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Gene: Pyy MGI:99924

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
peptide YY
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Pyy 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 Pyy by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... ORPHA:71529
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus, Abnormality of the verte... OMIM:602475
Buschke-Ollendorff Syndrome
Joint stiffness, Connective tissue nevi, Osteopoikilosis, Flexion contracture, Scoliosis OMIM:166700
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Short neck, Osteoporosis, Delayed thelarc... OMIM:616033
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Aggressive behavior ORPHA:329249
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Sclerotic vertebral endplates, Clavicular scle... OMIM:615198
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... OMIM:610489
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin OMIM:617885
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Functioning Gonadotropic Adenoma
Osteopenia, Decreased response to growth hormone stimulation test, Isosexual precocious puberty, ... ORPHA:91348
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder ORPHA:369873
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Osteoporosis, ... ORPHA:398079
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Osteoarthritis, Fasting hy... ORPHA:2298
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Extensor Tendons Of Finger Anomalies
Multiple lipomas, Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellitus, Hyperinsulinemi... ORPHA:276575
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-onset diabetes ... ORPHA:324575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellit... ORPHA:276580
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Premature pubarche, Precocious puberty, Kyphosis, Flexion contracture, Osteoporosis, ... ORPHA:398069
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Facet joint arthrosis,... ORPHA:566943
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity, Type II diabe... ORPHA:3085
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... OMIM:136300
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Tal... ORPHA:3152
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Estrogen Resistance Syndrome
Osteopenia, Increased circulating gonadotropin level, Delayed epiphyseal ossification, Absence of... ORPHA:785
Mccune-Albright Syndrome
Hyperthyroidism, Recurrent fractures, Osteomalacia, Primary hypercortisolism, Precocious puberty,... ORPHA:562
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Thoracolumb... ORPHA:231720
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue loss, Insulin res... ORPHA:528
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age OMIM:240900
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion... ORPHA:90791
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Excessive insulin response t... ORPHA:276556
Short Stature, Dauber-Argente Type
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density OMIM:619489
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... OMIM:122860
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Müllerian Aplasia And Hyperandrogenism
Short neck, Obesity, Increased serum testosterone level ORPHA:247768
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Increase... OMIM:615830
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
X-Linked Intellectual Disability, Van Esch Type
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Increased circulating... ORPHA:163976
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm, Increased serum testosterone level OMIM:618901
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Estrogen Resistance
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... OMIM:615363
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Meningioma
Back pain, Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypog... ORPHA:2495
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... OMIM:615547
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Alg6-Cdg
Puberty and gonadal disorders, Failure to thrive, Scoliosis, Increased circulating androgen conce... ORPHA:79320
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-... ORPHA:263455
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, O... OMIM:614856
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Kyphosis, Abnormality ... ORPHA:2114
Narcolepsy Type 1
Obesity ORPHA:2073
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Lipodystrophy, Hyperlordosis, Spinal rigidity, Insulin resistance, Flexion contractur... OMIM:613327
Osteoporosis
Osteoporosis OMIM:166710
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type II diabetes mellitus OMIM:610947
Complete Androgen Insensitivity Syndrome
Tall stature, Elevated circulating luteinizing hormone level, Increased serum estradiol, Increase... ORPHA:99429
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... ORPHA:2905
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal form of t... ORPHA:93160
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im... OMIM:248370
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... ORPHA:90795
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal dental e... ORPHA:1782
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc... OMIM:607634
X-Linked Intellectual Disability, Cilliers Type
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Increased circulating... ORPHA:163971
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Pituicytoma
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:251623
X-Linked Acrogigantism
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... ORPHA:300373
