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Gene: C2cd5 MGI:1921991

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Gene Summary

Name:
C2 calcium-dependent domain containing 5
Synonyms:
CDP138,  5730419I09Rik,  C030008B15Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition C2cd5em1(IMPC)Tcp HOM   Early adult 4.52×10-06
preweaning lethality, incomplete penetrance C2cd5em1(IMPC)Tcp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Human diseases caused by C2cd5 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 C2cd5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hepatic ... OMIM:615703
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Gait disturbance, Insulin resistance, Multiple ... ORPHA:2398
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 ORPHA:140941
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hypertension, Hyperlipidemia, Elevated circulating crea... OMIM:615980
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatic steatosis, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, R... OMIM:612526
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Hypertension, Lipodystrophy, Insulin resistance, Hepatic steat... OMIM:613877
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Hypertension, Insulin resistance, Diab... ORPHA:79084
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Obesity, Diabetes mellitus, Hypercholesterolemia, Myocardial infarction OMIM:608320
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Generalized lipodystrophy, Hepatomegaly, Hyper... ORPHA:363400
Type 2 Diabetes Mellitus
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus OMIM:125853
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Maturity-onset diabetes of the young, Overweight OMIM:613375
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... ORPHA:435660
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Hepatic steatosis, Hyperinsulinemia, Cirrhosis, P... ORPHA:528
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipose tissue, Loss of su... OMIM:608709
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating creatinine c... OMIM:617872
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Elevated circulating hepatic transaminase concentration,... OMIM:615381
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Cong... ORPHA:79083
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hypertriglyceridemia, Congestive heart failure, Hepatomegaly, Pancreatitis, Loss of ... ORPHA:2348
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Hypertension, Increased C-peptide lev... OMIM:615238
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Generalized lipodystro... ORPHA:79086
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos... OMIM:608600
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous a... ORPHA:2457
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Lo... ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Cardiomyopathy, Failure to thrive, Elevated circulating acylcarnitine conce... ORPHA:26792
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Bradycardia, Umbilic... ORPHA:95717
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Increased intram... OMIM:151660
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Bradycardia, Abnorma... ORPHA:95716
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly, Hepatic... ORPHA:280365
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Hyperinsulinism Due To Hnf1A Deficiency
Episodic hyperhidrosis, Hypoketotic hypoglycemia, Ketotic hypoglycemia, Reactive hypoglycemia, Hy... ORPHA:324575
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance, Diabete... OMIM:606069
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia, Adren... OMIM:262700
Obesity And Hypopigmentation
Hepatic steatosis, Obesity, Hyperinsulinemia, Overgrowth OMIM:620195
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Hypoketotic hypog... ORPHA:26793
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Hyperalaninemia, Elevated circulating alanin... OMIM:619048
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hyperinsulinemia, Elevated circulating hepatic transaminase concentration, ... OMIM:613327
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Difficulty walking, Inabi... OMIM:300148
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Episodic hyperhidrosis, Diffu... ORPHA:276575
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia, Lethargy OMIM:615026
Obesity
Obesity, Increased waist to hip ratio, Decreased resting energy expenditure OMIM:601665
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hypothermia, Elevated circulating alanine aminotransferase concentration, Failur... OMIM:245400
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Impaired glucose tol... OMIM:610947
Dietary Iron Overload Disease
Abnormal adrenal morphology, Congestive heart failure, Increased circulating ferritin concentrati... ORPHA:139507
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-... ORPHA:552
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious pube... OMIM:616222
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... ORPHA:2298
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Hypoth... ORPHA:226313
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... OMIM:620357
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Episodic hyperhidrosis, Diffuse p... ORPHA:276556
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Decreased circulating carnitine concentration, Microvesic... OMIM:212140
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fasting hypog... ORPHA:159
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Bradycardia, Pitu... ORPHA:90674
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Hypotension, Obesity, Glucose intolerance, Postural hypotension with compensato... ORPHA:369873
Seckel Syndrome 10
Hypertriglyceridemia, Congestive heart failure, Glucose intolerance, Hypertension, Acute pancreat... OMIM:617253
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Mildly elevated creatine kinase, Hepatic steatosis, Elevated circulating hepatic transaminase con... OMIM:618400
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Impaired sensitivity... ORPHA:90673
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... OMIM:609734
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Acute hepatic failure... OMIM:278000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased body weight, Hyperhid... ORPHA:276608
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypertension, Hypothyroidism, Obesity, Abnorm... ORPHA:77296
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatomegaly, Per... OMIM:251880
Laurence-Moon Syndrome
Obesity, Ataxia, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Bradycardia, Thyroid hypoplasia, Inappropriate antid... ORPHA:226307
Short Syndrome
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... OMIM:269880
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia, Lethargy OMIM:610006
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Bardet-Biedl Syndrome 2
Obesity, Diabetes mellitus, Dilated cardiomyopathy, Hypogonadism OMIM:615981
Familial Multiple Lipomatosis
Increased adipose tissue, Hyperlipidemia, Overgrowth, Lipodystrophy, Insulin resistance ORPHA:199276
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance, Truncal obesity OMIM:620639
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Angina ... ORPHA:412
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Ataxia, Hypertrophic cardiomyopathy OMIM:620270
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... OMIM:616829
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c... OMIM:608594
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Inguinal hernia, Biliary tract abnormality, Obesity, Ty... ORPHA:3191
