Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ankyrin 2, brain
Synonyms:
Ankyrin-B,  Gm4392,  Ank-2,  ankyrin B,  Ankyrin-2

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 Ank2 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 Ank2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ank2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology ORPHA:2398
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Hypoketotic hypoglycemia, Truncal obesity, Large for gestatio... ORPHA:293964
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... ORPHA:99886
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Lipoatrophy, Hepatomegaly, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... OMIM:604367
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity OMIM:614662
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Large for gestational age, Truncal obesity OMIM:240900
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... ORPHA:79085
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis, Lipoatrophy ORPHA:79087
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... ORPHA:435660
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Spastic gait, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... ORPHA:171706
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Proportionate t... ORPHA:528
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300425
Autism
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608636
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Polymicrogyria, Hypoplasia of the corpus callosum, Par... OMIM:604213
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... ORPHA:324575
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Agenesis of corpus callosum, Macular degeneration, Death in infancy ORPHA:85334
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Lipodystrophy, Elevated hepatic transaminase, Hypertriglycerid... OMIM:615381
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age OMIM:618858
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Dysplastic corpus callosum, Inability to walk, Microcephaly, Motor axo... OMIM:618276
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... ORPHA:500166
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Loss of faci... ORPHA:79083
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Pancreatitis, Cellulitis, Hepatomegaly, Splenomegaly, Lipodystrophy, Hypertriglyceri... ORPHA:2348
Primary Lipodystrophy
Type II diabetes mellitus, Lipoatrophy, Pancreatitis, Hyperlipidemia, Splenomegaly, Cirrhosis, Li... ORPHA:90970
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Lissencephaly 4
Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephaly, Agenesis of corpus c... OMIM:614019
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... ORPHA:79086
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hepatomegaly, Jaundice, Hypoproteinemia, Small for gestational age, Hyperammonemia,... ORPHA:26793
Bowen Syndrome Of Multiple Malformations
Failure to thrive, Death in childhood, Agenesis of corpus callosum, Developmental glaucoma OMIM:211200
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Type II diabetes m... OMIM:151660
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Familial Multiple Lipomatosis
Hyperlipidemia, Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... OMIM:610947
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Flexion contracture, Hyperglycemia, Reduced C-peptide level OMIM:618856
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Lipoatrophy, Pancr... ORPHA:280365
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness OMIM:618221
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Hepatic ... ORPHA:435651
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Congenital Hydrocephalus
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Optic atrophy, Iris coloboma, L... ORPHA:2185
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level OMIM:610768
Mucolipidosis Iv
Cerebral dysmyelination, Corneal opacity, Dysplastic corpus callosum, Retinal degeneration, Micro... OMIM:252650
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated ci... OMIM:613327
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Hyperostosis Frontalis Interna
Increased circulating prolactin concentration, Obesity, Diabetes mellitus OMIM:144800
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... OMIM:611819
Short Syndrome
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... ORPHA:3163
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... OMIM:214150
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... OMIM:246200
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Neonatal hyperbilirubinemia, Small for gestational age, Truncal obesity, Hypog... ORPHA:73272
Growth Factors, Combined Defect Of
Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin-resistant diabetes mellitus, Flexion ... OMIM:233805
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... OMIM:262190
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Abnormal... ORPHA:263455
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... ORPHA:168782
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypophosphatemic rickets, Hypoinsulinemia, Abnormality of the peritoneum, ... ORPHA:2126
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age OMIM:618857