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Pycnodysostosis
Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Decre... ORPHA:763
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... OMIM:600785
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... ORPHA:363400
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Hypergonadotropic hypogonadism, Smal... ORPHA:2959
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Werner Syndrome
Increased bone mineral density, Lipodystrophy, Lipoatrophy, Joint stiffness, Insulin resistance, ... ORPHA:902
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form... ORPHA:628
Perlman Syndrome
Femoral hernia, Hyperinsulinemia, Inguinal hernia, Tall stature ORPHA:2849
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Ovarian Fibrothecoma
Abnormal circulating hormone concentration, Increased serum testosterone level ORPHA:314478
Summitt Syndrome
Obesity OMIM:272350
47,Xyy Syndrome
Increased circulating gonadotropin level, Tall stature, Increased serum testosterone level ORPHA:8
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Gonadoblastoma
Increased serum testosterone level ORPHA:206484
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... OMIM:620366
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Obesity, Absence of pubertal deve... OMIM:610628
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:79085
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Delayed patellar ossification... ORPHA:163649
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Craniosyn... OMIM:259700
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Unicameral bone cyst, ... ORPHA:79086
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal odontoid process morphology, Kyphoscoliosis, Increased circulating an... ORPHA:2976
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Tall stature, Hypogonadotropic hypogonadism, Precocious pub... ORPHA:90794
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... OMIM:144750
Pseudopseudohypoparathyroidism
Short neck, Osteoporosis, Pseudohypoparathyroidism, Obesity, Enamel hypoplasia OMIM:612463
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c... OMIM:259450
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... OMIM:246200
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Sclerotic vertebral endplates, Recurrent fractures OMIM:611490
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... ORPHA:77297
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Luscan-Lumish Syndrome
Overgrowth, Polyphagia, Obesity, Aggressive behavior OMIM:616831
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, ... ORPHA:3455
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Increased serum estradiol, Increased circulating ... ORPHA:90797
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Advanced ossification of carpal ... OMIM:618363
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Kyphosi... OMIM:239000
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Decreased response to growth hormone stimulation test, Hypergonado... OMIM:606407
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Decreased response to growth hormone stimulation test, Short neck... ORPHA:94089
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Failure to thrive, Osteoporosis, Rickets OMIM:560000
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Pediatric-Onset Graves Disease
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... ORPHA:525731
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum ... OMIM:618187
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Generalized jo... ORPHA:432
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... OMIM:300148
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism ORPHA:261483
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
49,Xyyyy Syndrome
Eunuchoid habitus, Generalized joint laxity, Increased circulating gonadotropin level, Radioulnar... ORPHA:99330
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... ORPHA:77296
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH... OMIM:219090
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Mehmo Syndrome
Diabetes mellitus, Agitation, Obesity ORPHA:85282
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica... OMIM:241530
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypoglycemia, Large for gestational age, Rickets, Glycosuria OMIM:616026
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... OMIM:269700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:264700
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... OMIM:616950
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:277440
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis, Diabetes mellitus, Scoliosis ORPHA:94063
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... ORPHA:79444
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis, Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity OMIM:615980
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short neck, Abnormality of the thyroid gland, Hemivertebrae, Obesity, Abnormal... ORPHA:2234
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... ORPHA:1901
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... ORPHA:72
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Overweight, ... OMIM:616222
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Short ne... ORPHA:2176
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Elevated circulating lute... OMIM:305400
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Prader-Willi Syndrome
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:176270
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... ORPHA:79237
