Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
alkB homolog 7
Synonyms:
Abh7,  Spata11,  2510008E23Rik,  2310045B01Rik

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 Alkbh7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Alkbh7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Excessive insulin... ORPHA:324575
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ... ORPHA:276580
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic... ORPHA:276556
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... ORPHA:293964
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Cholestasis, Decreased response to growth hormone stimu... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Cholestasis, Decreased response to growth hormone stimu... ORPHA:71526
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hyper... ORPHA:280356
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly... ORPHA:79084
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hepatic steatosis, ... ORPHA:363400
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Congestive heart failure, Decreased HDL cholesterol concentration, Obesity, I... OMIM:615703
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus OMIM:608320
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Hepatic steatosis, Reduced subcutaneous adipose tissue,... ORPHA:280365
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Congenital Glucokinase-Related Hyperinsulinism
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Abnormal circulating ... ORPHA:79299
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Glucose intolerance, Hy... ORPHA:369873
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circ... ORPHA:263458
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... ORPHA:263455
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H... ORPHA:528
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis, Polyphagia, Overgrowth OMIM:620195
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... OMIM:606762
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia OMIM:240800
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia... OMIM:617885
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity, Tall stature, Hyperinsulinemia OMIM:618406
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hypergalactosemia, Hepatosplenomegaly, Hyperinsulinemia, Hyperch... ORPHA:79237
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Difficulty walking, Inability to walk, Obesity, Decreased respon... OMIM:300148
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity, Aggressive behavior, Hyperactivity, Ataxia OMIM:620270
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h... ORPHA:35878
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Cardiomyopathy, Abnormal circulating lip... ORPHA:79086
Perlman Syndrome
Abnormal pancreas morphology, Tall stature, Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Femo... ORPHA:2849
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Atrial fibrillation, Elevated circulating hepatic transaminase concentration,... OMIM:613327
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi... ORPHA:552
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbilical hernia, Tall s... OMIM:608594
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, Obesity, Bicuspid aortic valve, Atrial septal defect, Diabe... OMIM:615981
Obesity
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio OMIM:601665
Lipodystrophy, Congenital Generalized, Type 2
Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Reduced subcutaneou... OMIM:269700
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Failure to thrive, Decreased live... ORPHA:79319
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Inguinal hernia, Bi... ORPHA:3191
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, Hyperglycemia, Hyp... OMIM:246200
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Mehmo Syndrome
Obesity, Diabetes mellitus, Agitation ORPHA:85282
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Decreased adipo... OMIM:608612
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... OMIM:608709
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... OMIM:616222
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hepatic steatosi... OMIM:612526
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Hypoglyce... OMIM:251110
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Atrial septal... ORPHA:26793
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract... OMIM:248370
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis, Ataxia ORPHA:2377
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Obesity, Ataxia, Waddling gait OMIM:616756
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Congestive hear... OMIM:212140
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hypogonadism, Obesity, Partial atrioventricular canal defect, Hepatic ste... OMIM:615996
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cirrhosis, Hyperinsulinemi... OMIM:602579
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Elbow flexion contracture, Ventricu... ORPHA:98855
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficienc... OMIM:609734