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... OMIM:615830
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Obesity ORPHA:369873
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... ORPHA:453533
Blue Diaper Syndrome
Decreased circulating T4 concentration, Increased body weight, Elevated hepatic transaminase, Ele... ORPHA:94086
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity ORPHA:791
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Polymicrog... ORPHA:300573
Brugada Syndrome 9
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval OMIM:616399
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... ORPHA:2089
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Microcephaly, Neonatal death, Abnormal cortical gyration, Polymicrogyria, Aplasia/Hypoplasia of t... OMIM:619602
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Long Qt Syndrome 14
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... OMIM:616247
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... OMIM:615954
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300495
Autosomal Recessive Spastic Paraplegia Type 66
Impaired vibration sensation in the lower limbs, Hypoplasia of the corpus callosum, Difficulty wa... ORPHA:401815
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Prolonged P wave OMIM:614049
Central Neurocytoma
Ataxia, Pain insensitivity, Hydrocephalus, Cerebral calcification, Paresthesia, Abnormal lateral ... ORPHA:73256
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Seckel Syndrome 10
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... OMIM:617253
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Flexion contracture, Atrial standstill, Palpitations,... ORPHA:1344
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... ORPHA:769
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diab... OMIM:609069
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Short Syndrome
Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu... OMIM:269880
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189427
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Decreased body weight, Optic nerve hypoplasia, Microcephaly, Polymicr... OMIM:614833
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189439
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance ORPHA:90154
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Hypoesthesia, Impaired vibratory sensation, Optic disc pallor, Retrob... OMIM:619737
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Werner Syndrome
Slender build, Type II diabetes mellitus, Lipoatrophy, Thyroid carcinoma, Chondrocalcinosis, Lipo... ORPHA:902
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Decreased body weight, Hypoplasia of the corpus callosum, Corticospinal tract hypoplasia,... ORPHA:255138
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Gait imbalance, Abnormal lateral ventricle morphology, Gait ataxia, Hypoplasia of the corpus call... ORPHA:488635
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai... OMIM:606069
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... ORPHA:2088
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... ORPHA:35878
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Microcephaly, Peripheral axonal neuropathy, Optic disc hypoplasia, Co... OMIM:619955
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Tall stature, Inguinal hernia, Femo... ORPHA:2849
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:144600
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Ataxia, Inability to walk, Cerebral atrophy, Small for gestational age, B... ORPHA:79243
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Eunuchoid habitus, Tall stature, Hypergonadotropic hyp... ORPHA:91
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Increased body weight, Ja... ORPHA:890
Brugada Syndrome 7
Permanent atrial fibrillation, Prolonged P wave, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Small for gestationa... OMIM:606721
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Hyperglycemia OMIM:520000
Monosomy 13Q34
Insulin resistance, Obesity, Hepatic steatosis, Infantile hypercalcemia ORPHA:96168
Bardet-Biedl Syndrome 2
Obesity, Hypogonadism, Diabetes mellitus OMIM:615981
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Abnormal circulating lipid concentration, Truncal obesity, Hypothyroidism, Diabe... OMIM:616541
Silver-Russell Syndrome
Precocious puberty, Cachexia, Hyperhidrosis, Insulin resistance, Recurrent hypoglycemia, Prematur... ORPHA:813
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, Biliary tra... ORPHA:3191
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperinsuline... ORPHA:508
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Hypothyroidism, Congenital, Nongoitrous, 6
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... OMIM:614450
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Gait imbalance, Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cereb... ORPHA:488627
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Testicular atrophy, Cholangiocarcinoma, Decreased s... ORPHA:465508
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice OMIM:234350
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Halperin-Birk Syndrome
Failure to thrive, Inability to walk, Death in childhood, Optic atrophy, Developmental cataract, ... OMIM:618651