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Timothy Syndrome
Hypothermia, Prolonged QT interval, Bradycardia, Hypocalcemia, Pulmonary arterial hypertension, H... OMIM:601005
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Inguinal hernia, Broad-based gait, Dysdiadochokinesis, ... OMIM:616541
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv... ORPHA:300536
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia, Elevated circulating hepatic transaminase concentration, Jaundice, Hepatomegaly, Hyp... ORPHA:20
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Hypogonadism, Neonatal hyperbilirubinemia, Insulin resistance, Hypoglycemia, T... ORPHA:73272
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating he... ORPHA:264580
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Elevated circulating hepatic transaminase c... OMIM:269700
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hypothermia, Increased circulatin... ORPHA:226316
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Knee flexion co... OMIM:214150
Short Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc... ORPHA:3163
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Cachexia, Hypotension, Fever, Hyponatremi... ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Hypothermia, Elevated circulating hepatic transaminase concentration, M... OMIM:618329
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste... ORPHA:98855
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypertension, Impaired glucose tolerance, Gait ataxia, Recurrent pancreatit... OMIM:606721
Familial Glucocorticoid Deficiency
Hyperkalemia, Hypoglycemic seizures, Tall stature, Ketotic hypoglycemia, Decreased circulating de... ORPHA:361
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Broad-based gait, Waddling gait, Obesity, Ataxia OMIM:616756
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Type II diabe... ORPHA:254516
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Ele... ORPHA:263455
Werner Syndrome
Lipoatrophy, Congestive heart failure, Thyroid carcinoma, Myocardial infarction, Hypertension, Sl... ORPHA:902
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste... ORPHA:98853
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Hypertension, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitu... OMIM:615830
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious puberty, Obesity, Truncal ... ORPHA:96184
Non-Acquired Isolated Growth Hormone Deficiency
Delayed puberty, Neonatal hypoglycemia, Anterior hypopituitarism, Prolonged neonatal jaundice, Ab... ORPHA:631
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... OMIM:203800
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly... ORPHA:769
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Pulmonary embolism, Jaundice, Increased circulating chylomicron concentrati... ORPHA:444490
Aromatase Deficiency
Tall stature, Hyperlipidemia, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, Type II... ORPHA:91
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Hypohidrosis, Hypoglycemia... ORPHA:633
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Tip-toe gait, Decreased cervical spine flexion due to contractures of poste... ORPHA:98863
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypothermia, Elevated circulating creatinine concentration, Orthostatic hypoten... ORPHA:230
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:600649
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Spontaneous Periodic Hypothermia
Hypothermia, Gait disturbance, Hyperhidrosis, Ataxia, Arrhythmia ORPHA:29822
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Insulinoma
Hyperinsulinemia, Palpitations, Neoplasm of the adrenal gland, Increased body weight, Primary hyp... ORPHA:97279
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Increased circulating ferritin concentration, Elevated ci... ORPHA:101330
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia, Decreased thyroid-stimulating hormone level, Reduce... OMIM:262600
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Decreased circulating carnitine concent... OMIM:201475
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bra... OMIM:212138
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Broad-based gait, Elevated circulating alanine aminotransferase conce... OMIM:618805
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Meningococcal Meningitis
Hypothermia, Elevated circulating C-reactive protein concentration, Hypotension, Fever, Increased... ORPHA:33475
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Calcinosis, Generalized lipodystrophy, Hyperlipidemia, Insulin resistance ORPHA:90154
Leptin Receptor Deficiency
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... OMIM:614963
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Placental Insufficiency
Insulin resistance, Hypoxemia, Small for gestational age ORPHA:439167
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He... OMIM:619013
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hypertension... OMIM:615812
Leprechaunism
Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Decreased body weight, Hypertr... ORPHA:508
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, Elevated circulating hepatic transaminase concen... ORPHA:99901
48,Xxyy Syndrome
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Hypergonadotropic hypogonadism,... ORPHA:10
Mitochondrial Complex I Deficiency, Nuclear Type 16
Failure to thrive, Choreoathetosis, Aplasia of the left hemidiaphragm, Adrenal insufficiency OMIM:618238
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Inability to walk, Hypertrophic cardiomyopath... ORPHA:70472
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Truncal obesity, Hypogonadism ORPHA:261483
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia, Fever, Hyperamm... OMIM:608836
Bardet-Biedl Syndrome 1
Gait imbalance, Hypertension, Nephrogenic diabetes insipidus, Biliary tract abnormality, Obesity,... OMIM:209900
N-Acetylglutamate Synthase Deficiency
Hypothermia, Hyperglutamatemia, Hyperalaninemia, Failure to thrive, Hyperammonemia, Low plasma ci... OMIM:237310
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Obesity, Hyperglycemia, Hypergonadotropic hypogonadism OMIM:619737
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Multiple lipomas, Hepatic steatosis, Hurthle cell thyroid adenoma ORPHA:210548
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism OMIM:615993
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Failure to thriv... OMIM:616263
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Difficulty walking, Chronic pancreatitis, Elevated circulating hepatic tran... OMIM:610717
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity, Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity, Hypertension OMIM:605572
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:293987
Monosomy 13Q34
Pulmonic stenosis, Obesity, Hypercalcemia, Epistaxis, Hematochezia, Insulin resistance, Hepatic s... ORPHA:96168
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity, Type II diabetes mellitus, Abnormality of the thyroid gland, Hypogona... ORPHA:2234
Bardet-Biedl Syndrome 19
Obesity, Hepatic steatosis, Hypogonadism OMIM:615996
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Prolonged QT interval, Prominent U wave, Hyperhidrosis... ORPHA:358
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Impaired glucose tolerance, Obesity, Splenomegaly, Hepatic fibrosis, G... OMIM:615630
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Methylmalonic acidemia, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:17
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoket... ORPHA:228305
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Orthostatic hypotension, Decreased circulating ACTH concentration, Hyperurice... ORPHA:199299