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis, Obesity, Hypogo... ORPHA:3409
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... OMIM:108420
Pseudohypoparathyroidism, Type Ic
Short neck, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudoh... OMIM:612462
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Obesity, Delayed puberty ORPHA:251004
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Osteoporosis, Weight loss, Art... ORPHA:465508
Cln3 Disease
Increased circulating androgen concentration ORPHA:228346
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... OMIM:610475
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Obesity OMIM:615703
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... ORPHA:79443
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Ectopic ossification, Elevated circulating parathyroid hormo... ORPHA:79445
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short neck, Kyphosis, Obesity, Type II diabetes mellitus, Scoliosis, Synostosis ... ORPHA:3191
Pseudohypoparathyroidism, Type Ia
Short neck, Osteoporosis, Pseudohypoparathyroidism, Obesity, Subcutaneous ossification, Elevated ... OMIM:103580
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... OMIM:613388
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... OMIM:219080
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In... ORPHA:79474
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Spinal canal stenosis, Elevated... OMIM:307800
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Scoliosis, Joint hypermobility ORPHA:254531
Fanconi-Bickel Syndrome
Osteopenia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Fasting hypoglycemia, Glycosu... ORPHA:2088
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Delayed puberty... ORPHA:77259
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Scoliosis, Scle... ORPHA:85188
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... ORPHA:157215
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Cystinosis
Nephrogenic diabetes insipidus, Rickets, Delayed puberty, Type I diabetes mellitus, Failure to th... ORPHA:213
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Hyperthyroidism, Osteomalacia, Precocious puberty in fem... ORPHA:249
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity, Oral-pharyngeal dysphagia ORPHA:480907
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits ORPHA:3352
Dysostosis, Stanescu Type
Increased bone mineral density, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyp... ORPHA:1798
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level ORPHA:64739
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive, Polyphagia ORPHA:95427
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Perrault Syndrome 4
Increased circulating gonadotropin level, Osteoporosis, Obesity, Disproportionate tall stature, H... OMIM:615300
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity ORPHA:3077
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... ORPHA:2771
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex ORPHA:85184
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyperlordosis, Kyphosis, Increas... ORPHA:2232
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:478
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior OMIM:617991
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... OMIM:600081
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Small for gestational age, Lipoatrophy, Short neck, Flexion ... OMIM:264090
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Hyperlordosis, Osteopetrosis, Scoliosis, Facial hyperostosis, Spi... ORPHA:2780
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Spinal rigidity, Overweight, Scoliosis, Delayed puberty ORPHA:486815
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
49,Xxxyy Syndrome
Eunuchoid habitus, Increased circulating gonadotropin level, Primary gonadal insufficiency, Male ... ORPHA:261534
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Spinal canal stenosis, Obesity, Advanced ossification of carpal bones, Congeni... OMIM:614613
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Hypogonadotropic hypogonadism, Obesity OMIM:600955
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin... OMIM:600430
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Summitt Syndrome
Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity ORPHA:3210
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis OMIM:126550
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Scoliosis ORPHA:101006
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Elevated circulating follicle stimulating hormon... OMIM:620103
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Nephronophthisis 15
Obesity OMIM:614845
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior OMIM:614202
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... OMIM:615842
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased... OMIM:224300
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Cantu Syndrome
Ovoid vertebral bodies, Short neck, Large for gestational age, Cuboid-shaped vertebral bodies, Os... OMIM:239850
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Trisomy 5P
Obesity ORPHA:1742
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Autoimmune Hypoparathyroidism
Increased bone mineral density, Autoimmune hypoparathyroidism ORPHA:36913
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Celiac Disease, Susceptibility To, 1
Osteoporosis, Thyroiditis, Rickets, Weight loss, Delayed puberty, Type I diabetes mellitus, Ename... OMIM:212750
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Solitary Fibrous Tumor
Low back pain, Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoi... ORPHA:2126