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome... OMIM:203800
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypertension, Hypothyroidism, Hyperchol... ORPHA:77296
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Obesity, Hypoalbuminemia ORPHA:88643
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Elbow flexion contracture, Hypertro... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Tip-toe gait, Elbow flexion contracture, Hypertro... ORPHA:98853
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Type I... OMIM:618620
48,Xxyy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal her... ORPHA:10
Rabson-Mendenhall Syndrome
Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant... ORPHA:769
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity ORPHA:300305
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... ORPHA:42
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Tip-toe gait, Elbow flexion contracture, Hypertrophic cardiomyopathy, Obe... ORPHA:98863
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Glucose intolerance, Splenomegaly, Ventr... OMIM:615630
Bangstad Syndrome
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... ORPHA:1227
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc... ORPHA:785
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyperaldosteron... ORPHA:189427
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... OMIM:600955
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... ORPHA:860
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Abdominal obesity, Prolonged neonatal jaundice, Neonatal hypoglycemia, Anterior ... ORPHA:631
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Obesity, Xanthelasma, Increased LDL cholesterol concentr... ORPHA:412
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Failure to thrive, Truncal obesity ORPHA:261483
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Congestive heart failure, Obesi... ORPHA:3077
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Congestive heart failure, Hypertrophic cardiomyopathy, A... OMIM:229300
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Tachycardia, Obesity, Hypergonadotropic hypogonadism OMIM:619737
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Prader-Willi Syndrome
Precocious puberty, Self-injurious behavior, Class III obesity, Decreased HDL cholesterol concent... OMIM:176270
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Abnormal circulating lipid concentration, Reduced subcutaneous adipose ... ORPHA:1979
Schaaf-Yang Syndrome
Inability to walk, Failure to thrive in infancy, Obesity, Hypogonadism, Polyphagia, Skin-picking,... OMIM:615547
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Arrhythmia, Hypothyr... OMIM:600430
Narcolepsy Type 1
Precocious puberty, Obesity, Restless legs, Attention deficit hyperactivity disorder, Syncope, Re... ORPHA:2073
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Shuffling gait, Male hypogonadism, Bruxism, Obesity, Wrist flexion contracture, Ataxia, Spastic g... OMIM:300055
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Patent foramen ovale, Decreased body weight, Ventricular sep... OMIM:270450
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypera... ORPHA:508
Bardet-Biedl Syndrome 9
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity OMIM:615986
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Truncal ... ORPHA:96184
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo... OMIM:600649
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity, Oral-pharyngeal dysphagia ORPHA:480907
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Obesity, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Symptomatic Form Of Hfe-Related Hemochromatosis
Hyperglycemia, Arrhythmia, Cirrhosis, Weight loss, Elevated jugular venous pressure, Hepatomegaly... ORPHA:465508
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... OMIM:615812
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
19P13.12 Microdeletion Syndrome
Precocious puberty, Aortic regurgitation, Self-injurious behavior, Obesity, Hyperlipidemia, Hepat... ORPHA:254346
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Obesity, Abnormality of the thyroid gland, Type II diabetes mellitus, Eunuchoid hab... ORPHA:2234
Laron Syndrome
Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality of the endocrin... ORPHA:633
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Umbilical hernia, Tricuspid regurgitation, Obesity, Mitral regurgitation... ORPHA:404443
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, A... ORPHA:73272
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Insulin resistance, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... ORPHA:230
Rafiq Syndrome
Obesity, Aggressive behavior, Truncal obesity, Ataxia, Flexion contracture OMIM:614202
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Bulimia, Obesity, Mitral regurgitation, Pulmonary arterial hypertension, Ov... OMIM:614651
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Obesity, Diabetes mellitus, Hyperactivity OMIM:614613
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomega... OMIM:614702