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperlipidemia, Hypothyroidism, Precocious puberty, Obesity, Mitral regurgi... ORPHA:254346
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Congestive heart failure, Hypoparathyroidism, Hypoketotic hypoglycemia, Hypocalcemi... ORPHA:746
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Abnormality of iron homeostasis, Hypoparathyroidism, Jaundice, High-o... ORPHA:231226
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating hepatic tran... ORPHA:94086
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Malignant hyperthermia, Congenital hypothyroidism ORPHA:352530
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Portal... OMIM:605814
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Silver-Russell Syndrome
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Hyperhidrosis, Premature adr... ORPHA:813
Patent Ductus Venosus
Decreased liver function, Persistent patent ductus venosus, Hypergalactosemia, Hyperammonemia, Co... OMIM:601466
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism OMIM:610628
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Alexander Disease
Hypothermia, Hypertension, Hypotension, Gait disturbance, Hypothyroidism, Failure to thrive, Prec... ORPHA:58
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Trunca... ORPHA:369840
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Sheehan Syndrome
Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin concentration,... ORPHA:91355
Wolman Disease
Steatorrhea, Hepatomegaly, Cachexia, Hepatic failure, Fever, Splenomegaly, Adrenal calcification,... ORPHA:75233
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity OMIM:301900
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Peripartum Cardiomyopathy
Sinus tachycardia, Hypertension, Heart murmur, Myocarditis, Elevated jugular venous pressure, Pul... ORPHA:563
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Wolff-Parkinson-White s... OMIM:618234
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Hypogonadism OMIM:614962
Reni Syndrome
Hypertriglyceridemia, Hypothyroidism, Ataxia, Hypogonadism, Hypoalbuminemia, Hypoglycemia, Adrena... OMIM:617575
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cholestasis, Prolonged neonatal jaundice, Ataxia, Acute hepatic failure, Recurrent hypoglycemia, ... OMIM:256810
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Congestive heart failure, Difficulty walking, Chronic pancreatitis, Elevate... ORPHA:98908
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Diabetes mellitus, Congenital hypothyroidism OMIM:614613
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat... OMIM:617093
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Abnormality of temperature regulation, Hypothermia, Inability to walk, Elbow flexion contracture,... OMIM:618493
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Abnormality of iron homeostasis, Hypoparathyroidism, Jaundic... ORPHA:231222
Poems Syndrome
Hepatomegaly, Abnormality of the endocrine system, Pulmonary arterial hypertension, Hypothyroidis... ORPHA:2905
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... OMIM:201450
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Sepsis In Premature Infants
Decreased liver function, Hypothermia, Jaundice, Hepatomegaly, Elevated circulating C-reactive pr... ORPHA:90051
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Beta-Thalassemia Major
Delayed puberty, Cirrhosis, Abnormality of iron homeostasis, Hypoparathyroidism, Jaundice, Hepato... ORPHA:231214
Hypoadrenocorticism, Familial
Hyperkalemia, Adrenal hypoplasia, Hyponatremia, Hypoglycemia, Cyanosis, Adrenal insufficiency OMIM:240200
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Glucocorticoid Deficiency 3
Abnormal circulating renin, Decreased circulating cortisol level, Decreased circulating aldostero... OMIM:609197
Hypothyroidism, Congenital, Nongoitrous, 6
Broad-based gait, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphal... OMIM:614450
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Splenomegaly, Elevated jugular venous pressure, Hepatocellular carcinoma, Portal ... ORPHA:465508
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Adrenal hypoplasia, Hypotension, Hyponatremia, Prol... ORPHA:199296
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia, Methylmalonic acidemia, Jaundice, Hyperhomocystinemia, Elevated circulating palmitol... ORPHA:79282
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Difficulty walking, Waddling gait, Obesity, Ataxia, Unsteady gait, Puberty and gonadal disorders ORPHA:464282
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Hypothermia, Inguinal hernia, Bradycardia OMIM:614498
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity, Lipoma ORPHA:480907
Adrenal Hypoplasia, Congenital
Delayed puberty, Adrenal hypoplasia, Precocious puberty, Absence of pubertal development, Primary... OMIM:300200
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Insulin-Like Growth Factor I, Resistance To
Decreased body weight, Reduced subcutaneous adipose tissue, Lipodystrophy, Increased circulating ... OMIM:270450
Developmental And Epileptic Encephalopathy 78
Hypothermia, Inability to walk OMIM:618557
Flynn-Aird Syndrome
Cachexia, Primary adrenal insufficiency, Ataxia, Type II diabetes mellitus, Abnormality of the th... ORPHA:2047
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Failure... OMIM:264350
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy OMIM:615119
Orthostatic Hypotension 1
Neonatal hypoglycemia, Intermittent hypothermia, Orthostatic hypotension, Reduced circulating pro... OMIM:223360
Wilson Disease
Cirrhosis, Difficulty walking, Elevated circulating hepatic transaminase concentration, Jaundice,... ORPHA:905
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Female hypogonadism, Hypothyroidism... OMIM:240300
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... ORPHA:90301
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ataxia, Hyp... ORPHA:699
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Microvesicular hepatic steatosis, Noncompaction ... OMIM:610198
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Portal fibrosis, Hyperbilirubinemia... OMIM:614300
Bardet-Biedl Syndrome 4
Obesity, Hypogonadism OMIM:615982
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia, Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgit... OMIM:616501
Pituitary Adenoma 4, Acth-Secreting
Hypokalemia, Hypertension, Impaired glucose tolerance, Obesity, Pituitary adenoma, Abdominal obes... OMIM:219090
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Primary Erythromelalgia
Vasculitis, Hypothermia ORPHA:90026
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Hypothermia, Br... OMIM:218700
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Failure to thrive, Disproportio... OMIM:236200
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Acute hyperammonemia, Hypoglycemia, Lethargy OMIM:210200
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Obesity, Lipodystrophy, Hypoalbuminemia, Inc... ORPHA:86816
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Hypogonadism OMIM:617119
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Bradykinesia, Shuffling gait, Wrist flexion contracture, Obesity, Ataxia, Flexion c... OMIM:300055
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Neonatal hypoglycemia, Cirrhosis, Hepatomegaly, ... OMIM:619418
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, Hepatic necrosis, F... OMIM:231530
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Increas... OMIM:177735
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
Congenital Enterovirus Infection
