Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
histidine decarboxylase
Synonyms:
Hdc-e,  Hdc-s,  Hdc-c,  L-histidine decarboxylase,  Hdc-a

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Hdc 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.

The table below shows human diseases associated to Hdc by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580

The table below shows human diseases predicted to be associated to Hdc by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Depression, Emotional lability, Attention deficit hyperactivity disorder, Cognitive impairment, D... ORPHA:280397
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Schizophrenia 19
Cognitive impairment OMIM:617629
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased ... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesi... ORPHA:71526
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypo... OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy ORPHA:79084
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Body Mass Index Quantitative Trait Locus 20
Tall stature, Hyperinsulinemia, Obesity OMIM:618406
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gesta... ORPHA:324575
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia, Obesity ORPHA:329249
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity ORPHA:369873
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Kleine-Levin Hibernation Syndrome
Confusion, Polyphagia OMIM:148840
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity OMIM:617885
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Mandibuloacral Dysplasia
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... ORPHA:2457
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Adipose t... ORPHA:528
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Diabetes mellitus, Abdominal obesity OMIM:615980
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Large for... ORPHA:276556
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Perlman Syndrome
Tall stature, Hyperinsulinemia, Femoral hernia, Inguinal hernia ORPHA:2849
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Obesity, Type II diabetes mellitus OMIM:615703
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hyperglycemia, Hyperinsulinemia, Pancreatic islet... OMIM:246200
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Genera... OMIM:608612
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Decreased serum leptin, Diabetic ketoacidosis OMIM:615238
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hypoketotic hypoglycemia, Hyperinsulinemia, Large for gestational age, Pancreatic isl... ORPHA:263455
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ... OMIM:300148
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Flexion contr... OMIM:616222
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Failure to thrive, Truncal obesity ORPHA:261483
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Delayed puberty, Pituitary hypoth... OMIM:614963
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... OMIM:614450
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... OMIM:615830
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... OMIM:615954
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:248370
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Tall stature, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Lipodystro... OMIM:608594
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Obesity, Abnormality of the thyroid gland, Eunuchoid habitus, Type II diabetes mell... ORPHA:2234
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity ORPHA:88643
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus ORPHA:2377
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment ORPHA:309246
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Failure to thrive, Hyperinsulinemia, Lipodystrophy, Flexion contracture OMIM:613327
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Non-Acquired Isolated Growth Hormone Deficiency
Neonatal hypoglycemia, Delayed puberty, Anterior hypopituitarism, Abdominal obesity ORPHA:631
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous... OMIM:269700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
48,Xxyy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal her... ORPHA:10
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... OMIM:618363
Morm Syndrome
Truncal obesity ORPHA:75858
Pseudohypoparathyroidism, Type Ib
Obesity, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:603233
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, Increased circulatin... OMIM:300869
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... OMIM:609734
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Confusion, Delirium, Restlessness, Agitation ORPHA:100924
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Rafiq Syndrome
Obesity, Flexion contracture, Truncal obesity OMIM:614202
Trisomy 5P
Obesity ORPHA:1742
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive ORPHA:79319
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 61
Obesity OMIM:300310
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, Diabe... OMIM:270450
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hypothyroidism, Abnormality of the endocrine system, D... ORPHA:77296
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Nephronophthisis 15
Obesity OMIM:614845
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Insulin-resistant diabetes me... ORPHA:769
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Small for ges... ORPHA:96184
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Camptodactyly, Flexion contracture, Arthrogr... OMIM:615547
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Obesity, Diabetes mellitus OMIM:614613
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity ORPHA:791
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
14Q11.2 Microduplication Syndrome
Obesity, Hypothyroidism ORPHA:261229
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... OMIM:618160
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