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type... ORPHA:10
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal s... ORPHA:90652
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets OMIM:211600
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... ORPHA:90796
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... ORPHA:3464
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... ORPHA:800
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Pos... OMIM:227810
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Senior-Loken Syndrome 9
Osteopenia, Hypogonadism, Obesity OMIM:616629
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Rickets OMIM:611590
Spermatogenic Failure 28
Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev... OMIM:618086
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Increased bone mineral density, Small for gestational age, Thickened cortex o... OMIM:127000
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... ORPHA:412035
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Precocious puberty, Obesity, Platyspondyly, Scoliosis, Type I diabetes mellitus, Dent... OMIM:619269
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Pycnodysostosis
Increased bone mineral density, Spondylolysis, Osteolytic defects of the distal phalanges of the ... OMIM:265800
Eiken Syndrome
Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Limi... ORPHA:79106
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Short neck, Obesity, Irregular vertebral endplates, Platyspondyly, Delayed ossifica... OMIM:618395
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Parathyroid hyperplasia, Rickets, Elevated circulating parathyroid hormone l... OMIM:612089
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Overgrowth, Umbilical hernia OMIM:618272
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... OMIM:618476
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Scoliosis OMIM:609195
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... ORPHA:404448
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... ORPHA:98855
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Weaver Syndrome
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... OMIM:277590
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... ORPHA:89936
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Weight ... ORPHA:35687
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased circulating parathyroid hormone level, Congenital hypoparathyroidism, Decreased respons... OMIM:241410
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist flexion contracture OMIM:300055
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture... ORPHA:98863
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Elevated circulating follicle ... ORPHA:3044
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... OMIM:618430
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
15Q24 Microdeletion Syndrome
Joint laxity, Small for gestational age, Decreased response to growth hormone stimulation test, C... ORPHA:94065
Fanconi Renotubular Syndrome 3
Rickets, Glycosuria OMIM:615605
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior ORPHA:251028
Desmosterolosis
Increased bone mineral density, Failure to thrive, Osteopetrosis ORPHA:35107
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... OMIM:616030
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Aromatase Deficiency
Osteopenia, Eunuchoid habitus, Hypergonadotropic hypogonadism, Delayed epiphyseal ossification, I... ORPHA:91
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Obesity, Osteosclerosis of ribs, Irregular vertebral endplates, Platyspondy... ORPHA:174
Carpenter Syndrome
Umbilical hernia, Kyphoscoliosis, Obesity, Craniosynostosis ORPHA:65759
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Sanjad-Sakati Syndrome
Hypoparathyroidism, Abnormal dental enamel morphology, Patchy osteosclerosis, Spinal canal stenos... ORPHA:2323
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... ORPHA:98853
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618089
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... ORPHA:71212
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Primary hyperparathyroidism, Osteomalacia, Chondrocalcinosis OMIM:600740
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Cranial hyperostosis, Decreased response to growth hormone stimulation test ORPHA:457240
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... OMIM:602398
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration, Hypoplasia of th... OMIM:614841
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... ORPHA:33364
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Elevated circula... OMIM:273250
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Baralle-Macken Syndrome
Obesity OMIM:619255
Tenorio Syndrome
Osteopenia, Joint laxity, Hypoglycemia, Scoliosis, Hypoinsulinemia OMIM:616260
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... ORPHA:293987
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abnormal temper ta... ORPHA:163681
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... ORPHA:168558
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
Microtriplication 11Q24.1
Obesity, Bruxism ORPHA:289522
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... OMIM:228300
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Camptodactyly of finger, Short neck, Limitation of joint mobility, A... ORPHA:2570
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Rickets OMIM:607765
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Generalized joint laxity, Increased body weight ORPHA:589905
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, G... ORPHA:52901