Myocarditis, Hypothermia, Cholestasis, Cardiomyopathy, Hypotension, Fever, Hyperammonemia, Hypoal... ORPHA:292
Biemond Syndrome Type 2
Delayed puberty, Obesity, Hypogonadotropic hypogonadism, Hypogonadism ORPHA:141333
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Pulmonary insufficiency, Right bundle br... OMIM:619322
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating hepatic transaminase c... ORPHA:14
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat... ORPHA:79322
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... ORPHA:2089
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Hypertriglyceridemia, Xanthelasma, Pancreatitis, Hepatoce... ORPHA:79259
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Loss of subcutaneous adipose ti... OMIM:248370
Non-Functioning Pituitary Adenoma
Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease... ORPHA:91349
Gaisböck Syndrome
Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Angina pectoris, Hyperten... ORPHA:90041
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatomegaly, Heart block, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated ... ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Hyper... OMIM:614582
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating cort... ORPHA:556037
Rafiq Syndrome
Flexion contracture, Obesity, Truncal obesity, Ataxia OMIM:614202
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, H... ORPHA:445038
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Insulin resistance, Diabetes mellitus, Small for gestatio... ORPHA:125
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... OMIM:616329
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Obesity, Loss of ambulation, Ataxia OMIM:618124
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Prolon... ORPHA:79102
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Decreas... ORPHA:541423
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Central hypothyroidism, Absence of pubertal developmen... ORPHA:398079
Schaaf-Yang Syndrome
Inability to walk, Camptodactyly, Obesity, Flexion contracture, Hypogonadism, Failure to thrive i... OMIM:615547
Acute Adrenal Insufficiency
Delayed puberty, Hyperkalemia, Orthostatic hypotension, Hyperuricemia, Adrenal hypoplasia, Androg... ORPHA:95409
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Bardet-Biedl Syndrome 9
Obesity, Hyperglycemia, Truncal obesity OMIM:615986
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... OMIM:617156
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypothermia, Cholelithiasis, Bradycardia, Elevated circulating crea... OMIM:618775
Smith-Magenis Syndrome
Delayed puberty, Hypertriglyceridemia, Gait disturbance, Precocious puberty, Hypothyroidism, Obes... ORPHA:819
Infantile Liver Failure Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h... OMIM:615438
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Atypical Werner Syndrome
Delayed puberty, Lipoatrophy, Hypertriglyceridemia, Hypertension, Aortic valve stenosis, Hypogona... ORPHA:79474
Narcolepsy Type 1
Hypertension, Precocious puberty, Obesity, Hyperhidrosis, Syncope ORPHA:2073
Bardet-Biedl Syndrome
Hypertriglyceridemia, Childhood-onset truncal obesity, Decreased HDL cholesterol concentration, I... ORPHA:110
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98754
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato... ORPHA:298
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Gait disturbance ORPHA:2429
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Increased circulating androstenedione concentration, Neonatal hypoglycemia, Increas... ORPHA:90791
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Adrenal... OMIM:219080
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Flexion contracture of digit, Reduced subcutaneous adipose tissue, Unsteady gait, Hypogonadism, T... ORPHA:3041
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Hyperprolinemia, Hyperalaninemia OMIM:615918
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Prolonged QT inte... ORPHA:66634
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparathyroidism, Obesity, ... OMIM:603233
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:98793
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte... ORPHA:90793
Morm Syndrome
Truncal obesity ORPHA:75858
Trisomy 5P
Obesity ORPHA:1742
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Obesity, Tip-toe gait, Ataxia OMIM:604360
Addison Disease
Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Increased circul... ORPHA:85138
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177904
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia, Hepatomegaly, Hyperalaninemia, Hypertrophic cardiomyopathy, Gait ataxia, Fever, Fail... ORPHA:255210
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... ORPHA:177901
48,Xxxy Syndrome
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes melli... ORPHA:96263
Immunodeficiency 54
Hepatomegaly, Adrenocorticotropic hormone excess, Failure to thrive, Splenomegaly, Adrenal insuff... OMIM:609981
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:2233
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... OMIM:618858
Tbck-Related Intellectual Disability Syndrome
Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ... ORPHA:488632
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Enamel hypoplasia, Obesity, Hip contracture, Truncal ob... OMIM:618363
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypothyroidism, Obesity... OMIM:103580
Joubert Syndrome 10
Recurrent fever, Decreased body weight, Obesity, Dysmetria OMIM:300804
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Palpitations, Adrenal pheochromocytoma, Hyper... OMIM:168000
Adrenomyodystrophy
Failure to thrive, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Flexion contracture ORPHA:90153
Steinert Myotonic Dystrophy
Elevated circulating hepatic transaminase concentration, Prolonged QRS complex, Decreased respons... ORPHA:273
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Marburg Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Bradycardia, Fever, Hyperammonemia, Peri... ORPHA:99826
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ... OMIM:610600
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Baralle-Macken Syndrome
Obesity, Inability to walk OMIM:619255
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... OMIM:606176
Cushing Disease
Increased urinary cortisol level, Increased body weight, Impaired glucose tolerance, Hypertension... ORPHA:96253
Chung-Jansen Syndrome
Obesity OMIM:617991
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased blood pressure, ... OMIM:619487
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity, Gait disturbance, Arrhythmia ORPHA:2928
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Abdominal obesity, Increased circulating gonadotropin level, Small for gestational ... OMIM:300869
Pseudopseudohypoparathyroidism
Pseudohypoparathyroidism, Enamel hypoplasia, Obesity OMIM:612463
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma... ORPHA:3143
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... ORPHA:96182
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Hyperkalemia, A... ORPHA:289548
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Palpitations, Adrenal pheochromocytoma, Hypertension associated with pheochromocyto... OMIM:605373
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia, Cardiac arrest, Arrhythmia ORPHA:168593
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemi... OMIM:261750
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Decreased liver function, Elevated circulating he... ORPHA:275761
Familial Hypoaldosteronism
Hyperkalemia, Orthostatic hypotension, Hypotension, Hypovolemia, Increased circulating renin leve... ORPHA:427
