Gene Summary

Name:
orthopedia homeobox
Synonyms:
N/A

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
preweaning lethality, complete penetrance Otptm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating iron level Otptm1b(EUCOMM)Wtsi HET Early adult 6.64×10-08

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
 Wholemount images heterozygote 100% (2 of 2)
 Wholemount images heterozygote 100% (2 of 2)
 Wholemount images heterozygote 100% (2 of 2)
 Wholemount images heterozygote 100% (2 of 2)
 Wholemount images heterozygote 100% (2 of 2)
 Wholemount images heterozygote 50% (1 of 2)
 Wholemount images heterozygote 100% (2 of 2)
 Wholemount images heterozygote 50% (1 of 2)
 Wholemount images heterozygote 50% (1 of 2)
 Wholemount images heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

7 Images

Human diseases caused by Otp 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 Otp by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Truncal obesity, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity OMIM:614662
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Polyphagia, Type II diabetes mellitus, Increased adipose tissue, Childhood-onse... ORPHA:71529
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesi... OMIM:614963
Pituitary Adenoma, Prolactin-Secreting
Pituitary prolactin cell adenoma, Prolactinoma OMIM:600634
Thyroid Hormone Metabolism, Abnormal
Elevated circulating thyroid-stimulating hormone concentration OMIM:609698
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Tall stature, Increased bone mineral density, Obesity OMIM:618406
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71526
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Diabetes mellitus, Insulin resistance, Abdominal obesity OMIM:615980
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Multiple Symmetric Lipomatosis
Abnormal adipose tissue morphology, Multiple lipomas, Joint stiffness, Insulin resistance ORPHA:2398
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Failure to thrive, Type II diabetes mellitus, ... ORPHA:181393
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Adrenal hypoplasia, Hypothyroidism, Ectopic posterior pituitary, Delayed puberty,... ORPHA:95496
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Dystonia 30
Hypothalamic hamartoma, Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility... OMIM:619291
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary OMIM:613986
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Delayed thelarche, Hyperinsulinemic hypoglycemia, Joint laxity, Delayed puberty, Do... OMIM:616033
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Obesity OMIM:617885
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Camptodactyly, Joint contracture of the hand, Osteopenia, Obesity OMIM:264010
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Obesity OMIM:615703
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Ectopic posterio... ORPHA:67045
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Obesity OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Decreased response to growth hormone stimuation test, Abdominal obesity OMIM:618160
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ... ORPHA:280356
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Lipoatrophy, Insulin resistance ORPHA:79084
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism, Central adr... ORPHA:54595
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Adrenal hypoplasia, Polyphagia, Decreased response to growth hormone stimu... OMIM:609734
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Hydrocephalus, Isosexual precoc... ORPHA:759
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Culler-Jones Syndrome
Cryptorchidism, Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Diab... OMIM:615849
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Lipodystrophy, Insulin-... ORPHA:79085
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired glucose tolera... OMIM:606721
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism, Leukoencephalopathy OMIM:613724
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Cryptorchidism, Premature pubarche, Premature adrenarche, Ventriculomegaly, Ce... ORPHA:398079
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gland, Pitui... ORPHA:97279
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Lipodystrophy, Reduced subcutaneous adipose tissue, Diabetes mellitus, Genera... OMIM:612526
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi... OMIM:619072
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Temple Syndrome
Polyphagia, Obesity, Small for gestational age, Type II diabetes mellitus, Recurrent hypoglycemia... ORPHA:254516
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Increased adipose tissu... ORPHA:435660
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Decreased body weight, Micr... ORPHA:314621
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Finger joint hypermobility, Obesity ORPHA:436141
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Small for gestational age OMIM:619057
Carcinoma Of Esophagus
Dysphagia, Weight loss, Obesity ORPHA:70482
Summitt Syndrome
Obesity OMIM:272350
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Adipose tissue loss, Lipodystrophy, Bone cyst, Precocious p... ORPHA:528
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrophy, Hypoplasia of t... ORPHA:2822
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Overweight, Glucose intolerance, ... ORPHA:552
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Insulin-resistant diabetes me... OMIM:262190
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of ... OMIM:604367
Estrogen Resistance
Glucose intolerance, Osteopenia, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Pituicytoma
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... ORPHA:251623
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance ORPHA:79087
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Estrogen Resistance Syndrome
Osteoporosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Ab... ORPHA:785
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity OMIM:610628
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Central hypot... OMIM:619326
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Cryptorchidism, Premature pubarche, Ventriculomegaly, Central hypothyroidism, ... ORPHA:398069
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:90695