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit,... ORPHA:3041
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Kyphosis, ... ORPHA:99413
Turner Syndrome
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Kyphosis, ... ORPHA:881
Mosaic Monosomy X
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Kyphosis, ... ORPHA:99228
Monosomy X
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Kyphosis, ... ORPHA:99226
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Glycosuria OMIM:134600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... ORPHA:98794
Desbuquois Dysplasia 1
Joint laxity, Short neck, Hyperlordosis, Kyphosis, Osteoarthritis, Osteoporosis, Advanced ossific... OMIM:251450
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... OMIM:614897
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact... OMIM:301039
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Short neck, Obesity, Overgrowth, Abn... ORPHA:2563
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Aggressive behavior OMIM:620191
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi... ORPHA:284180
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty OMIM:300354
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Tatton-Brown-Rahman Syndrome
Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm ORPHA:404443
Raine Syndrome
Increased bone mineral density, Short neck, Subperiosteal bone formation, Arthrogryposis multiple... OMIM:259775
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity OMIM:619737
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Increased circulating gonadotropin level, Decreased serum estradiol, Male hypogonad... ORPHA:168563
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Aggressive behavior OMIM:619056
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Cervical kyphosis, Type II diabetes mellitus, Short neck ORPHA:401923
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies,... ORPHA:2180
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Short neck, Obesity, Joint hyperflexibility, ... ORPHA:96263
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Glycosuria OMIM:268315
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Wagr Syndrome
Obesity ORPHA:893
Laurence-Moon Syndrome
Obesity OMIM:245800
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... OMIM:614839
19P13.12 Microdeletion Syndrome
Craniosynostosis, Short neck, Precocious puberty, Kyphosis, Obesity, Scoliosis, Arthrogryposis mu... ORPHA:254346
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di... OMIM:619312
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Hypogonadism, Scoliosis, Ar... ORPHA:2671
Rett Syndrome
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... ORPHA:778
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Inguinal hernia, Hypoglycemia, Small for gestational age, Rickets, Redu... OMIM:613658
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism ORPHA:464288
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Decreased body weight, Obesity, Dysphagia ORPHA:589821
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Rickets ORPHA:79303
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Smith-Magenis Syndrome
Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, Self-injurious behavio... ORPHA:819
Cleidocranial Dysplasia 1
Increased bone mineral density, Kyphosis, Increased susceptibility to fractures, Spondylolysis, S... OMIM:119600
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Retinitis Pigmentosa 51
Obesity OMIM:613464
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Truncal obesity, Hypogonadism, Attention deficit hypera... ORPHA:73272
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha... ORPHA:3157
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Atelis Syndrome 2
Kyphosis, Sacral dimple, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight, Scoliosis OMIM:182290
Distal 16P11.2 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ... ORPHA:85293
Carpenter Syndrome 1
Omphalocele, Sacral dimple, Sagittal craniosynostosis, Short neck, Precocious puberty, Spina bifi... OMIM:201000
Gaucher Disease Type 3
Increased bone mineral density, Delayed puberty, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Congenital diaphragmatic hernia, Obesity, Scoliosis, Failure to thrive, Abnorma... ORPHA:261197
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Obesity ORPHA:86816
Congenital Myopathy 9A
Obesity OMIM:618822
Laron Syndrome
Abnormality of the endocrine system, Truncal obesity, Delayed puberty ORPHA:633
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity OMIM:615994
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:1001
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Failure to thrive, Hypogonadism OMIM:201100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Osteoporosis, Increased body weight, Fasting hypoglycemia, Delayed puberty, Failure... ORPHA:264580
Infantile Nephropathic Cystinosis
Failure to thrive, Rickets, Abnormality of thyroid physiology, Glycosuria ORPHA:411629
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619680
Distal Triplication 15Q
Craniosynostosis, Large for gestational age, Kyphosis, Birth length greater than 97th percentile,... ORPHA:314588
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity, Aggressive behavior OMIM:620250
White-Sutton Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Self-injurious beha... OMIM:616364
Occipital Horn Syndrome
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Kyphosis, Ost... ORPHA:198
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity OMIM:615418
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... ORPHA:90790
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints, Platyspondyly ORPHA:50945