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu... OMIM:219090
Blue Diaper Syndrome
Elevated circulating hepatic transaminase concentration, Increased proinsulin:insulin ratio, Elev... ORPHA:94086
Estrogen Resistance
Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Increased circulating osteocalc... OMIM:615363
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Impulsivity OMIM:617991
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Difficulty walking, Puberty and gonadal disorders, Obesity, Ataxia, Unsteady gait, Waddling gait ORPHA:464282
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Spastic Paraplegia 11, Autosomal Recessive
Tip-toe gait, Obesity, Ataxia, Spastic gait, Dysphagia OMIM:604360
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, Polyphagia ORPHA:177910
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Broad-based gait, Obesity ORPHA:171829
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... OMIM:615830
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Broad-based gait, Dilated cardiomyopathy, Abnormal circulating lipid concentr... OMIM:616541
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmetria, Vitr... OMIM:620185
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Obesity, Elevated circulating creatine kinase concentration, Left ve... OMIM:615418
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Obesity, Decreased body weight, First degree atrioventricular block, Hyperac... ORPHA:589821
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphal... OMIM:614450
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ve... OMIM:601005
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus, Lipoatrophy, Abnormal circulating lipid concentration ORPHA:2833
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Centra... ORPHA:398079
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
White-Sutton Syndrome
Self-injurious behavior, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Overfriendl... OMIM:616364
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Mitral v... ORPHA:2183
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Loss of ambulation, Unsteady gait, Obesity, Ataxia OMIM:618124
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Generaliz... ORPHA:79474
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Obesity, Dysmetria, Left ventricular hypertrophy, Gait disturbance, Unsteady gait ORPHA:93952
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Patent ductus arteriosus, Umbilical hernia ORPHA:171839
Microtriplication 11Q24.1
Bruxism, Obesity, Hyperlipidemia ORPHA:289522
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Gait disturbance, Truncal obesity, Camptodactyly of finger ORPHA:2928
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Mitral valve prolapse ORPHA:2233
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Joubert Syndrome 10
Obesity, Frequent temper tantrums, Dysmetria, Decreased body weight, Polyphagia OMIM:300804
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
Clark-Baraitser Syndrome
Aggressive behavior, Obesity, Hyperactivity OMIM:617752
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype... OMIM:201475
Overlap Myositis
Elevated circulating hepatic transaminase concentration, Abnormal circulating lipid concentration... ORPHA:206572
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Gait ata... ORPHA:255210
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Incr... ORPHA:890
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Hypogonadism, Obesity, Gait imbalance, Biliary tract abnorm... OMIM:209900
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringi... ORPHA:163681
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Truncal obesity ORPHA:2429
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity, Abnormal heart morphology ORPHA:254525
48,Xxxy Syndrome
Pulmonary embolism, Abnormal dental enamel morphology, Hypogonadism, Obesity, Tall stature, Type ... ORPHA:96263
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Flexion contracture of digit, Reduced subcutaneous adipose tissue, Dysmetria, Self-... ORPHA:3041
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Trisomy 5P
Obesity ORPHA:1742
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Situs inversus totalis OMIM:615985
Rett Syndrome
Failure to thrive, Difficulty walking, Inability to walk, Increased serum leptin, Bruxism, Cholec... ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... OMIM:618363
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Congestiv... OMIM:620609
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity, Aggressive behavior, Ataxia, Pica, Abnormal circulating acylcarnitine concentration OMIM:620191
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Obesity, Hypocalcemia, Pseudoh... OMIM:603233
Monosomy 13Q34
Insulin resistance, Hematochezia, Epistaxis, Obesity, Hepatic steatosis, Common atrium, Hypercalc... ORPHA:96168
Smith-Magenis Syndrome
Precocious puberty, Self-injurious behavior, Failure to thrive in infancy, Obesity, Attention def... ORPHA:819
Baralle-Macken Syndrome
Inability to walk, Obesity OMIM:619255