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... OMIM:269700
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Failure to thrive, Hypoplasia of the corpus call... OMIM:614924
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Pituitary ... OMIM:614963
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Failure to thrive, Ataxia, Hydrocephalus, Periventricular leukomalacia, Microcephaly, Retinal det... OMIM:619833
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Mpi-Cdg
Failure to thrive, Decreased liver function, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... ORPHA:79319
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Whipple Disease
Hepatomegaly, Splenomegaly, Cachexia, Hypothyroidism, Hyponatremia, Insulin resistance ORPHA:3452
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity, Hyperglycemia OMIM:615986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Retinal dysplasia, Anencephaly, Opacification of the corneal stroma, Cortical dysp... OMIM:615287
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... ORPHA:79326
Hsd10 Disease
Gait disturbance, Ataxia, Choreoathetosis, Abnormal social behavior ORPHA:391417
Bardet-Biedl Syndrome 1
Abdominal obesity, Nephrogenic diabetes insipidus, Truncal obesity, Biliary tract abnormality, He... OMIM:209900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatomegaly, Hepatic failure, Splenomegaly, Cholestasis, Impaired glucose t... OMIM:615630
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Macrosomia Adiposa Congenita
Large for gestational age, Obesity, Eosinophilia OMIM:248100
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Hypogonadotropic hypogonadism, Absence of pubertal development, Diabetes mellitus OMIM:610628
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Glycosuria, Hypoglycemia, Large for gestational age, Elevated hep... OMIM:616026
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglyc... OMIM:175700
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... ORPHA:77296
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Abnormality of the thyroid gland, Eunuchoid habitus, Hypogonadism, Obe... ORPHA:2234
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Optic atrophy, Iris coloboma, Lissencephaly, Ventriculomegaly, Macul... OMIM:615219
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... ORPHA:264580
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Flexion contracture, Decreased serum iron, Hypothyroidism, Diabetes mellitus, ... ORPHA:391372
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior ORPHA:444002
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Central Precocious Puberty
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... ORPHA:759
Fanconi Anemia, Complementation Group I
Decreased body weight, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus callosum, Astigma... OMIM:609053
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Hepatocellula... ORPHA:79240
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Obesity, Decreased circulating cortisol level OMIM:600955
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... ORPHA:230
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum, Peripheral axonal neuropathy, Developmental cataract OMIM:618810
Bangstad Syndrome
Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus, Small for gestational... OMIM:210740
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Dysplastic corpus callosum, Inability to walk, Abnormal cornea morphology, Dilated fourth... ORPHA:357058
Gitelman Syndrome
Neoplasm of the pancreas, Glucose intolerance, Failure to thrive, Type II diabetes mellitus, Grav... ORPHA:358
Dopa-Responsive Dystonia
Inability to walk, Abnormal social behavior, Fatigable weakness, Gait disturbance, Difficulty wal... ORPHA:255
Unilateral Focal Polymicrogyria
Mental deterioration, Abnormal nonverbal communicative behavior, Memory impairment ORPHA:268947
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... OMIM:203800
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Death in childhood, Dysplastic corpus callosum, Failure to thrive OMIM:604273
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Choreo... ORPHA:2524
Autism, Susceptibility To, 3
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608049
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Dysplastic corpus callosum, Death in childhood, Death in infancy, Secondary mi... OMIM:619423
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, H... ORPHA:412
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum OMIM:601016
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Abnormal electrophysiology of sinoatrial node origin, Sinoatrial block OMIM:609438
Bloom Syndrome
Abdominal obesity, Small for gestational age, Adipose tissue loss, Diabetes mellitus, Insulin res... ORPHA:125
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Kapur-Toriello Syndrome
Failure to thrive, Dysplastic corpus callosum, Retinal coloboma, Polymicrogyria, Iris coloboma, P... ORPHA:2328
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Combined Oxidative Phosphorylation Defect Type 39
Loss of ambulation, Cerebral atrophy, Tip-toe gait, Decreased nerve conduction velocity, Microcep... ORPHA:565624
Cach Syndrome
Optic neuritis, Dysgyria, Cerebral atrophy, Dysmetria, Limb ataxia, Microcephaly, Truncal ataxia,... ORPHA:135