15Q24 Microdeletion Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Congenital dia... ORPHA:94065
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... OMIM:103580
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Urban-Rogers-Meyer Syndrome
Hypogonadism, Obesity, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity, Glucose intolerance, Impaired glucose tolerance OMIM:615630
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Chung-Jansen Syndrome
Obesity OMIM:617991
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98855
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Abdominal obes... OMIM:219090
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Laron Syndrome
Truncal obesity, Abnormality of the endocrine system, Delayed puberty, Hypoglycemia ORPHA:633
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l... OMIM:615300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the... ORPHA:280365
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Flexion contracture of digit, Reduced subcutaneous adipose tissue, Truncal obesity ORPHA:3041
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglyce... ORPHA:71212
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Obesity, Male hypogonadism, Flexion contracture OMIM:300055
Baralle-Macken Syndrome
Obesity OMIM:619255
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Prader-Willi Syndrome
Precocious puberty, Class III obesity, Failure to thrive in infancy, Decreased response to growth... OMIM:176270
Clark-Baraitser Syndrome
Obesity OMIM:617752
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
13Q12.3 Microdeletion Syndrome
Camptodactyly, Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:412035
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Failure to thrive OMIM:602579
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98853
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age ORPHA:86816
Carpenter Syndrome
Obesity, Umbilical hernia ORPHA:65759
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
48,Xxxy Syndrome
Hypogonadism, Abnormal dental enamel morphology, Obesity, Tall stature, Type II diabetes mellitus... ORPHA:96263
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity OMIM:601794
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Narcolepsy Type 1
Precocious puberty, Obesity ORPHA:2073
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Failure to thrive, Hypoglycemia, Hypogonadism, Truncal obesity, Small for ges... ORPHA:73272
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Obesity, Hypothala... ORPHA:2235
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Obesity, Neuroendocrine neoplasm, Umbilical hernia ORPHA:404443
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Central diabetes insipi... ORPHA:280195
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper... OMIM:203800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism ORPHA:464288
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Umbilical hernia ORPHA:284180
Coach Syndrome 3
Anemia, Molar tooth sign on MRI OMIM:619113
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Atypical Werner Syndrome
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Fai... ORPHA:79474
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Microtriplication 11Q24.1
Obesity ORPHA:289522
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity OMIM:620439
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity OMIM:618089
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Wagr Syndrome
Obesity ORPHA:893
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Achilles tendon contracture OMIM:615418
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Hypothyroidism, Neut... OMIM:618849
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Joubert Syndrome 10
Obesity, Decreased body weight OMIM:300804
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure ... ORPHA:398079
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity OMIM:615812
Joubert Syndrome 33
Splenomegaly, Molar tooth sign on MRI OMIM:617767
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Cornelia De Lange Syndrome 5
Hypogonadism, Truncal obesity OMIM:300882
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Retinitis Pigmentosa 51
Obesity OMIM:613464
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177901
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity, Elevated circulating parathyroid hormone level ORPHA:439822
Laurence-Moon Syndrome
Obesity OMIM:245800
Chromosome 2Q37 Deletion Syndrome
Obesity, Hypothyroidism OMIM:600430
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
19P13.12 Microdeletion Syndrome
Precocious puberty, Obesity, Hypothyroidism, Arthrogryposis multiplex congenita ORPHA:254346
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Septo-Optic Dysplasia Spectrum
Obesity, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnormality of the... ORPHA:3157
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Meckel Syndrome 13
Molar tooth sign on MRI OMIM:617562
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Joubert Syndrome 30
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617622
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Delayed puberty, Abdominal obesity OMIM:300354
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Diabetes mellitus ORPHA:69663
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Disproportionate tall stature, Abdominal obesity OMIM:301039
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Increased body mass index OMIM:300957
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Obesity, Inguinal hernia, Cachexia ORPHA:85293
Borjeson-Forssman-Lehmann Syndrome
Hypogonadism, Camptodactyly of toe, Truncal obesity ORPHA:127
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Megalencephaly
Truncal obesity ORPHA:2477
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Carpenter Syndrome 1
Precocious puberty, Joint contracture of the hand, Umbilical hernia, Obesity, Omphalocele, Campto... OMIM:201000
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity OMIM:618430