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Obesity, Gait imbalance, Abnormal eating behavior, Inappropriate laughter, Recu... ORPHA:411511
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Central hypothyroidism, Fail... ORPHA:398069
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Obesity, Atrioventricul... ORPHA:251071
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Atrial septal defect, Umbilical hernia ORPHA:1035
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behaviors, Motor st... OMIM:618430
Carpenter Syndrome
Obesity, Patent ductus arteriosus, Polysplenia, Umbilical hernia ORPHA:65759
15Q24 Microdeletion Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Abnormal heart morpholo... ORPHA:94065
Radio-Tartaglia Syndrome
Precocious puberty, Obesity, Gait imbalance, Ventricular septal defect, Aggressive behavior, Atte... OMIM:619312
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hyperglycinemia, Hyperammonemia, ... OMIM:251100
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Hypercalcemia, Polyphagia, Delayed puberty, Increased... ORPHA:251004
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, Increased circulatin... OMIM:300869
Gaisböck Syndrome
Elevated diastolic blood pressure, Obesity, Cholecystitis, Hyperuricemia, Hypertension, Hypovolem... ORPHA:90041
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Cystathioninemia, Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Hy... OMIM:277400
Carpenter Syndrome 1
Precocious puberty, Joint contracture of the hand, Polysplenia, Umbilical hernia, Tetralogy of Fa... OMIM:201000
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Steinert Myotonic Dystrophy
Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive trait, Prolonged PR interval, S... ORPHA:273
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Kennedy Disease
Testicular atrophy, Gait disturbance, Type II diabetes mellitus, Abnormal circulating lipid conce... ORPHA:481
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Gait ataxia, Aggressive behavior, Delayed puberty, Hyperactivity, Abdominal obesity OMIM:300354
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypogonadism, Hypocalcemic tet... OMIM:103580
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hyperactivity ORPHA:397973
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Cirrhosis, Elevated ju... ORPHA:57777
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Aromatase Deficiency
Insulin resistance, Tall stature, Obesity, Hyperlipidemia, Eunuchoid habitus, Hepatic steatosis, ... ORPHA:91
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Obesity, Gait imbalance, Abnormal eating behavior, Inappropriate laughter, Recu... ORPHA:98794
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Abnormal heart morphology, Obesity, Congenital diaphragmatic hernia, Abnormal ... ORPHA:261197
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Mitral regurgitation, Ventricular septal defect, Aggressive behavior, Attention deficit hyperacti... OMIM:301039
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Bardet-Biedl Syndrome 21
Obesity, Elevated circulating hepatic transaminase concentration, Overweight OMIM:617406
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity, Hyperactivity OMIM:618089
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity, Patent foramen ovale OMIM:618821
Angelman Syndrome
Self-injurious behavior, Broad-based gait, Precocious puberty in females, Inability to walk, Dela... ORPHA:72
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnorm... ORPHA:3157
Silver-Russell Syndrome
Premature adrenarche, Precocious puberty, Insulin resistance, Recurrent hypoglycemia, Failure to ... ORPHA:813
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,... ORPHA:99228
Monosomy X
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Bicuspid aortic valve, Cirrhosis,... ORPHA:99226
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity OMIM:301013
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Self-mutilation, Hyperactivity, Camp... ORPHA:412035
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase... OMIM:614921
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Ataxia-Oculomotor Apraxia Type 4
Obesity, Ataxia ORPHA:459033
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Hepatosplenomegaly, Obesity, ... OMIM:301066
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Second degree atrioventricular ... ORPHA:79102
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Gait ataxia, Hypoplasia of the ovary, Increased circulating g... OMIM:615300
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenoma, Maturity-onset dia... ORPHA:96149
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... ORPHA:3464
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Ascites, Hyperbilirubinemia, Reduce... OMIM:606812
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... ORPHA:66529
Idiopathic Intracranial Hypertension
Lethargy, Obesity ORPHA:238624
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Urban-Rogers-Meyer Syndrome
Hypogonadism, Obesity, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Obesity, Ataxia, Hepatomegaly, Unsteady gait, Compulsive behaviors OMIM:618443