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Menkes Disease
Hypothermia, Decreased circulating ceruloplasmin concentration, Intracranial hemorrhage OMIM:309400
Neuroleptic Malignant Syndrome
Hyperkalemia, Hypothermia, Elevated circulating hepatic transaminase concentration, Hyperuricemia... ORPHA:94093
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age OMIM:618857
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Cardiomyopathy, Waddling gait, Elevated circulating creatine kinase con... ORPHA:52430
Craniopharyngioma
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... ORPHA:54595
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Gait disturbance, Hypertrophic cardiomyopathy, Glycosuria... ORPHA:436271
Bardet-Biedl Syndrome 21
Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Adrenocortical hypoplasia, Letharg... OMIM:307030
Immunodeficiency 61
Obesity OMIM:300310
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Microvesicular... OMIM:611126
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Neonatal hypoglycemia, Hyperkalemia, A... ORPHA:168558
8P23.1 Duplication Syndrome
Pulmonic stenosis, Adrenal insufficiency ORPHA:251076
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Neuroblastoma
Hypertension, Fever, Ataxia, Weight loss, Antalgic gait, Elevated circulating catecholamine level... ORPHA:635
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:619755
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Ataxia, Broad-based gait ORPHA:411515
Bardet-Biedl Syndrome 8
Obesity, Hypogonadism OMIM:615985
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Neonatal hypoglycemia, Ataxia, Flexion contracture, Choreoathetosis, He... OMIM:616271
Chylomicron Retention Disease
Steatorrhea, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypochol... ORPHA:71
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis, Ataxia, Lipodystrophy, Hypogonadism OMIM:619273
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating cort... ORPHA:556030
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Small pituitary gland, Increased body weight, Temperature instability, Centra... ORPHA:398069
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Hepatic periportal necrosis, Glycosuria, Hypoglycemia, Elevated circulati... OMIM:231680
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Tall stature, Precocious puberty in females,... ORPHA:90794
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Delayed puberty, Small pituitary gland, Reduced subcutaneous adipose tissue, Limb joint contractu... OMIM:612079
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Failure t... ORPHA:94065
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circu... OMIM:300972
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Mirage Syndrome
Hyperkalemia, Adrenal hypoplasia, Decreased body weight, Hypergonadotropic hypogonadism, Hyponatr... OMIM:617053
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Clark-Baraitser Syndrome
Obesity OMIM:617752
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Obesity, Shuffling gait, Broad-based gait ORPHA:3077
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Obesity, Overweight, Mitral regurgitation OMIM:614651
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Hypothermia, Orthostatic hypotension, Dysdiadochokinesis, Temperature instability, ... ORPHA:99027
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Difficulty walking, Elevated circulating hepatic transaminase concentration... ORPHA:98907
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity, Arrhythmia OMIM:600430
X-Linked Cerebral Adrenoleukodystrophy
Difficulty walking, Inability to walk, Gait disturbance, Hamstring contractures, Primary adrenal ... ORPHA:139396
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Gait disturbance, Obesity, Unsteady gait, Dysmetria ORPHA:93952
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Anterior pituitary hypoplasia, Abnormality of the hypothal... ORPHA:3157
Menkes Disease
Gastrointestinal hemorrhage, Hypothermia, Inguinal hernia, Prolonged neonatal jaundice, Intracran... ORPHA:565
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Hutchinson-Gilford Progeria Syndrome
Hypertension, Female hypogonadism, Aortic valve stenosis, Severe failure to thrive, Aortic regurg... ORPHA:740
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he... ORPHA:2137
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
6Q16 Microdeletion Syndrome
Obesity, Broad-based gait ORPHA:171829
X-Linked Adrenoleukodystrophy
Increased circulating ACTH level, Abnormality of adrenal physiology, Gait disturbance, Adrenal in... ORPHA:43
Senior-Loken Syndrome 9
Obesity, Cholestasis, Hepatic fibrosis, Hypogonadism OMIM:616629
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Obesity, Abnormality of the endocrine system ORPHA:464288
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy,... OMIM:615418
Perrault Syndrome 4
Hypoplasia of the ovary, Gait ataxia, Obesity, Disproportionate tall stature, Decreased serum est... OMIM:615300
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Obesity, Flexion contracture of toe, Hypogonadism ORPHA:3409
Ane Syndrome
Delayed puberty, Lipoatrophy, Decreased response to growth hormone stimulation test, Reduced circ... ORPHA:157954
Ataxia-Oculomotor Apraxia 4
Obesity, Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperchol... OMIM:616267
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, H... OMIM:124000
Kearns-Sayre Syndrome
Hypoparathyroidism, Cardiomyopathy, Primary adrenal insufficiency, Ataxia, Arrhythmia, Diabetes m... OMIM:530000
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Cerebra... ORPHA:90065
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminas... ORPHA:79240
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Fructose Intolerance, Hereditary
Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... OMIM:229600
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Bradycardia, Temperature instability, Hypotension, Hyponatremia, Hy... ORPHA:391673
Autoimmune Polyendocrine Syndrome, Type Ii
Steatorrhea, Cirrhosis, Asplenia, Hypothyroidism, Chronic hepatitis, Primary adrenal insufficienc... OMIM:269200
Ethylene Glycol Poisoning
Hyperkalemia, Congestive heart failure, Hypothermia, Prolonged QT interval, Hypocalcemia, Atrial ... ORPHA:31826
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Prader-Willi Syndrome
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... ORPHA:739
Ataxia-Oculomotor Apraxia Type 4
Obesity, Ataxia ORPHA:459033
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy... OMIM:619991
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Pure Autonomic Failure
Anhidrosis, Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension ORPHA:441
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Hypertension, Impaired glucose tolerance, Adrenal hyperp... ORPHA:99889
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Abdominal obesity, Hypogonadism, Gait ataxia OMIM:300354
Idiopathic Intracranial Hypertension
Obesity, Lethargy ORPHA:238624
D-Bifunctional Protein Deficiency
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin... OMIM:261515
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity, Abnormal circulating acylcarnitine concentration, Ataxia OMIM:620191
Pde4D Haploinsufficiency Syndrome
Hypotension, Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, O... ORPHA:439822
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Truncal ataxia, Hypertrophic cardiomyopathy, Glycosuria, ... OMIM:220110
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Tatton-Brown-Rahman Syndrome
Supraventricular tachycardia with an accessory connection mediated pathway, Tricuspid regurgitati... ORPHA:404443
Wilson Disease
Portal fibrosis, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum copper, H... OMIM:277900
