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Gene: Hdc MGI:96062

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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:
histidine decarboxylase
Synonyms:
Hdc-e,  Hdc-s,  Hdc-c,  L-histidine decarboxylase,  Hdc-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 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
Aggressive behavior, Phonic tics, Compulsive behaviors, Attention deficit hyperactivity disorder,... 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
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Dementia, Cognitive impairment OMIM:618564
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Schizophrenia 19
Cognitive impairment OMIM:617629
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset t... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... OMIM:601820
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Compulsive behaviors, Attention deficit hyperactivity disorder,... OMIM:137580
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia ORPHA:79084
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure ORPHA:369873
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Obesity OMIM:620195
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... ORPHA:276580
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Kleine-Levin Hibernation Syndrome
Polyphagia, Confusion OMIM:148840
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas... ORPHA:276575
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-r... ORPHA:79085
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... ORPHA:363400
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Lipodystrophy, Abdominal obesity OMIM:615980
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Congenital Generalized Lipodystrophy
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res... ORPHA:528
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Perlman Syndrome
Inguinal hernia, Hyperinsulinemia, Femoral hernia, Tall stature ORPHA:2849
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:151660
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Obesity OMIM:615703
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
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
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... OMIM:246200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... ORPHA:2298
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... ORPHA:263455
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O... OMIM:300148
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Overweight, ... OMIM:616222
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism ORPHA:261483
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Summitt Syndrome
Obesity OMIM:272350
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:248370
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
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
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... ORPHA:79237
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Type II diabetes mellitus, Obesity ORPHA:3191
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Generalized lipodystro... ORPHA:79086
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... OMIM:269700
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, Failure to thrive OMIM:613327
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type... ORPHA:10
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Trisomy 5P
Obesity ORPHA:1742
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity OMIM:614202
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia ORPHA:79319
Nephronophthisis 15
Obesity OMIM:614845
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
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
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... ORPHA:769
Schaaf-Yang Syndrome
Failure to thrive in infancy, Flexion contracture, Obesity, Hypogonadism, Camptodactyly, Arthrogr... OMIM:615547
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Morm Syndrome
Truncal obesity ORPHA:75858
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Urban-Rogers-Meyer Syndrome
Hypogonadism, Flexion contracture of toe, Camptodactyly of finger, Obesity ORPHA:3409
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... OMIM:219090
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Obesity OMIM:615630
Immunodeficiency 61
Obesity OMIM:300310
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98855
Chung-Jansen Syndrome
Obesity OMIM:617991
Laron Syndrome
Abnormality of the endocrine system, Truncal obesity, Hypoglycemia, Delayed puberty ORPHA:633
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit ORPHA:3041
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Flexion contracture, Wrist flexion contracture, Obesity OMIM:300055
Baralle-Macken Syndrome
Obesity OMIM:619255
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Joubert Syndrome 4
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe... OMIM:609583
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98863
Clark-Baraitser Syndrome
Obesity OMIM:617752
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98853
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Obesity ORPHA:86816
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... ORPHA:71212
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Carpenter Syndrome
Umbilical hernia, Obesity ORPHA:65759
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli... ORPHA:96263
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia OMIM:602579
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... ORPHA:73272
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
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Anterior hypopituitaris... ORPHA:280195
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Ins... ORPHA:79474
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity ORPHA:464288
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Coach Syndrome 3
Molar tooth sign on MRI, Anemia OMIM:619113
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Truncal obesity, Congenital diaphragmatic hernia ORPHA:284180
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Neuroendocrine neoplasm, Proportionate tall stature, Obesity ORPHA:404443
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98754
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Hypothy... OMIM:618849
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Wagr Syndrome
Obesity ORPHA:893
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity OMIM:615418
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Microtriplication 11Q24.1
Obesity ORPHA:289522
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:98793
Down Syndrome
Umbilical hernia, Hypothyroidism, Type II diabetes mellitus, Obesity ORPHA:870
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177904
Joubert Syndrome 33
Molar tooth sign on MRI, Splenomegaly OMIM:617767