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Type I diabetes mellitus, Obesity OMIM:619269
Chromosome 16P13.3 Deletion Syndrome, Proximal
Obesity, Failure to thrive OMIM:610543
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Shox-Related Short Stature
Obesity ORPHA:314795
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Congenital Myopathy 9A
Obesity OMIM:618822
Joubert Syndrome 7
Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
Smith-Magenis Syndrome
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Delayed puberty ORPHA:819
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Inguinal hernia, Hypothyroidism, Truncal obesity, Diabetes mellitus OMIM:616541
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Molar tooth sign on MRI OMIM:608629
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Joubert Syndrome 18
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614815
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Central hypothyroidism, Failure to thrive, Hypogonadis... ORPHA:398069
Proximal 16P11.2 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:261197
Joubert Syndrome 16
Molar tooth sign on MRI OMIM:614465
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Delayed puberty ORPHA:251004
2Q37 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1001
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Ring Chromosome Y Syndrome
Obesity, Streak ovary, Male hypogonadism ORPHA:261529
Kleefstra Syndrome Due To 9Q34 Microdeletion
Obesity, Inguinal hernia, Femoral hernia, Failure to thrive ORPHA:96147
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
White-Sutton Syndrome
Hypoglycemic seizures, Obesity, Congenital diaphragmatic hernia, Failure to thrive OMIM:616364
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... OMIM:300835
Joubert Syndrome 37
Obesity OMIM:619185
Bardet-Biedl Syndrome 1
Insulin resistance, Hypogonadism, Obesity, Nephrogenic diabetes insipidus, Truncal obesity, Abdom... OMIM:209900
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Slc35A2-Cdg
Abnormal midbrain morphology, Precocious puberty, Elevated circulating thyroid-stimulating hormon... ORPHA:356961
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Peripartum Cardiomyopathy
Obesity, Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Eunuchoid habitus, Type II diabetes mellitus, Hypergon... ORPHA:91
Adiposis Dolorosa
Obesity, Hypothyroidism ORPHA:36397
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity, Streak ovary OMIM:194072
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Neuroblastoma
Anemia, Elevated circulating catecholamine level, Thrombocytopenia ORPHA:635
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Overweight, Obesity, Small for gestational age ORPHA:26793
Dysbetalipoproteinemia
Obesity, Hypothyroidism, Diabetes mellitus ORPHA:412
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Momo Syndrome
Tall stature, Obesity, Large for gestational age, Overgrowth ORPHA:2563
Atelis Syndrome 2
Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentration OMIM:620185
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Obesity, Hip contracture OMIM:618493
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:610688
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Obesity, Umbilical hernia, Inguinal hernia, Reduced circulating growth hormone concentration OMIM:620654
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Den Hoed-De Boer-Voisin Syndrome
Obesity, Decreased body weight, Amelogenesis imperfecta, Enamel hypoplasia, Overweight OMIM:619229
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Turner Syndrome Due To Structural X Chromosome Anomalies
Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, T... ORPHA:99413
Turner Syndrome
Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, T... ORPHA:881
Mosaic Monosomy X
Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, T... ORPHA:99228
Monosomy X
Atypical scarring of skin, Failure to thrive in infancy, Hyperinsulinemia, Glucose intolerance, T... ORPHA:99226
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Man1B1-Cdg
Truncal obesity ORPHA:397941
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestatio... ORPHA:125
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Adrenocorticotropic hormone defic... OMIM:615926
Down Syndrome
Umbilical hernia, Obesity, Type II diabetes mellitus, Delayed puberty, Hyperthyroidism ORPHA:870
Ulnar-Mammary Syndrome
Hernia of the abdominal wall, Obesity, Delayed puberty, Camptodactyly of finger ORPHA:3138
Joubert Syndrome 22
Molar tooth sign on MRI OMIM:615665
Joubert Syndrome 32
Molar tooth sign on MRI OMIM:617757
Desbuquois Dysplasia 1
Obesity OMIM:251450
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin OMIM:614008
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Kleefstra Syndrome
Hernia, Obesity ORPHA:261494
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
White-Sutton Syndrome
Ventral hernia, Obesity, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:468678
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Type II diabetes mellitus, Truncal obesity, Enamel hypoplasia OMIM:210720
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Obesity, Hypoglycemia, Umbilical hernia OMIM:301066
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Cohen Syndrome
Decreased response to growth hormone stimulation test, Childhood-onset truncal obesity, Delayed p... OMIM:216550
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Fliedner-Zweier Syndrome
Obesity OMIM:620511
Rabin-Pappas Syndrome
Failure to thrive in infancy, Overgrowth, Obesity OMIM:620155
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Obesity, Hypogonadotropic hypogonadism, D... ORPHA:478
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperthyroidism, Thyrotoxicosis... ORPHA:79102
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Distal Deletion 12Q
Pituitary adenoma, Maturity-onset diabetes of the young, Failure to thrive in infancy, Elbow flex... ORPHA:96149
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology, Neu... ORPHA:79139