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Hepatic steatosis, Increased circulating copper concentration, Cirr... ORPHA:209919
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Retinitis Pigmentosa
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing... OMIM:613658
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra... ORPHA:93111
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Elevated hemoglobin A1c, Type II diabete... OMIM:210900
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ... ORPHA:293978
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Triple A Syndrome
Ataxia, Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hyp... OMIM:618641
Intellectual Developmental Disorder, Autosomal Dominant 72
Obesity, Tall stature OMIM:620439
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Hypertriglyceridemia, Fever, Pulmonic stenosis, Ataxia, Hepatic steatosis, Decreased... ORPHA:3455
Radio-Tartaglia Syndrome
Precocious puberty, Obesity, Ataxia, Gait imbalance OMIM:619312
Sarcoidosis
Decreased liver function, Scarring, Abnormality of the adrenal glands, Hypothermia, Hepatomegaly,... ORPHA:797
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:613743
Meningioma
Decreased circulating cortisol level, Ataxia, Abnormal hypothalamus physiology, Difficulty walkin... ORPHA:2495
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
Aa Amyloidosis
Hepatomegaly, Cholestasis, Hypotension, Hypothyroidism, Adrenal insufficiency ORPHA:85445
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Athetosis, Temperature instability, Hypotension, Hyperhidrosis, Choreoa... OMIM:608643
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Broad-based gait, Obesity, Ataxia, Heat intolerance ORPHA:411511
Achalasia-Addisonianism-Alacrima Syndrome
Adrenocorticotropin receptor defect, Orthostatic hypotension, Decreased circulating cortisol leve... OMIM:231550
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Ataxia, Tall stature OMIM:618430
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hypotension, Increased circulating renin level, Failure to thrive, Recurrent fever,... OMIM:203400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:404454
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Intellectual Developmental Disorder, X-Linked 12
Truncal obesity, Small for gestational age, Gait disturbance, Increased body mass index OMIM:300957
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Cardiomyopathy, Hepatic steatosis, Lethargy OMIM:614922
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Hypertension, Increased blood urea nitrogen, ... ORPHA:251004
Laurence-Moon Syndrome
Obesity, Ataxia OMIM:245800
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Reduced circulating prolactin concentr... ORPHA:2235
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei... OMIM:619573
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Generalized lipodystrophy, Elevated circulating hepatic transaminase concen... OMIM:619127
Carpenter Syndrome 1
Camptodactyly, Omphalocele, Precocious puberty, Pulmonic stenosis, Obesity, Umbilical hernia, Pol... OMIM:201000
Wagr Syndrome
Obesity ORPHA:893
Generalized Pustular Psoriasis
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Elevated circu... ORPHA:247353
Joubert Syndrome 37
Obesity, Hepatomegaly OMIM:619185
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Pancreatic aplasia, Reduced subcutaneous adipose tissue, Failure to thrive... OMIM:609069
Myasthenia Gravis
Glycosuria, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormal thymu... ORPHA:589
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Bardet-Biedl Syndrome 3
Obesity, Tricuspid regurgitation OMIM:600151
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Inability to walk, Obesity, Unsteady gait, Ataxia OMIM:618443
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cholelithiasis, Precocious puberty, Obesity, Hepatosplenomegaly, Umbilical hernia, ... OMIM:301066
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia, Obesity OMIM:608624
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Broad-based gait, Cachexia, Camptodactyly of finger, Obesity, Hyperhidrosis, Hyp... ORPHA:85293
Acute Liver Failure
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, S... ORPHA:90062
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hypoglycemic seizures, Waddling gait, Failure to thrive, Obesity OMIM:616364
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia, Bradycardia OMIM:608800
Adiposis Dolorosa
Hypothyroidism, Obesity, Telangiectasia of the skin, Xerostomia ORPHA:36397
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:363741
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Truncal obe... OMIM:618160
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Decreased transferrin saturation, Abnorm... ORPHA:300298
Pmm2-Cdg
Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding globulin, Fever... ORPHA:79318
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99413
Turner Syndrome
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99228
Monosomy X
Delayed puberty, Cholestatic liver disease, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99226
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism OMIM:601794
Down Syndrome
Delayed puberty, Gait disturbance, Obesity, Hyperthyroidism, Type II diabetes mellitus, Umbilical... ORPHA:870
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inguinal hernia, Elevated ... OMIM:619525
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly, Ataxia OMIM:275630
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Primary adrenal insuffi... ORPHA:261476
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Obesity, Camptodactyly ORPHA:412035
Aicardi-Goutieres Syndrome 7
Hematemesis, Hepatomegaly, Vasculitis, Hypertension, Hypertrophic cardiomyopathy, Hepatitis, Feve... OMIM:615846
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating a... OMIM:614924
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity, Hepatomegaly, Ataxia ORPHA:163681
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation tes... OMIM:615577
Retinitis Pigmentosa 51
Obesity OMIM:613464
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Obesity, Ataxia, Heat intolerance ORPHA:98794
Macrocephaly/Autism Syndrome
Large for gestational age, Hepatomegaly, Overgrowth, Obesity, Splenomegaly OMIM:605309
Panhypophysitis
Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin concentration,... ORPHA:95513
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypoglycemia, Tall stature, ... ORPHA:116
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Obesity, Dentinogenesis imperfecta OMIM:619269
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Inability to walk, Hype... OMIM:617303
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79443
Isolated Permanent Neonatal Diabetes Mellitus
Lower-limb joint contracture, Pancreatic hypoplasia, Hypovolemia, Glycosuria, Failure to thrive, ... ORPHA:99885
Adenohypophysitis
Orthostatic hypotension, Reduced circulating prolactin concentration, Pituitary hypothyroidism, A... ORPHA:95512
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... ORPHA:79444
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia OMIM:616672
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Umbilical hernia ORPHA:284180
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia, Elevated ... OMIM:609812
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Primary adrenal insufficiency ORPHA:44
Osteootohepatoenteric Syndrome
Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste... OMIM:619377
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:145260
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Hypokalemia, Increased urinary cortisol level, H... ORPHA:786