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... ORPHA:177901
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, Obesity ORPHA:439822
Laurence-Moon Syndrome
Obesity OMIM:245800
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity OMIM:600430
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Retinitis Pigmentosa 51
Obesity OMIM:613464
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
19P13.12 Microdeletion Syndrome
Precocious puberty, Arthrogryposis multiplex congenita, Hypothyroidism, Obesity ORPHA:254346
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Abnormality of the hypothalamus-pituit... ORPHA:3157
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Meckel Syndrome 13
Molar tooth sign on MRI OMIM:617562
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Hypogonadism, Delayed puberty OMIM:300354
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Low Phospholipid-Associated Cholelithiasis
Overweight, Diabetes mellitus, Obesity ORPHA:69663
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Hypogonadism ORPHA:85293
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, ... ORPHA:96253
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin OMIM:614008
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Megalencephaly
Truncal obesity ORPHA:2477
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Carpenter Syndrome 1
Omphalocele, Precocious puberty, Obesity, Camptodactyly, Umbilical hernia, Joint contracture of t... OMIM:201000
Congenital Myopathy 9A
Obesity OMIM:618822
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity, Camptodactyly OMIM:301039
Shox-Related Short Stature
Obesity ORPHA:314795
Smith-Magenis Syndrome
Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty, Hypothyroidism ORPHA:819
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Hypothyroidism OMIM:616541
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature ORPHA:2563
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Obesity, Dentinogenesis imperfecta, Type I diabetes mellitus OMIM:619269
Joubert Syndrome 7
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia OMIM:611560
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Flexion contra... ORPHA:398069
Joubert Syndrome 16
Molar tooth sign on MRI OMIM:614465
Joubert Syndrome 3
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Lateral ventricle dilatation OMIM:608629
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Joubert Syndrome 18
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614815
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Abnormal dental enamel morphology, Delayed puberty ORPHA:251004
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
White-Sutton Syndrome
Failure to thrive, Hypoglycemic seizures, Obesity, Congenital diaphragmatic hernia OMIM:616364
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Joubert Syndrome 37
Obesity OMIM:619185
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia ORPHA:1001
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Obesity, Truncal obesity, ... OMIM:209900
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Obesity, Type II diabetes ... ORPHA:91
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Slc35A2-Cdg
Abnormal midbrain morphology, Precocious puberty, Elevated circulating thyroid-stimulating hormon... ORPHA:356961
Peripartum Cardiomyopathy
Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypogonadism, Obesity ORPHA:110
8P23.1 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Dysbetalipoproteinemia
Diabetes mellitus, Hypothyroidism, Obesity ORPHA:412
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity, Hypoketotic hypoglycemia ORPHA:26793
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Decreased body weight, Enamel hypoplasia, Amelogenesis imperfecta OMIM:619229
Rett Syndrome
Failure to thrive, Increased serum leptin ORPHA:778
Joubert Syndrome 6
Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo... OMIM:610688
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss ORPHA:2126
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... ORPHA:125
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Man1B1-Cdg
Truncal obesity ORPHA:397941
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Monosomy 13Q34
Insulin resistance, Obesity ORPHA:96168
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
Ulnar-Mammary Syndrome
Obesity, Hernia of the abdominal wall, Camptodactyly of finger, Delayed puberty ORPHA:3138
Joubert Syndrome 30
Molar tooth sign on MRI OMIM:617622
Joubert Syndrome 32
Molar tooth sign on MRI OMIM:617757
Joubert Syndrome 22
Molar tooth sign on MRI OMIM:615665
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Desbuquois Dysplasia 1
Obesity OMIM:251450
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Kleefstra Syndrome
Obesity, Hernia ORPHA:261494
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Umbilical hernia, Hypoglycemia, Obesity OMIM:301066
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... OMIM:216550
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:468678
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D... ORPHA:478
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity OMIM:618443
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Distal Deletion 12Q
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Pituitary ... ORPHA:96149
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Japanese Encephalitis
Neutrophilia, Abnormal substantia nigra morphology, Abnormal midbrain morphology, Abnormal pons m... ORPHA:79139
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Angelman Syndrome
Delayed menarche, Precocious puberty in females, Obesity ORPHA:72
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Angelman Syndrome
Obesity OMIM:105830
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Achilles... ORPHA:404454
Achondroplasia
Obesity ORPHA:15
Gaisböck Syndrome
Overweight, Diabetes mellitus, Increased circulating renin level, Obesity ORPHA:90041
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Kleefstra Syndrome 1
Obesity OMIM:610253
Cohen Syndrome
Failure to thrive in infancy, Obesity, Delayed puberty ORPHA:193
Joubert Syndrome 8
Obesity OMIM:612291
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Tall stature, Congenital d... ORPHA:116
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Generalized Pustular Psoriasis
Overweight, Obesity ORPHA:247353
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... ORPHA:68
7Q11.23 Microduplication Syndrome
Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:96121
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Hypogonadism, Obesity OMIM:614231
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity OMIM:618653
Wagro Syndrome
Obesity OMIM:612469
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Carney Complex
Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma,... ORPHA:1359