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... ORPHA:79240
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism ORPHA:464288
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Hypotension, Obesity, Elevated circulating parathyroid hormone... ORPHA:439822
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... ORPHA:209902
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity OMIM:600151
Cornelia De Lange Syndrome 5
Hypogonadism, Truncal obesity OMIM:300882
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Camptodactyly of finger, Hypogonadism, Obesity, Inguinal hernia, Aggressive beh... ORPHA:85293
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Obesity, Hypogonadism OMIM:616629
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity, Hypomethioninemia, Lethargy, Spastic ataxia, Hyperho... OMIM:277410
Den Hoed-De Boer-Voisin Syndrome
Inability to walk, Obesity, Decreased body weight, Stereotypical hand wringing, Ventricular septa... OMIM:619229
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Chromosome 16P13.3 Deletion Syndrome, Proximal
Hypoplastic left heart, Obesity, Failure to thrive, Polysplenia OMIM:610543
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Umbilical hernia, Obesity, Inguinal hernia, Ventricular septal defect, B... OMIM:620654
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, ... OMIM:616026
Laurence-Moon Syndrome
Obesity, Ataxia OMIM:245800
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity, Situs inversus totalis, Dextrocardia OMIM:615994
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Failure to thrive, Tetralogy of Fallot, Obesity, Con... ORPHA:96147
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Aggressive behavior, Obesity OMIM:619056
Kleefstra Syndrome
Self-injurious behavior, Tetralogy of Fallot, Obesity, Self-mutilation, Ventricular septal defect... ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Self-injurious behavior, Obesity, Congenital diaphragmatic hernia, Dysmetr... ORPHA:96121
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Truncal obesity, Umbil... ORPHA:284180
Beckwith-Wiedemann Syndrome
Tall stature, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemi... ORPHA:116
Macrocephaly/Autism Syndrome
Obesity, Large for gestational age, Splenomegaly, Overgrowth, Hepatomegaly OMIM:605309
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... ORPHA:79444
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Small for gestational age, Truncal obesity, Increased body mass index OMIM:300957
Wagr Syndrome
Obesity ORPHA:893
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Hyperuricemia ORPHA:261222
Man1B1-Cdg
Polyphagia, Broad-based gait, Truncal obesity ORPHA:397941
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co... OMIM:616267
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... ORPHA:79443
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Down Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... ORPHA:870
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... ORPHA:1329
Alström Syndrome
Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me... ORPHA:64
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Meningioma
Increased circulating prolactin concentration, Difficulty walking, Neoplasm of the posterior pitu... ORPHA:2495
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Elevated circulating hepatic transaminase concentr... ORPHA:293987
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity disor... ORPHA:1001
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Inguinal hernia, Wolff-Parkinson-White syndrome, Shortened PR interval, Ventricular sept... OMIM:614947
Fliedner-Zweier Syndrome
Self-injurious behavior, Obesity, Ventricular septal defect, Aggressive behavior, Bicuspid aortic... OMIM:620511
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Capillary fragility, Adre... ORPHA:99889
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... OMIM:602782
Megalencephaly
Atrial septal defect, Truncal obesity ORPHA:2477
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
White-Sutton Syndrome
Self-injurious behavior, Abnormal heart morphology, Obesity, Inguinal hernia, Congenital diaphrag... ORPHA:468678
Angelman Syndrome
Broad-based gait, Obesity, Progressive gait ataxia, Hyperactivity, Ataxia, Paroxysmal bursts of l... OMIM:105830
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Aggressive behavior, Obesity, Overgrowth OMIM:620250
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Retinitis Pigmentosa 51
Obesity OMIM:613464
Luscan-Lumish Syndrome
Polyphagia, Obesity, Aggressive behavior, Overgrowth OMIM:616831
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity OMIM:601794
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Hypertension, Agitation OMIM:612469
Congenital Myopathy 9A
Akinesia, Obesity OMIM:618822
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Obesity, Hypothala... ORPHA:2235
Alopecia Universalis
Type I diabetes mellitus, Abnormality of the thyroid gland, Hypertension, Abnormal circulating li... ORPHA:701
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Ab... ORPHA:177907
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... OMIM:618160