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... ORPHA:785
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callo... OMIM:616900
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Inability to walk, Frontal cortical atrophy, Cerebral cortical atrophy, Retinal degenerat... ORPHA:2822
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormal basal ganglia morphology, Inability to walk, Small basal ganglia, Normal pressure hydroc... ORPHA:300570
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Optic disc pallor, Ventriculomeg... ORPHA:420179
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Lateral ventricle dilatation, Thick cerebral cortex ORPHA:101071
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Failure to thrive, Precocious puberty, Decreased response to growth hormone stimulation test, Sma... ORPHA:96182
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Mitchell-Riley Syndrome
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... OMIM:615710
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Tip-toe gait, Dilated third ventricle, Astigmatism, Partial agenesis of the cor... OMIM:617296
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Inguinal hernia, Flexion contracture, Stea... ORPHA:440713
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Necrotizing Enterocolitis
Small for gestational age, Peritonitis, Hyponatremia, Abnormal glucose homeostasis, Hyperglycemia ORPHA:391673
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Lower-limb joint contracture, Glycosuria, Neonatal insulin-dependent diabetes ... ORPHA:99885
X-Linked Acrogigantism
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... ORPHA:300373
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Dementia, Memory impairment, Semantic dementia ORPHA:1020
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Simplified gyral pattern, Microcephaly, Dysplastic corpus callosum, Failure to thrive OMIM:620001
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... ORPHA:681
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... ORPHA:905
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... ORPHA:85451
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Smith-Kingsmore Syndrome
Hypoglycemia, Large for gestational age, Umbilical hernia OMIM:616638
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, V... OMIM:619179
9Q31.1Q31.3 Microdeletion Syndrome
Type II diabetes mellitus, Overweight, Hypercholesterolemia ORPHA:401923
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly OMIM:618619
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Pancreatic Agenesis 1
Failure to thrive, Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitu... OMIM:260370
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Microcephaly, Dilated fourth ventricle, Optic atrophy, Lateral ventric... ORPHA:3078
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Difficulty walking, Shyness ORPHA:280763
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Difficulty walking, Cerebral cortical hemiatrophy ORPHA:306669
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia ORPHA:134
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Lissencephaly, Primary microceph... ORPHA:284417
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT... OMIM:219090
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Ataxia, Cerebral atrophy, Dysmetria, Rod-cone dystrophy, Dilated fourth vent... ORPHA:572798
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... ORPHA:226313
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation, Scissor gait ORPHA:363654
Oculocerebrodental Syndrome
Dysplastic corpus callosum, Developmental cataract, Focal white matter lesions ORPHA:557003
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... OMIM:300888
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Autosomal Dominant Non-Syndromic Intellectual Disability
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Chorea, Hypoplasia of the corpus callosum, A... ORPHA:178469
Slc35A2-Cdg
Inability to walk, Cerebral atrophy, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus c... ORPHA:356961
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Increased LDL... ORPHA:98855
Pyruvate Carboxylase Deficiency
Failure to thrive, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hypera... ORPHA:3008
Atypical Werner Syndrome
Failure to thrive, Hyperinsulinemia, Type II diabetes mellitus, Decreased body weight, Lipoatroph... ORPHA:79474
Resistance To Thyrotropin-Releasing Hormone Syndrome
Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... ORPHA:99832
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... OMIM:603233
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Absent septum pellucidum, Microcephaly, Pigmentary retinopathy, Peters anomaly, Ir... OMIM:309801
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Cushing Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:96253
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Lateral ventricle dilatation ORPHA:77299
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism, Hyperglycemia, Hypercholesterolemia ORPHA:90065
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Enamel hypoplasia, Hypothyroidism, Hypocalcemic t... OMIM:612462
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Abnormal basal ganglia morphology, Subretinal deposits, Open operculum, Dilate... ORPHA:397715