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Hypertension, Failure to thrive, Decreased circul... ORPHA:320
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Distal Deletion 12Q
Annular pancreas, Maturity-onset diabetes of the young, Biliary atresia, Elbow flexion contractur... ORPHA:96149
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Difficulty walking, Elevated circulating hepatic transaminase concentration, Inability to walk, H... OMIM:615356
Man1B1-Cdg
Truncal obesity, Broad-based gait ORPHA:397941
Distal 16P11.2 Microdeletion Syndrome
Obesity, Hyperuricemia ORPHA:261222
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis OMIM:257500
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Hypertension, Female hypogonadism, Hyperhidrosis, Hypogonadism, Central adrenal ... ORPHA:91347
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Jaundice, Elevated circulating hepatic transaminase concentration, Obesity, Hypogonadism, Diabete... OMIM:614231
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Obesity, Overgrowth OMIM:620250
Congenital-Onset Steinert Myotonic Dystrophy
First degree atrioventricular block, Obesity, Decreased body weight, Bundle branch block ORPHA:589821
Desbuquois Dysplasia 1
Obesity, Waddling gait OMIM:251450
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Kallmann Syndrome
Delayed puberty, Anterior hypopituitarism, Gait disturbance, Obesity, Ataxia, Hypogonadotropic hy... ORPHA:478
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Inability to walk, Decreased body weight, Enamel hypoplasia, Obesity, At... OMIM:619229
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Occipital Horn Syndrome
Scarring, Hypothermia, Jaundice, Inguinal hernia, Cholestasis, Femoral hernia, Atypical scarring ... ORPHA:198
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Pancreatic hypoplasia, Cholestasis, Hyperg... OMIM:615710
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypoparathyroidism, Restrictive cardiomyopathy, Precocious puberty, Obesity... ORPHA:369837
Ring Chromosome Y Syndrome
Obesity, Streak ovary, Male hypogonadism ORPHA:261529
Shox-Related Short Stature
Obesity ORPHA:314795
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Inguinal hernia, Femoral hernia, Aortic valve stenosis, Failure to thrive, ... ORPHA:96147
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Tip-toe gait, Congestive heart failure, Jaundice, Elevated circulating hepatic t... OMIM:619475
Megalencephaly
Truncal obesity ORPHA:2477
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... OMIM:615926
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Inguinal hernia, Pulmonic stenosis, Obesity, Umbilical hernia, Reduced circulating growth hormone... OMIM:620654
Peroxisome Biogenesis Disorder 4B
Decreased liver function, Hepatomegaly, Gait disturbance, Recurrent fever, Ataxia, Adrenal insuff... OMIM:614863
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Failure to thrive, Obesity, Choreoathetosis ORPHA:261197
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Enamel hypoplasia, Truncal obesity, Type II diabetes mellitus OMIM:210720
Angelman Syndrome
Precocious puberty in females, Inability to walk, Broad-based gait, Delayed menarche, Obesity, At... ORPHA:72
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly, Ataxia OMIM:612291
Metaphyseal Chondrodysplasia, Schmid Type
Obesity, Waddling gait ORPHA:174
Ulnar-Mammary Syndrome
Delayed puberty, Abnormality of temperature regulation, Hernia of the abdominal wall, Obesity, Ca... ORPHA:3138
Bardet-Biedl Syndrome 17
Obesity, Hypogonadism OMIM:615994
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Truncal ataxia, Microvesicular hepatic steatosis, Hypertension, Hypertrophic car... OMIM:220111
Adrenoleukodystrophy
Limb ataxia, Truncal ataxia, Elevated circulating long chain fatty acid concentration, Primary ad... OMIM:300100
Angelman Syndrome
Progressive gait ataxia, Obesity, Ataxia, Broad-based gait OMIM:105830
Zellweger Syndrome
Jaundice, Hepatomegaly, Failure to thrive, Primary adrenal insufficiency, Very long chain fatty a... ORPHA:912
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Abnormal left ventricular function, Pancreatic endocrine t... ORPHA:892
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Abdominal obesity, Disproportionate tall stature, Mitral regurgitation, Camptodactyly OMIM:301039
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Pancreatitis, Obesity, Male hypogonadism... OMIM:619471
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Umbilical hernia ORPHA:1001
Adrenomyeloneuropathy
Spastic gait, Adrenocortical abnormality, Adrenocorticotropic hormone excess, Primary adrenal ins... ORPHA:139399
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Rabin-Pappas Syndrome
Retinal telangiectasia, Overgrowth, Hyponatremia, Obesity, Failure to thrive in infancy OMIM:620155
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Hyperkalemia, Joint contracture of the hand,... OMIM:201750
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Hypertension, Failure to thrive, Decreased circul... OMIM:218030
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Hypertrophic cardiomyopathy, Weight loss ORPHA:251071
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Inability to walk, Abnormality of the endocrine system, Broad-based gait, Hypothyroi... ORPHA:438213
Ogden Syndrome
Jaundice, Maternal diabetes, Macrovesicular hepatic steatosis, Inguinal hernia, Hyperbilirubinemi... OMIM:300855
Cohen Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Childhood-onset truncal o... OMIM:216550
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Telangiectasia of the skin, Flexion contra... OMIM:616007
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnorma... ORPHA:3464
Momo Syndrome
Large for gestational age, Obesity, Overgrowth, Tall stature ORPHA:2563
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic gait, Obesity, Tip-toe gait OMIM:617296
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia, Class III obesity OMIM:616418
Prolactinoma
Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy... ORPHA:2965
Achondroplasia
Hypoxemia, Obesity ORPHA:15
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Inguinal hernia, Hypertension, Obesity, Unsteady gait, Ataxia, Sh... OMIM:614947
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Fever, Hype... ORPHA:99827
Carney Complex
Congestive heart failure, Thyroid carcinoma, Tall stature, Increased circulating insulin-like gro... ORPHA:1359
Peroxisome Biogenesis Disorder 2B
Elevated circulating long chain fatty acid concentration, Adrenal insufficiency OMIM:202370
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elbow flexi... OMIM:300868
Kleefstra Syndrome
Obesity, Hernia, Arrhythmia ORPHA:261494
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Broad-based gait, Abnormality of the pineal gland, Failure to thr... ORPHA:369950
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hypertension, Pseudohypoaldosteronism, Hyperchlo... OMIM:614492
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Hypertension, Hypertrophic cardiomyopathy, Pr... OMIM:270400
Autosomal Recessive Spastic Paraplegia Type 11
Inability to walk, Orthostatic hypotension, Gait disturbance, Obesity, Ataxia, Overweight ORPHA:2822
Luscan-Lumish Syndrome
Obesity, Overgrowth OMIM:616831
1P36 Deletion Syndrome
Annular pancreas, Gait disturbance, Hypothyroidism, Failure to thrive, Obesity, Camptodactyly of ... ORPHA:1606
Hereditary Sensory And Autonomic Neuropathy Type 4
Hypothermia, Difficulty walking, Corneal scarring, Unexplained fevers, Anhidrosis, Recurrent feve... ORPHA:642
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity, Streak ovary OMIM:194072
Fliedner-Zweier Syndrome
Obesity OMIM:620511
