulating insulin-like growth factor 1 concentration... ORPHA:1359
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ... ORPHA:79318
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Inguinal hernia OMIM:618653
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Abnormal dental enamel morphology, Hypoplasia of the thymus,... ORPHA:567
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Failure to thrive, Hypoglycemia, Hyperglycemia, Recurrent hypoglycemia OMIM:124000
Liver Disease, Severe Congenital
Inguinal hernia, Abnormal circulating thyroid hormone concentration, Failure to thrive, Umbilical... OMIM:619991
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... ORPHA:64
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Decreased body weight, Failure to thrive, Obesity, Overweight OMIM:619475
Myhre Syndrome
Platyspondyly, Short neck, Vertebral fusion, Enlarged vertebral pedicles OMIM:139210
Osteogenesis Imperfecta
Vertebral compression fracture, Abnormal form of the vertebral bodies, Enlarged vertebral pedicle... ORPHA:666
Smith-Lemli-Opitz Syndrome
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Sa... OMIM:270400
Digeorge Syndrome
Inguinal hernia, Hypoplasia of the thymus, Femoral hernia, Hypothyroidism, Obesity, Parathyroid h... OMIM:188400
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Limb joint contracture, Flexion contracture, Truncal obesity OMIM:301072
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Truncal obesity, Pineal cyst ORPHA:529962
Adnp Syndrome
Truncal obesity, Inguinal hernia, Umbilical hernia ORPHA:404448
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Inguinal ... OMIM:613406
Williams-Beuren Syndrome
Glucose intolerance, Inguinal hernia, Hypothyroidism, Early onset of sexual maturation, Obesity, ... OMIM:194050
Ulnar-Mammary Syndrome
Delayed puberty, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contracture, Obesi... OMIM:181450
1P36 Deletion Syndrome
Hypothyroidism, Camptodactyly of finger, Obesity, Failure to thrive, Hypogonadism ORPHA:1606
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Pseudohypoparathyroidism, Failure to thrive, Obesity OMIM:617157
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Williams Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Hypothyroidism, Precocious puberty, Obesity, ... ORPHA:904
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Failure to thrive, Hyperglycemia, Hypoglycemia, Small for gestational age OMIM:220111
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Rubinstein-Taybi Syndrome 1
Premature thelarche, Enamel hypoplasia, Failure to thrive, Flexion contracture, Small for gestati... OMIM:180849
Lysinuric Protein Intolerance
Failure to thrive, Truncal obesity OMIM:222700
Monosomy 22Q13.3
Obesity, Umbilical hernia ORPHA:48652
Scorpion Envenomation
Glycosuria, Hyperglycemia ORPHA:466677
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Abdominal obesity, Flexion contracture OMIM:619321
Carpenter Syndrome 2
Obesity, Knee flexion contracture, Camptodactyly, Umbilical hernia OMIM:614976
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Failure to thrive, Obesity, Keloids ORPHA:353281
Primrose Syndrome
Delayed puberty, Hypergonadotropic hypogonadism, Hypothyroidism, Diabetes mellitus, Hip contractu... OMIM:259050
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly, Congenital hypothyroidism, Hypothyroidism, Camptodactyly of finger, Obesity OMIM:607872
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Failure to thrive, Obesity, Corneal scarring, Keloids ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Failure to thrive, Obesity, Corneal scarring, Keloids ORPHA:353277
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Cornelia De Lange Syndrome
Delayed puberty, Failure to thrive, Truncal obesity, Congenital diaphragmatic hernia ORPHA:199
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Failure to thrive, Truncal obesity, Camptodactyly OMIM:612474
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity, Hypogonadism OMIM:309580
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of 2nd-5th fingers, Omphalocele, ... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Wdtc1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wdtc1.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Wdtc1tm1a(KOMP)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Wdtc1tm1a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Wdtc1tm1a(KOMP)Wtsi Wdtc1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Wdtc1tm1a(KOMP)Wtsi PMC6459510
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Wdtc1tm1a(KOMP)Wtsi PMC5638796
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America (October 2017) Wdtc1tm1a(KOMP)Wtsi PMC5676932
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Wdtc1tm1a(KOMP)Wtsi PMC5827107

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Wdtc1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Wdtc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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