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity, Ataxia OMIM:612291
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Restrictive cardiomyopathy, Abnormal heart morphology, Obesity, Atrial septal... ORPHA:369837
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Hyperbilirubinemia, Hepatic steatosis, Decreased body weight, Ventricular septa... OMIM:619475
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Hypertensi... OMIM:614008
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Congestive heart failur... ORPHA:247353
Adiposis Dolorosa
Telangiectasia of the skin, Obesity, Hypothyroidism ORPHA:36397
Proteasome-Associated Autoinflammatory Syndrome 1
Arrhythmia, Flexion contracture of finger, Elevated circulating C-reactive protein concentration,... OMIM:256040
Marbach-Schaaf Neurodevelopmental Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Recurrent hand flapping OMIM:619680
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ca... ORPHA:110
Kleefstra Syndrome 1
Obesity, Conotruncal defect, Aggressive behavior, Compulsive behaviors, Motor stereotypy OMIM:610253
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Obesity, Gait disturbance, Orthostatic hypotension, Ataxia, Overweight, Dysphagia ORPHA:2822
1P36 Deletion Syndrome
Self-injurious behavior, Dilated cardiomyopathy, Annular pancreas, Failure to thrive, Camptodacty... ORPHA:1606
Williams Syndrome
Type II diabetes mellitus, Mitral regurgitation, Overfriendliness, Ventricular septal defect, Mit... ORPHA:904
Desbuquois Dysplasia 1
Obesity, Waddling gait OMIM:251450
Shox-Related Short Stature
Obesity ORPHA:314795
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Failure to thrive, Obesity, Mitral valve prolapse, Abnormality of the pineal gl... ORPHA:369950
Bloom Syndrome
Insulin resistance, Adipose tissue loss, Telangiectasia, Abdominal obesity, Diabetes mellitus, Sm... ORPHA:125
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Inability to walk, Elbow flexion contracture, Obesity, Hip contracture, Unsteady gait OMIM:618493
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus OMIM:619269
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating growth horm... ORPHA:79318
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Ataxia ORPHA:31
Metaphyseal Chondrodysplasia, Schmid Type
Obesity, Waddling gait ORPHA:174
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Hypogl... ORPHA:137675
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Bruxism, Obesity, Abnor... OMIM:615873
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Chops Syndrome
Obesity, Splenomegaly, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus,... OMIM:616368
22Q11.2 Deletion Syndrome
Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Patent ductus arteriosus, Ch... ORPHA:567
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Increased HDL cholesterol concentration, Congestiv... ORPHA:70591
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Ring Chromosome Y Syndrome
Obesity, Streak ovary, Male hypogonadism ORPHA:261529
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Obesity, Hypogonadotropic hypogonadism, G... ORPHA:478
Ulnar-Mammary Syndrome
Camptodactyly of finger, Obesity, Ventricular septal defect, Hernia of the abdominal wall, Arrhyt... ORPHA:3138
Rabin-Pappas Syndrome
Failure to thrive in infancy, Obesity, Hyponatremia, Overgrowth, Retinal telangiectasia OMIM:620155
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Hyperglycemia, O... ORPHA:444077
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Self-injurious behavior, Keloids, Failure to thrive, Abnormal fear-induced... ORPHA:353281
Livedoid Vasculopathy
Graves disease, Abnormal circulating lipid concentration, Atrophic scars, Ischemic stroke, Hypert... ORPHA:542643
Cohen Syndrome
Decreased response to growth hormone stimulation test, Mitral valve prolapse, Childhood-onset tru... OMIM:216550
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Attention deficit hyperactivity disorder, Atrial septal defect, Truncal obesi... ORPHA:2637
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic gait, Obesity, Tip-toe gait OMIM:617296
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Type II diabetes mellitus, Enamel hypoplasia, Truncal obesity OMIM:210720
Momo Syndrome
Tall stature, Obesity, Large for gestational age, Overgrowth ORPHA:2563
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Muscular subvalvular aortic stenosis, Congestive heart f... OMIM:601992
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Adrenocorticotropic hormone defic... OMIM:615926
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Micronodular cirrhosis, Ascites, Splenomegaly, Limb joint contracture, Truncal o... OMIM:301072
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Obesity, Inguinal hernia, Patent foramen ovale, Heart murmur, Motor stereotypy OMIM:618653
Williams-Beuren Syndrome
Mitral regurgitation, Obsessive-compulsive trait, Ventricular septal defect, Mitral valve prolaps... OMIM:194050
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Tetralogy of Fallot, Obesity, Splenomeg... OMIM:188400
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Pa... OMIM:306955