Sotos Syndrome
Glucose intolerance, Tall stature, Overgrowth, Prolonged neonatal jaundice, Neonatal hypoglycemia... OMIM:117550
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Graves disease, Hyperthyroidism, Episodic hypokalemia... ORPHA:79102
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Prolonged ne... ORPHA:226307
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Abnormality of the thyroid gland, Hypercholesterolemia OMIM:182290
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Cholelithiasis, Testicular atrophy, Hyperinsulinemia, Decreased se... ORPHA:273
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Flexion cont... ORPHA:398069
Basel-Vanagaite-Smirin-Yosef Syndrome
Inability to walk, Cerebral atrophy, Cavum septum pellucidum, Microcephaly, Dilated third ventric... ORPHA:464738
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Large for gestational... ORPHA:544488
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Overgrowth, Large for gestational age, Umbilical hernia, Omphalocele ORPHA:254534
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98754
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Small pituit... ORPHA:398079
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Cavum septum pellucidum, Astigmatism, Abnormal cerebral white matter morphology, Lateral ... ORPHA:457279
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:98793
Heart Defects, Congenital, And Other Congenital Anomalies
Failure to thrive, Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Glycosuria,... OMIM:600001
Cerebrofacioarticular Syndrome
Ataxia, Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Ventriculome... ORPHA:314679
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... ORPHA:177901
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Female hypogonadism, Delayed menarche, Pubertal developmental failure i... ORPHA:740
Cushing Syndrome Due To Ectopic Acth Secretion
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... ORPHA:99889
Lamb-Shaffer Syndrome
Ataxia, Abnormal social behavior ORPHA:530983
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Astigmatism, Ventriculomegaly, Colpoce... ORPHA:261250
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly, Agenesis of corp... OMIM:617260
Distal Monosomy 10Q
Facial diplegia, Failure to thrive, Ataxia, Cavum septum pellucidum, Microcephaly, Astigmatism, L... ORPHA:96148
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Hypergo... ORPHA:64
Dend Syndrome
Elevated hemoglobin A1c, Hyperglycemia ORPHA:79134
Khan-Khan-Katsanis Syndrome
Corneal scarring, Failure to thrive, Buphthalmos, Microcephaly, Pigmentary retinopathy, Peters an... OMIM:618460
Septo-Optic Dysplasia Spectrum
Abnormality of the hypothalamus-pituitary axis, Maternal diabetes, Hypohidrosis, Obesity, Anterio... ORPHA:3157
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... ORPHA:293987
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... ORPHA:90041
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Partial agenesis of the corpus callosum, Microcephaly, Dysplastic corpus callosum, Focal polymicr... OMIM:619103
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Microcephaly, Diffuse white matter abnormalities, Hypoplasia of the... ORPHA:208447
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Abnormal caudate nucleus morphology, Hypoplasia of the corpus callosum, Cerebral white matter atr... ORPHA:2148
Metachromatic Leukodystrophy, Adult Form
Progressive psychomotor deterioration, Abnormal social behavior, Memory impairment, Difficulty wa... ORPHA:309271
Pmm2-Cdg
Failure to thrive, Multiple joint contractures, Hyperinsulinemia, Elevated circulating growth hor... ORPHA:79318
Spondyloenchondrodysplasia
Cerebral calcification, Chorea, Abnormal periventricular white matter morphology, Ventriculomegal... ORPHA:1855
Tonne-Kalscheuer Syndrome
Broad-based gait, Shyness OMIM:300978
Prader-Willi Syndrome
Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious... OMIM:176270
Craniopharyngioma
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... ORPHA:54595
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta OMIM:619269
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Cog5-Cdg
Microcephaly, Truncal ataxia, Cerebral white matter atrophy, Diffuse cerebral atrophy, Lateral ve... ORPHA:263487
6Q Terminal Deletion Syndrome
Failure to thrive, Dysmetria, Polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebra... ORPHA:75857
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Progressive psychomotor deterioration, Abnormal social behavior ORPHA:309263
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly ORPHA:363444
Holoprosencephaly 13, X-Linked
Optic nerve hypoplasia, Microcephaly, Septo-optic dysplasia, Colpocephaly, Agenesis of corpus cal... OMIM:301043
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... ORPHA:3464
Mosaic Trisomy 1
Lateral ventricle dilatation, Opacification of the corneal stroma, Agenesis of corpus callosum, P... ORPHA:1692
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Gait ataxia, Progressive gait ataxia, Abnormal social behavior ORPHA:309256
Early-Onset Schizophrenia
Lack of peer relationships, No social interaction, Shyness, Cognitive impairment ORPHA:96369
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
X-Linked Intellectual Disability, Cilliers Type