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Diabetes mellitus, Polyphagia OMIM:222100
Immunodeficiency 61
Arthritis, Obesity OMIM:300310
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Supernumerary nipple, Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Obesity, Hypothalamic gonadotropin-r... ORPHA:2235
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... ORPHA:263455
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Reduced subcutaneous... ORPHA:363400
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Obesity OMIM:264120
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Inc... OMIM:608600
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failu... ORPHA:73272
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Obesity, Delayed puberty, Small for gestational age, Decreased r... OMIM:300148
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Insulin resistance, Lipodystrophy, Flexion contracture, Hypogonadism, Diabetes mell... OMIM:615381
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Temple Syndrome
Joint hypermobility, Maturity-onset diabetes of the young, Overweight, Flexion contracture, Trunc... OMIM:616222
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Tall stature, Femoral hernia ORPHA:2849
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... OMIM:617395
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Rafiq Syndrome
Obesity OMIM:614202
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absent septum pellucidum, Abs... ORPHA:95494
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypogonadism, Delayed puberty, Obesity ORPHA:141333
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Hyperinsulinemia, Insulin resistance, Dysphagia, Lipodystrophy, Flexion contracture... OMIM:613327
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypogonadism, Eunuchoid habitus, Obe... ORPHA:2234
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Hydranencephaly, Abnormalit... ORPHA:2570
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Lipodystrophy, Insulin-resistant diabetes mellitus, Loss of gluteal subcu... ORPHA:435651
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testoster... OMIM:618841
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis, Macronodular adrenal hyperplasia, Truncal obesity, Failure to thrive, Diabetes mell... ORPHA:189427
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity ORPHA:88643
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Increased circulating cortisol level, Primary hypercortisolism, Increased body weig... OMIM:615830
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:145650
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Truncal obesity, Failure to thrive ORPHA:261483
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contracture, Failure to th... OMIM:615547
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Joint hyperflexibility, Lipodystrophy, Wei... ORPHA:3163
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Severe f... OMIM:246200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308700
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Joint hypermobility, Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Reduced intraabdominal adipose tissue, Lipo... OMIM:608594
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism, Hydrocephalus OMIM:241800
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Adipose tissue loss, Increased adipose tissue aro... OMIM:151660
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Truncal obesity, Hip contracture, Advanced ossification... OMIM:618363
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, Encephalomalacia, Ab... ORPHA:68
Pancreatic Agenesis 1
Diabetes mellitus, Neonatal insulin-dependent diabetes mellitus, Failure to thrive OMIM:260370
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Obesity OMIM:603233
Semilobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Hydrocephalus, Central hypothyroidism, A... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Hydrocephalus, Central hypothyroidism, A... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Hydrocephalus, Central hypothyroidism, A... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Hydrocephalus, Central hypothyroidism, A... ORPHA:93924
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Failure to thrive, Decreased r... OMIM:606407
Aromatase Deficiency
Osteoporosis, Insulin resistance, Hypergonadotropic hypogonadism, Tall stature, Type II diabetes ... ORPHA:91
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteoporosis, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:98754
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Reduced intraabdominal adipose tissue, Lipo... OMIM:269700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Minimal subcutaneous fat, Increased intraabdominal fat... ORPHA:280365
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteoporosis, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:98793
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss OMIM:275000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteoporosis, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:177904
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity ORPHA:411515
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteoporosis, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:177901
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Failur... ORPHA:79237
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Lipodystrophy, Lipoatrophy, Diabetes mellitus, Loss of subcutaneo... ORPHA:2348
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:613313
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Osteoporosis, Obesity OMIM:612463
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Inguinal hernia, Type II diabetes mellitus, Obesity ORPHA:3191
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Lipoma, Joint hypermobility, Obesity ORPHA:480907
Familial Multiple Lipomatosis
Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland OMIM:614880
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus, Diabetes... ORPHA:79083
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95512
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Insulin resistance, Panniculitis, Insulin-resistant diabetes mellitus, Unicamer... ORPHA:79086
Prader-Willi-Like Syndrome
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:398073
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Joint hypermobility, Maturity-onset diabetes of the young, Truncal obesity, Small for gestational... ORPHA:96184