Steinert Myotonic Dystrophy
Insulin resistance, Male hypogonadism, Decreased response to growth hormone stimulation test, Dec... ORPHA:273
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Inguinal hernia OMIM:614947
Achondroplasia
Obesity ORPHA:15
Angelman Syndrome
Delayed menarche, Obesity, Precocious puberty in females ORPHA:72
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Failure to thrive, Corneal scarring, Decreased resting energy expenditure, Achilles tendon contra... ORPHA:404454
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Angelman Syndrome
Obesity OMIM:105830
Gaisböck Syndrome
Obesity, Overweight, Diabetes mellitus, Increased circulating renin level ORPHA:90041
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Cohen Syndrome
Failure to thrive in infancy, Obesity, Delayed puberty ORPHA:193
Joubert Syndrome 8
Obesity OMIM:612291
Kleefstra Syndrome 1
Obesity OMIM:610253
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Beckwith-Wiedemann Syndrome
Hypoglycemia, Umbilical hernia, Tall stature, Adrenocortical cytomegaly, Obesity, Large for gesta... ORPHA:116
Generalized Pustular Psoriasis
Obesity, Overweight ORPHA:247353
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Hypogonadism, Obesity, Diabetes mellitus OMIM:614231
7Q11.23 Microduplication Syndrome
Obesity, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:96121
Kabuki Syndrome
Precocious puberty, Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:2322
Wagro Syndrome
Obesity OMIM:612469
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Inguinal hernia OMIM:618653
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Increased red blood cell count, Abnormal medulla oblongata morpholo... ORPHA:68
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight ORPHA:2822
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Obesity, An... ORPHA:177907
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Polycythemia, Adrenal pheochromocytoma, Pancreatic isle... ORPHA:892
Joubert Syndrome 2
Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cerebellar peduncle, Thicken... OMIM:608091
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Follicular thyroid carcinoma, Increased circul... ORPHA:1359
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Obesity, Precocious puberty ORPHA:369837
Rett Syndrome
Increased serum leptin, Failure to thrive ORPHA:778
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity ORPHA:2637
Chops Syndrome
Obesity OMIM:616368
Joubert Syndrome With Renal Defect
Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:220497
Coach Syndrome 1
Splenomegaly, Molar tooth sign on MRI OMIM:216360
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Meckel Syndrome, Type 10
Molar tooth sign on MRI OMIM:614175
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Obesity, Failure to thrive ORPHA:369950
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Limb joint contracture, Flexion contracture, Truncal obesity OMIM:301072
22Q11.2 Deletion Syndrome
Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, Inguinal hernia,... ORPHA:567
Xylt1-Cdg
Truncal obesity ORPHA:370930
Joubert Syndrome 14
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:614424
Joubert Syndrome With Ocular Defect
Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:220493
Retinitis Pigmentosa 74
Obesity OMIM:616562
Bardet-Biedl Syndrome 20
Obesity, Male hypogonadism OMIM:619471
Pmm2-Cdg
Insulin resistance, Elevated circulating thyroid-stimulating hormone concentration, Failure to th... ORPHA:79318
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity ORPHA:466950
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Pineal cyst, T... OMIM:615873
Liver Disease, Severe Congenital
Failure to thrive, Umbilical hernia, Inguinal hernia, Hyperinsulinemic hypoglycemia, Abnormal cir... OMIM:619991
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio... ORPHA:1435
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Obesity, Streak ovary, Hypothyroidism, Delayed pubert... ORPHA:1772
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Agenesis of corpus callosum ORPHA:314621
Adnp Syndrome
Inguinal hernia, Truncal obesity, Umbilical hernia ORPHA:404448
Joubert Syndrome 1
Brainstem dysplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Hypoplasia ... OMIM:213300
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... OMIM:619476
Digeorge Syndrome
Parathyroid hypoplasia, Umbilical hernia, Obesity, Inguinal hernia, Parathyroid agenesis, Hypopla... OMIM:188400
Bardet-Biedl Syndrome
Insulin resistance, Hypogonadism, Obesity, Impaired fasting glucose, Type II diabetes mellitus, C... ORPHA:110
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:619306
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity, Hypothyroidism ORPHA:444077
Myhre Syndrome
Camptodactyly, Obesity, Small for gestational age OMIM:139210
White-Kernohan Syndrome
Obesity, Hypothyroidism OMIM:619426
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Alström Syndrome
Insulin resistance, Precocious puberty in females, Elevated circulating thyroid-stimulating hormo... ORPHA:64
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem ORPHA:444072
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Colpocephaly, Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Molar tooth s... ORPHA:397715
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Failure to thrive, Obesity, Decreased body weight, Delayed puberty, Overweight OMIM:619475
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Elbow flexion contracture, Obesity, Inguinal hernia, Delayed puberty... OMIM:181450
Joubert Syndrome With Oculorenal Defect
Abnormality of the hypothalamus-pituitary axis, Molar tooth sign on MRI ORPHA:2318
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... ORPHA:353281
Meckel Syndrome, Type 4
Molar tooth sign on MRI OMIM:611134
Monosomy 22Q13.3
Obesity, Umbilical hernia ORPHA:48652
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Obesity, Type II diabetes mellitus, Congen... OMIM:613406
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
1P36 Deletion Syndrome