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated circulating hepatic transaminase concentration, Hypogonadism, Obesity, Jaundice, Diabete... OMIM:614231
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... ORPHA:186
Cohen Syndrome
Failure to thrive in infancy, Obesity, Mitral valve prolapse, Ventricular septal defect, Delayed ... ORPHA:193
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Aggressive behavior, Pineal cyst, Truncal obesity, Prolonged QT int... ORPHA:529962
Myhre Syndrome
Aortic valve stenosis, Obesity, Pericardial effusion, Ventricular septal defect, Patent ductus ar... OMIM:139210
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Bardet-Biedl Syndrome 20
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Obesity, Pancreatitis... OMIM:619471
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity, Streak ovary OMIM:194072
Momo Syndrome
Overgrowth, Obesity OMIM:157980
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity, Ventricular septal defect ORPHA:251038
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Obesity, Gait at... ORPHA:1435
Intellectual Developmental Disorder, Autosomal Dominant 29
Self-injurious behavior, Frequent temper tantrums, Obesity, Aggressive behavior, Attention defici... OMIM:616078
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Achondroplasia
Obesity ORPHA:15
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Camptodactyly of finger, Tetralog... OMIM:607872
Diamond-Blackfan Anemia 21
Aortic regurgitation, Obesity, Secundum atrial septal defect OMIM:620072
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical c... OMIM:130650
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Self-injurious behavior, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:466950
Lysinuric Protein Intolerance
Failure to thrive, Increased circulating ferritin concentration, Pulmonary hemorrhage, Splenomega... OMIM:222700
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Self-injurious behavior, Keloids, Failure to thrive, Abnormal fear-induced... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Self-injurious behavior, Keloids, Failure to thrive, Abnormal fear-induced... ORPHA:353277
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Increased circulating insulin-like growth fact... ORPHA:1359
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati... ORPHA:77293
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Polyphagi... ORPHA:404448
Rubinstein-Taybi Syndrome 1
Accessory spleen, Hypoplastic left heart, Keloids, Failure to thrive, Self-mutilation, Ventricula... OMIM:180849
Fabry Disease
Mitral regurgitation, Arrhythmia, Anorexia, Hypertrophic cardiomyopathy, Bundle branch block, Abn... ORPHA:324
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Obesity, Streak ovary, Bicuspid aortic valve, Hypothy... ORPHA:1772
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:466943
Bardet-Biedl Syndrome 12
Abdominal mass, Obesity, Hypogonadism OMIM:615989
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Abnormal cardiac... ORPHA:2322
Primrose Syndrome
Self-injurious behavior, Glucose intolerance, Hip contracture, Knee flexion contracture, Aggressi... OMIM:259050
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Obesity, Type II diabetes mellitus, Congen... OMIM:613406
Carpenter Syndrome 2
Umbilical hernia, Tricuspid regurgitation, Obesity, Situs inversus totalis, Knee flexion contract... OMIM:614976
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Self-injurious behavior, Failure to thrive, Muscular ventricular septal def... OMIM:612474
White-Kernohan Syndrome
Attention deficit hyperactivity disorder, Obesity, Hypothyroidism OMIM:619426
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Monosomy 22Q13.3
Umbilical hernia, Bruxism, Obesity, Hair-pulling, Hyperactivity ORPHA:48652
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Elbow flexion contracture, Obesity, Inguinal hernia, Ventricular sep... OMIM:181450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Hypoplasia of the ovary, Abdominal obesity, Flexion contracture, Azotemia OMIM:619321
6Q Terminal Deletion Syndrome
Obesity, Gait ataxia, Failure to thrive, Dysmetria ORPHA:75857
Cornelia De Lange Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Ventricular septal defect, Attention deficit ... ORPHA:199
Retinitis Pigmentosa 74
Obesity OMIM:616562
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Failure to thrive, Pseudohypoparathyroidism OMIM:617157
Pallister-Killian Syndrome
Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Umbilical hernia, Inability to walk, Hyp... OMIM:601803
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypogonadism, Obesity, Paroxysmal bursts of laughter, Hyperactivity OMIM:309580

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 Alkbh7

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 Alkbh7.

No publications found that use IMPC mice or data for Alkbh7.

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
Alkbh7tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Alkbh7tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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