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Halothane Hepatitis
Obesity OMIM:234350
Retinitis Pigmentosa 71
Obesity OMIM:616394
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Joint hypermobility, Truncal obesity OMIM:268050
16P13.2 Microdeletion Syndrome
Cryptorchidism, Overweight, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Ven... ORPHA:500055
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Werner Syndrome
Slender build, Osteoporosis, Chondrocalcinosis, Insulin resistance, Lipodystrophy, Lipoatrophy, I... ORPHA:902
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Small for g... OMIM:300869
Summitt Syndrome
Camptodactyly of finger, Craniosynostosis, Tall stature, Obesity ORPHA:3210
Bangstad Syndrome
Goiter, Small for gestational age, Primary gonadal insufficiency, Insulin-resistant diabetes mell... OMIM:210740
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Osteoporosis, Decreas... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Osteoporosis, Decreas... OMIM:610489
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity OMIM:301900
Nephronophthisis 15
Obesity OMIM:614845
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Increased circulating androgen concentr... ORPHA:769
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
48,Xxyy Syndrome
Abnormal dental enamel morphology, Radioulnar synostosis, Hypergonadotropic hypogonadism, Joint h... ORPHA:10
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal putamen morphology, Cerebral edema ORPHA:88619
Cog2-Cdg
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... ORPHA:435934
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro... OMIM:614450
Trisomy 5P
Obesity ORPHA:1742
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive OMIM:619046
Prader-Willi Syndrome
Osteoporosis, Hyperinsulinemia, Polyphagia, Decreased response to growth hormone stimuation test,... OMIM:176270
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Laron Syndrome
Hypoglycemia, Truncal obesity, Delayed puberty, Osteoarthritis, Abnormality of the endocrine system ORPHA:633
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Pseudopseudohypoparathyroidism
Ectopic ossification, Obesity ORPHA:79445
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Beta-Mercaptolactate Cysteine Disulfiduria
Joint hyperflexibility, Umbilical hernia, Obesity ORPHA:1035
Prader-Willi Syndrome
Osteoporosis, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small... ORPHA:739
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Failure to thrive, Abnormal basal ganglia MRI signal inte... ORPHA:444013
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Ulnar-Mammary Syndrome
Breast hypoplasia, Axillary apocrine gland hypoplasia, Ectopic posterior pituitary, Anterior pitu... OMIM:181450
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Osteoporosis, Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating p... OMIM:612462
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Failure to thrive in infancy, Cachexia, Recurrent hypog... ORPHA:813
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Bilateral Perisylvian Polymicrogyria
Microcephaly, Perisylvian predominant thick cortex pachygyria, Ectopic posterior pituitary, Bilat... ORPHA:98889
Primary Lipodystrophy
Lipodystrophy, Lipoatrophy, Type II diabetes mellitus, Insulin resistance ORPHA:90970
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Glucose intolerance, Impaired glucose tolerance, Obesity, Increased circulating ACT... OMIM:219090
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Flexion contracture of toe, Recurrent fractures, Hypogonad... ORPHA:3409
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Failure to thrive OMIM:277170
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Intrahepatic Cholestasis Of Pregnancy
Hypothyroidism, Abnormal pineal melatonin secretion, Small for gestational age ORPHA:69665
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Weight loss, Oral-pharyngeal dysphagia ORPHA:399
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Man1B1-Cdg
Joint hypermobility, Truncal obesity, Polyphagia ORPHA:397941
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Abnormal thalamic MRI signal intens... ORPHA:157846
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Polyphagia, Recurrent fractures, Delayed pub... ORPHA:251004
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Lipodystrophy, Decreased body weight, Truncal obesi... OMIM:270450
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Decreased circulating ACTH level, Increased circulating cortisol level, Primary hyp... OMIM:219080
Cushing Disease
Osteoporosis, Lipodystrophy, Recurrent fractures, Truncal obesity, Failure to thrive, Diabetes me... ORPHA:96253
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... ORPHA:525731
Perrault Syndrome 4
Osteoporosis, Increased circulating gonadotropin level, Disproportionate tall stature, Decreased ... OMIM:615300
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Osteoarthritis, Obesity ORPHA:166024
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Osteoporosis, Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating p... OMIM:103580
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland OMIM:612702
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Luscan-Lumish Syndrome
Overgrowth, Advanced ossification of carpal bones, Polyphagia, Obesity OMIM:616831
Chung-Jansen Syndrome
Joint hypermobility, Obesity OMIM:617991
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Clark-Baraitser Syndrome
Obesity OMIM:617752
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Truncal obesity, Inguinal hernia, Diabetes mellitus OMIM:616541
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Bilateral cryptorchidism, Dysplastic corpus callosum, Hyperintensity of cerebral white matter on ... ORPHA:544488
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Impaired glucose tolerance, Glucose intolerance, Obesity OMIM:615630
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Whipple Disease
Insulin resistance, Hypothyroidism, Cachexia, Polydipsia, Arthritis ORPHA:3452
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Spastic Paraplegia 11, Autosomal Recessive
Dysphagia, Obesity OMIM:604360
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Radioulnar synostosis, Umbilical hernia, Obesity ORPHA:171839
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Ventric... ORPHA:2177