Shyness ORPHA:163971
Acrodysostosis With Multiple Hormone Resistance
Elevated calcitonin, Hypocalcemia, Decreased response to growth hormone stimulation test, Elevate... ORPHA:280651
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:618569
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Absent septum pellucidum, Polymicrogyria, Astigmatism, Secondary micr... OMIM:618820
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Congenital diaphra... ORPHA:116
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype... ORPHA:99228
Monosomy X
Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Cholestatic liver disease, Hype... ORPHA:99226
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Ataxia ORPHA:369891
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... OMIM:619991
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Scorpion Envenomation
Hypokalemia, Increased circulating NT-proBNP concentration, Elevated circulating aspartate aminot... ORPHA:466677
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Nonprogressive cerebellar ataxia, Memory impairment,... ORPHA:314647
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness OMIM:619293
Smith-Lemli-Opitz Syndrome
Failure to thrive, Hydrocephalus, Hypoplasia of the frontal lobes, Microcephaly, Hypoplasia of th... OMIM:270400
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Poor eye contact, Shyness ORPHA:449291
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Cri-Du-Chat Syndrome
Overfriendliness, Difficulty walking OMIM:123450
Fg Syndrome Type 1
Broad-based gait, Abnormal social behavior ORPHA:93932
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Gait ataxia OMIM:616579
Carney Complex
Abdominal obesity, Increased circulating insulin-like growth factor 1 concentration, Pituitary gr... ORPHA:1359
Zttk Syndrome
Failure to thrive, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Optic atrophy, ... OMIM:617140
Choreoacanthocytosis
Loss of ambulation, Cerebral cortical atrophy, Frontal cortical atrophy, Small basal ganglia, Abn... ORPHA:2388
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive ventriculomegaly, Optic nerve hypoplasia, Polymicrogyria,... ORPHA:500150
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test, Hyperglycemia ORPHA:444077
49,Xxxxy Syndrome
Overfriendliness, Shyness ORPHA:96264
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Thick corpus callosum, Ataxia, Dysplastic corpus callosum, Slender build OMIM:300967
Niemann-Pick Disease Type C
Ataxia, Abnormal social behavior, Mental deterioration, Cognitive impairment, Progressive neurolo... ORPHA:646
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Stellate iris, Microcephaly, Iris hypopigmentation, Lateral ventricle ... ORPHA:177907
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Large basal ganglia, Microcornea, Hypoplasia of the corpus callosum, Polymicro... ORPHA:261552
White-Sutton Syndrome
Overfriendliness, Waddling gait OMIM:616364
Luscan-Lumish Syndrome
Shyness OMIM:616831
White-Kernohan Syndrome
Obesity, Dysplastic corpus callosum OMIM:619426
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Slender build, Failure to thrive, Ataxia, Dysplastic corpus callosum, Hypoplasia of the corpus ca... ORPHA:466791
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Failure to thrive, Inability to walk, Aganglionic megacolon, Large basal gangli... ORPHA:261537
Koolen-De Vries Syndrome
Overfriendliness ORPHA:96169
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Abnormal social behavior ORPHA:1675
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cerebral white matter hypoplasia, Colpocephaly, Hypoplasia of the corpus callosum ORPHA:477993
Trichotillomania
Hair-pulling OMIM:613229
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Small for gestational age, Microcephaly, Anisocoria, Cortical dysplas... OMIM:613406
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal nonverbal communicative behavior ORPHA:485421
Hellp Syndrome
Increased body weight, Elevated hepatic transaminase ORPHA:244242
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Corneal scarring, Failure to thrive, Cataract, Obesity, Abnormal lateral ventricle morphology, Se... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Corneal scarring, Failure to thrive, Cataract, Obesity, Abnormal lateral ventricle morphology, Se... ORPHA:353277
Genitopatellar Syndrome
Microcephaly, Colpocephaly, Agenesis of corpus callosum OMIM:606170
Trichothiodystrophy
Impaired social reciprocity, Gait ataxia ORPHA:33364
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Abnormal social behavior ORPHA:363958
Orofaciodigital Syndrome V
Overfriendliness OMIM:174300
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Hair-pulling OMIM:616393
Mend Syndrome
Abnormal social behavior ORPHA:401973
Van Esch-O'Driscoll Syndrome
Poor eye contact, Shyness OMIM:301030
Williams Syndrome
Overfriendliness, Gait imbalance, Ataxia, Dysmetria, Abnormal social behavior, Gait disturbance ORPHA:904
1P21.3 Microdeletion Syndrome
Shyness ORPHA:293948
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997
Monosomy 22Q13.3
Hair-pulling ORPHA:48652

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 Ank2

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 Ank2.

No publications found that use IMPC mice or data for Ank2.

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