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Obesity ORPHA:369837
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Neutral Lipid Storage Myopathy
Diabetes mellitus, Obesity, Pineal cyst ORPHA:98908
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Joubert Syndrome 2
Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Elongated superior cer... OMIM:608091
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity ORPHA:2637
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Joubert Syndrome With Renal Defect
Molar tooth sign on MRI, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosum ORPHA:220497
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Coach Syndrome 1
Molar tooth sign on MRI, Splenomegaly OMIM:216360
Meckel Syndrome, Type 10
Molar tooth sign on MRI OMIM:614175
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Chops Syndrome
Obesity OMIM:616368
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity, Flexion contracture, Limb joint contracture OMIM:301072
Neutral Lipid Storage Disease With Ichthyosis
Obesity ORPHA:98907
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Obesity,... ORPHA:567
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Abnormality of the pineal gland, Obesity ORPHA:369950
Joubert Syndrome 14
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:614424
Joubert Syndrome With Ocular Defect
Molar tooth sign on MRI, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosum ORPHA:220493
Xylt1-Cdg
Truncal obesity ORPHA:370930
Retinitis Pigmentosa 74
Obesity OMIM:616562
Pmm2-Cdg
Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated circulating g... ORPHA:79318
Bardet-Biedl Syndrome 20
Male hypogonadism, Obesity OMIM:619471
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... ORPHA:1772
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pineal cyst, Truncal obesity, Fai... OMIM:615873
Duplication Of The Pituitary Gland
Agenesis of corpus callosum, Abnormal midbrain morphology ORPHA:314621
Liver Disease, Severe Congenital
Inguinal hernia, Abnormal circulating thyroid hormone concentration, Hyperinsulinemic hypoglycemi... OMIM:619991
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... OMIM:619476
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating parathyroid hormone ... OMIM:188400
Adnp Syndrome
Umbilical hernia, Inguinal hernia, Truncal obesity ORPHA:404448
Joubert Syndrome 1
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Elongated superior cer... OMIM:213300
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Molar tooth sign on MRI, Hypoplasia of the brainstem, Accessory spleen OMIM:619306
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation test, Obesity ORPHA:444077
Alström Syndrome
Dorsocervical fat pad, Decreased response to growth hormone stimulation test, Precocious puberty ... ORPHA:64
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Molar tooth sign on MRI, Colpocephaly, Elongated superior cerebellar peduncle, Lateral ventricle ... ORPHA:397715
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
Myhre Syndrome
Small for gestational age, Obesity, Camptodactyly OMIM:139210
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology ORPHA:444072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Overweight, Obesity, Decreased body weight, Failure to thrive, Delayed puberty OMIM:619475
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Abnormality of the hypothalamus-pituitary axis ORPHA:2318
Meckel Syndrome, Type 4
Molar tooth sign on MRI OMIM:611134
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Flexion contracture, Obesity, G... OMIM:194050
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Witteveen-Kolk Syndrome
Inguinal hernia, Small for gestational age, Decreased response to growth hormone stimulation test... OMIM:613406
Monosomy 22Q13.3
Umbilical hernia, Obesity ORPHA:48652
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy, Decreased response to growth hormone stimulation t... ORPHA:529962
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Flexion contracture, Hypoplasia of the ovary OMIM:619321
1P36 Deletion Syndrome
Camptodactyly of finger, Obesity, Hypogonadism, Failure to thrive, Hypothyroidism ORPHA:1606
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Splenomegaly, Face of the giant panda sign, Anemia, Thrombo... OMIM:277900
Arima Syndrome
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia, Anemia OMIM:243910
Rubinstein-Taybi Syndrome 1
Small for gestational age, Premature thelarche, Flexion contracture, Truncal obesity, Keloids, En... OMIM:180849
Carpenter Syndrome 2
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture OMIM:614976
Williams Syndrome
Inguinal hernia, Hypogonadotropic hypogonadism, Abnormal dental enamel morphology, Failure to thr... ORPHA:904
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Pseudohypoparathyroidism, Obesity OMIM:617157
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Obesity, Congenital hypothyroidism, Camptodactyly, Hypothyroidism OMIM:607872
Primrose Syndrome
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Flexion contracture, Knee fle... OMIM:259050
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:277170
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Lateral ventricle dilatation OMIM:619479
Joubert Syndrome 39
Molar tooth sign on MRI OMIM:619562
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Keloids, Failure to thrive, Obesity, Corneal scarring ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Keloids, Failure to thrive, Obesity, Corneal scarring ORPHA:353277
Lysinuric Protein Intolerance
Truncal obesity, Failure to thrive OMIM:222700
Orofaciodigital Syndrome Type 6
Molar tooth sign on MRI ORPHA:2754
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia, Delayed puberty ORPHA:199
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:616546
Meckel Syndrome, Type 1
Accessory spleen, Adrenal hypoplasia, Asplenia, Splenomegaly, Molar tooth sign on MRI, Agenesis o... OMIM:249000
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Failure to thrive, Camptodactyly OMIM:612474
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI OMIM:616300
Joubert Syndrome 5
Molar tooth sign on MRI, Thickened superior cerebellar peduncle OMIM:610188
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypogonadism, Obesity OMIM:309580
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp... OMIM:601803
Orofaciodigital Syndrome Type 14
Molar tooth sign on MRI, Partial agenesis of the corpus callosum ORPHA:434179
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Partial agenesis of the corpus callosum OMIM:615948

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 Hdc

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 Hdc.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Hdctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hdctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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