Megalencephaly
Truncal obesity ORPHA:2477
Williams Syndrome
Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Abnormality of ... ORPHA:904
1P36 Deletion Syndrome
Camptodactyly of finger, Hypothyroidism, Polyphagia, Obesity, Self-injurious behavior, Hypogonadi... ORPHA:1606
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... ORPHA:251510
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Down Syndrome
Joint laxity, Short neck, Obesity, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism ORPHA:870
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep... OMIM:619229
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Shox-Related Short Stature
Obesity ORPHA:314795
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Ketotic hypoglycemia, Osteoporosis, Increased body weight, Recurrent hypoglycemia, Fasting hypogl... ORPHA:79240
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Osteomalacia, Kyphosis, Rickets, Corneal scarring, Ke... OMIM:309000
Wilson Disease
Back pain, Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure to thrive ORPHA:905
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrop... ORPHA:79318
White-Sutton Syndrome
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... ORPHA:468678
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Sotos Syndrome
Joint laxity, Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Scoliosis, Ne... OMIM:117550
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Sclerosteosis 1
Sclerotic scapulae, Facial palsy secondary to cranial hyperostosis, Overgrowth, Sclerotic vertebr... OMIM:269500
Mullerian Aplasia And Hyperandrogenism
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... OMIM:158330
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures ORPHA:416
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Abnorma... ORPHA:534
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism,... OMIM:607872
Robinow Syndrome
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Hemivertebrae, Scoliosis, Um... ORPHA:97360
Joubert Syndrome 37
Obesity OMIM:619185
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Increased circulating gonadotropin level, Ab... ORPHA:755
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity OMIM:615630
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Abnormal repetitive mannerisms, Se... ORPHA:261494
Alström Syndrome
Thoracic scoliosis, Precocious puberty in females, Decreased response to growth hormone stimulati... ORPHA:64
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Short neck OMIM:300860
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity, Type II diabetes mellitus OMIM:615812
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Osteomalacia, Increased susceptibility to fractures, Weight loss, Glycosuria, Hypop... ORPHA:3337
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Obesity OMIM:105830
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Reduced bone mineral density ORPHA:2720
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Failu... ORPHA:18
Wilson Disease
Hypoparathyroidism, Osteomalacia, Osteoarthritis, Osteoporosis, Glycosuria, Chondrocalcinosis, Jo... OMIM:277900
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity, Craniosynostosis, Short neck ORPHA:251038
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Abnormality of the diencephalon ORPHA:2165
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypogonadism, Obesity ORPHA:110
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Low Phospholipid-Associated Cholelithiasis
Overweight, Diabetes mellitus, Obesity ORPHA:69663
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Diabetes mellitus, Obesity, Hypogonadism, Pathologic fracture OMIM:614231
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Compulsive behaviors OMIM:618443
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Premature adrenarche ORPHA:813
Cystinosis, Nephropathic
Diabetes mellitus, Failure to thrive in infancy, Rickets, Weight loss, Glycosuria, Primary hypoth... OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,... ORPHA:2636
Webb-Dattani Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Adrenocorti... OMIM:615926
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin OMIM:614008
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Familial Hypocalciuric Hypercalcemia
Lipoma, Osteomalacia, Chondrocalcinosis ORPHA:405
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Hemivertebrae, Decreased circulating renin level, Humerorad... OMIM:201750
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Scoliosis, Delayed puberty, Decr... ORPHA:1772
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Faciocardiomelic Syndrome
Osteopenia, Cuboid-shaped vertebral bodies, Thin bony cortex, Large for gestational age OMIM:612731
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... OMIM:616078
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Dysbetalipoproteinemia
Diabetes mellitus, Hypothyroidism, Obesity, Gout ORPHA:412
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac... ORPHA:466950
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Failure to thrive, Recurrent fractures, Secondary hyperparathyroidism ORPHA:2785
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... OMIM:216550
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity, Dysphagia ORPHA:2822
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Truncal obesity, Abdominal obesity, H... OMIM:209900
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... ORPHA:96149
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity ORPHA:26793
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Sclerosis of skull base, Fa... OMIM:269150
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behav... ORPHA:369950