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
Combined Oxidative Phosphorylation Defect Type 7
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Failure to thrive, ... ORPHA:254930
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst OMIM:617516
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intensity, Abnormal basa... ORPHA:363558
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Kallmann Syndrome
Cryptorchidism, Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Delaye... ORPHA:478
Clark-Baraitser syndrome
Joint laxity, Tall stature, Obesity OMIM:300602
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dandy-Walker malformation, Abnormal c... ORPHA:397715
Baralle-Macken Syndrome
Obesity OMIM:619255
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Cerebral atrophy, Focal T2 hyperintense thalamic lesi... ORPHA:79264
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Reduced bone mineral density, Insulin resistance OMIM:619322
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Atypical Werner Syndrome
Increased bone mineral density, Delayed puberty, Type II diabetes mellitus, Generalized lipodystr... ORPHA:79474
Microtriplication 11Q24.1
Limitation of joint mobility, Obesity ORPHA:289522
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism, Insulin-resistant diabetes me... ORPHA:2959
Congenital Disorder Of Glycosylation, Type Iit
Microcephaly, Abnormal cerebral white matter morphology, Pineal cyst OMIM:618885
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Decrease... ORPHA:79444
Atkin-Flaitz Syndrome
Joint laxity, Tall stature, Obesity OMIM:300431
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Hypoplasia of the corpus callosum, Abnormality of the pineal gland, Failure to thrive, Obesity ORPHA:369950
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
15Q24 Microdeletion Syndrome
Joint laxity, Decreased response to growth hormone stimuation test, Hernia, Small for gestational... ORPHA:94065
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Hydrocephalus, Ventriculomegaly, Dilat... ORPHA:370959
Rhombencephalosynapsis
Ventriculomegaly, Fusion of the left and right thalami, Septo-optic dysplasia, Hydrocephalus ORPHA:59315
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Impaired... OMIM:617253
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Short Syndrome
Glucose intolerance, Joint laxity, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitu... OMIM:269880
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Hypoglycemia, Glycosuria, Diabetes mellitus, Large for gestational age OMIM:616026
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Decrease... ORPHA:79443
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Pick Disease Of Brain
Polyphagia OMIM:172700
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
48,Xxxy Syndrome
Abnormal dental enamel morphology, Radioulnar synostosis, Joint hyperflexibility, Tall stature, I... ORPHA:96263
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
13Q12.3 Microdeletion Syndrome
Obesity, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia ORPHA:412035
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Secondary microcephaly, Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal... ORPHA:485421
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hypoketotic hypoglyc... ORPHA:71212
Wagr Syndrome
Obesity ORPHA:893
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Joint stiffness, Decreased cervical spine flexion due... ORPHA:98855
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Oral aversion, Insulin resistance, Premature adrenarche, Small for gestatio... ORPHA:96182
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Gitelman Syndrome
Maternal diabetes, Graves disease, Glucose intolerance, Chondrocalcinosis, Insulin resistance, Pr... ORPHA:358
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Polydipsia, Abnormality of ... ORPHA:3157
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Dilated third ventricle, Abnormal cerebral white matter morphology, Cerebral atrophy ORPHA:314404
Rhizomelic Limb Shortening With Dysmorphic Features
Limited shoulder movement, Hyperextensibility of the finger joints, Obesity OMIM:618821
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Flexion contracture of digit, Truncal obesity, Reduced subcutaneous adipose tissue, Hypogonadism,... ORPHA:3041
Frontotemporal Dementia
Polyphagia OMIM:600274
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Secondary Short Bowel Syndrome
Polyphagia, Central hypothyroidism, Weight loss, Failure to thrive, Primary hypothyroidism ORPHA:95427
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Hydrocephalus ORPHA:2720
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hyperpituitaris... ORPHA:91351
Mental Retardation, Autosomal Recessive 13
Truncal obesity OMIM:613192
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity OMIM:618822
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Joint stiffness, Decreased cervical spine flexion due... ORPHA:98863
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Cach Syndrome
T2 hypointense thalamus, Cerebral atrophy, Microcephaly, Premature ovarian insufficiency, Dilatio... ORPHA:135
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Joint stiffness, Decreased cervical spine flexion due... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Joint stiffness, Decreased cervical spine flexion due... ORPHA:98853
Carpenter Syndrome
Craniosynostosis, Umbilical hernia, Obesity ORPHA:65759
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Cryptorchidism, Hypoplasia of the corpus callosum, Anterior pituitary hyp... OMIM:206900
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Hydrocephalus, Enlarged ... ORPHA:91350
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Type I diabetes mellitus, Dentinogenesis imperfecta, Osteopenia, Precocious puberty, Obesity OMIM:619269
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Abnormality of the endocrine system, Obesity ORPHA:464288
Diabetes Insipidus, Neurohypophyseal Type
Central diabetes insipidus OMIM:304900
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Polymi... OMIM:156810
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI ORPHA:1947
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Hypoglycemia, Obesity OMIM:608624
Cornelia De Lange Syndrome 5
Hypogonadism, Limited elbow extension, Truncal obesity OMIM:300882
Basel-Vanagaite-Smirin-Yosef Syndrome