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Pituitary hypoth... ORPHA:1435
Digeorge Syndrome
Inguinal hernia, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Femoral hernia, Hypothyr... OMIM:188400
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism OMIM:614495
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Thyroid hypoplasia, Cholestasis, Hepatic steatosis, Tip-toe gait, Decrease... OMIM:619503
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv... ORPHA:70591
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Cohen Syndrome
Delayed puberty, Failure to thrive in infancy, Obesity ORPHA:193
White-Sutton Syndrome
Congenital diaphragmatic hernia, Obesity, Ventral hernia, Inguinal hernia ORPHA:468678
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Truncal ataxia, Ataxia, Flexion contracture, Limb joint contracture, Splenomegaly, ... OMIM:301072
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia, Hypertension, Pseudohypoaldosteronism OMIM:614496
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Hypoplasia of the ovary, Flexion contracture, Abdominal obesity, Hepatic steatosis OMIM:619321
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Pulmonary arteri... ORPHA:444077
Williams Syndrome
Abnormal circulating lipid concentration, Hypertension, Cerebral ischemia, Pulmonic stenosis, Ata... ORPHA:904
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Aortic valve stenosis, Obesity, Unsteady gait, ... ORPHA:96121
Williams-Beuren Syndrome
Glucose intolerance, Gait imbalance, Inguinal hernia, Hypertension, Portal hypertension, Hypothyr... OMIM:194050
Kleefstra Syndrome 1
Obesity OMIM:610253
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Hypoparathyroidism, Inguinal hernia, Cho... ORPHA:567
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentrat... OMIM:201810
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum... OMIM:202010
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypogonadot... ORPHA:177907
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology OMIM:300858
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Failure to thrive, Hyperammonemia, Splenomegaly, Hypolysinemia, Pulmo... OMIM:222700
Wagro Syndrome
Obesity, Hypertension OMIM:612469
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Difficulty walking, Inguinal hernia, Heart murmur OMIM:618653
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Arima Syndrome
Cirrhosis, Hepatomegaly, Hypertension, Ataxia, Hepatic fibrosis, Hepatic steatosis OMIM:243910
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Inguinal hernia, Biliary atresia, Pancreatic hypoplasia, Aplasia... OMIM:600001
Chops Syndrome
Obesity, Splenomegaly OMIM:616368
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Prolonged QT interval, Hypothyroidism, Obesity, Tachycardia, Increased circulati... ORPHA:1772
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hypohidrosis, Ataxia, Orthostatic hypotension, Adrenal insufficiency OMIM:615510
Diamond-Blackfan Anemia 21
Obesity, Aortic regurgitation OMIM:620072
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Failure to thrive, Obesity, Mitral regurgi... OMIM:615873
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity ORPHA:2637
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Unconjugated hyperbilirubinemia, Failure to thriv... OMIM:618278
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Carney Triad
Gastrointestinal hemorrhage, Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity, Hype... ORPHA:139411
Bardet-Biedl Syndrome 12
Obesity, Hypogonadism OMIM:615989
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Witteveen-Kolk Syndrome
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Inguinal ... OMIM:613406
Myhre Syndrome
Hypertension, Camptodactyly, Aortic valve stenosis, Obesity, Ataxia, Small for gestational age OMIM:139210
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level OMIM:605115
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal... OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal... OMIM:618126
Liddle Syndrome 1
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal... OMIM:177200
Primrose Syndrome
Delayed puberty, Glucose intolerance, Hypergonadotropic hypogonadism, Hypothyroidism, Hip contrac... OMIM:259050
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Truncal obesity ORPHA:466950
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Increased circulating gonadotropin lev... ORPHA:251510
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis, Failure to thrive in infancy, Truncal obesity, Pineal cyst ORPHA:529962
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 2nd toe, Decreased body weight, Hypothyr... OMIM:300166
Rubinstein-Taybi Syndrome 1
Hepatic hemangioma, Accessory spleen, Keloids, Premature thelarche, Failure to thrive, Enamel hyp... OMIM:180849
Homozygous Familial Hypercholesterolemia
Abnormal left ventricular function, Hypercholesterolemia, Angina pectoris, Increased LDL choleste... ORPHA:391665
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Cardiomyopathy, Hypothyroidism, Precocious... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Cardiomyopathy, Hypothyroidism, Precocious... ORPHA:363958
Adnp Syndrome
Truncal obesity, Inguinal hernia, Umbilical hernia ORPHA:404448
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity, Dysmetria, Gait ataxia ORPHA:75857
Ulnar-Mammary Syndrome
Delayed puberty, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contracture, Obesi... OMIM:181450
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Camptodactyly, Congenital hypothyroidism, Hypothyroidism, Camptodac... OMIM:607872
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... ORPHA:91350
Monosomy 22Q13.3
Hypohidrosis, Obesity, Umbilical hernia ORPHA:48652
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Pseudohypoparathyroidism, Failure to thrive, Obesity OMIM:617157
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pulmonic stenosis, Failure to thrive, Obesity, Aortic valve stenosis, Cardiac conduction abnormal... ORPHA:353281
Pallister-Hall Syndrome
Large for gestational age, Inguinal hernia, Pituitary hypothyroidism, Adrenal hypoplasia, Thyroid... ORPHA:672
Carpenter Syndrome 2
Tricuspid regurgitation, Camptodactyly, Umbilical hernia, Obesity, Knee flexion contracture OMIM:614976
Retinitis Pigmentosa 74
Obesity OMIM:616562
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Corneal scarring, Pulmonic stenosis, Failure to thrive, Obesity, Aortic valve stenosis, Cardiac c... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Corneal scarring, Pulmonic stenosis, Failure to thrive, Obesity, Aortic valve stenosis, Cardiac c... ORPHA:353277
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Failure to thrive, Primary adrenal insufficiency ORPHA:2753
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Cornelia De Lange Syndrome
Delayed puberty, Failure to thrive, Truncal obesity, Congenital diaphragmatic hernia ORPHA:199
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Failure to thrive, Truncal obesity, Aortic regurgitation, Camptodactyly OMIM:612474
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Inability to walk, Camptodactyly of 2nd-5th fingers, Inguinal he... OMIM:601803
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Obesity, Hypogonadism 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 C2cd5

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 C2cd5.

No publications found that use IMPC mice or data for C2cd5.

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
C2cd5tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
C2cd5em1(IMPC)Tcp Exon Deletion Mice
C2cd5tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
C2cd5tm179771(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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