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Precocious puberty, Obesity, Umbilical hernia, Abnormal repetitive mannerisms OMIM:301066
Joubert Syndrome 8
Obesity OMIM:612291
Ulnar-Mammary Syndrome
Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty ORPHA:3138
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Inguinal hernia, Diabetes mellitus, Hypothyroidism OMIM:616541
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... OMIM:241080
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Achondroplasia
Obesity ORPHA:15
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Generalized Pustular Psoriasis
Overweight, Obesity ORPHA:247353
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Failure to thrive, Impulsivity, Aggressive behavior, Overwei... OMIM:619475
Cohen Syndrome
Failure to thrive in infancy, Obesity, Delayed puberty ORPHA:193
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:466943
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Abnormal repetitive mannerisms, Obesity OMIM:618653
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder ORPHA:2637
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density ORPHA:667
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Monosomy 13Q34
Obesity ORPHA:96168
Liver Disease, Severe Congenital
Joint laxity, Inguinal hernia, Abnormal circulating thyroid hormone concentration, Hyperinsulinem... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Retinitis Pigmentosa 74
Obesity OMIM:616562
Gaisböck Syndrome
Diabetes mellitus, Overweight, Obesity, Gout, Increased circulating renin level ORPHA:90041
Carney Complex
Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma,... ORPHA:1359
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestational age ORPHA:125
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Obesity ORPHA:369837
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Chops Syndrome
Obesity OMIM:616368
White-Kernohan Syndrome
Hypothyroidism, Obesity, Attention deficit hyperactivity disorder OMIM:619426
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia ORPHA:48652
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Neutral Lipid Storage Disease With Ichthyosis
Obesity ORPHA:98907
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Obesity,... ORPHA:567
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Adrenal calcification, Osteomalacia, Abnormal calcification of the ... ORPHA:51608
Xylt1-Cdg
Truncal obesity ORPHA:370930
Beckwith-Wiedemann Syndrome
Omphalocele, Adrenocortical cytomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Large f... ORPHA:116
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... ORPHA:529962
Bardet-Biedl Syndrome 20
Male hypogonadism, Obesity OMIM:619471
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia, Weight loss OMIM:619381
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... OMIM:201810
46,Xx Sex Reversal 2
Decreased serum testosterone concentration OMIM:278850
Digeorge Syndrome
Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ... OMIM:188400
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity, Flexion contracture, Limb joint contracture OMIM:301072
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Decreased serum testosterone concentration, Short neck ORPHA:495875
Testicular Agenesis
Increased circulating gonadotropin level, Decreased serum testosterone concentration ORPHA:325124
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... ORPHA:353277
Leukocyte Adhesion Deficiency
Coronal craniosynostosis, Osteomyelitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... ORPHA:740
Hellp Syndrome
Back pain, Increased body weight ORPHA:244242
Neutral Lipid Storage Myopathy
Diabetes mellitus, Obesity, Pineal cyst ORPHA:98908
Rubinstein-Taybi Syndrome 1
Hyperactivity, Small for gestational age, Impulsivity, Premature thelarche, Flexion contracture, ... OMIM:180849
Witteveen-Kolk Syndrome
Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s... OMIM:613406
Myhre Syndrome
Small for gestational age, Obesity, Camptodactyly OMIM:139210
Norrie Disease
Diabetes mellitus, Cachexia, Abnormality of the diencephalon, Scoliosis, Delayed puberty, Failure... ORPHA:649
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test ORPHA:444077
Primrose Syndrome
Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Aggressive beha... OMIM:259050
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Flexion contracture, Obesity, E... OMIM:194050
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity, Pseudohypoparathyroidism OMIM:617157
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Carpenter Syndrome 2
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture OMIM:614976
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hypoplasia of the ovary, Flexion contracture OMIM:619321
Lysinuric Protein Intolerance
Truncal obesity, Failure to thrive OMIM:222700
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repetitive m... OMIM:612474
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Compulsive behaviors, Attention deficit hyperac... ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Hypogonadism, Paroxysmal bursts of laughter, Obesity OMIM:309580
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp... 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 Pyy

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 Pyy.

No publications found that use IMPC mice or data for Pyy.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pyytm208738(L1L2_Pgk_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Pyytm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pyytm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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