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Gene: Nucks1 MGI:1934811

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Gene Summary

Name:
nuclear casein kinase and cyclin-dependent kinase substrate 1
Synonyms:
2700010L10Rik,  8430423A01Rik,  Nucks

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
abnormal kidney morphology Nucks1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased circulating HDL cholesterol level Nucks1tm1b(EUCOMM)Hmgu HOM Early adult 6.92×10-05
decreased circulating cholesterol level Nucks1tm1b(EUCOMM)Hmgu HOM Early adult 7.07×10-05
preweaning lethality, incomplete penetrance Nucks1tm1b(EUCOMM)Hmgu HOM   Early adult 0.000479

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Viewing: all phenotypes

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 Whole Body Dorso Ventral

10 Images

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Human diseases caused by Nucks1 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 Nucks1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Gait dist... ORPHA:2398
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resista... ORPHA:79085
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity, Overgrowth, Polyphagia OMIM:620195
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... ORPHA:324575
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Pol... ORPHA:329249
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435660
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly... ORPHA:276580
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... OMIM:615238
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes... ORPHA:276575
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... ORPHA:369873
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... ORPHA:276556
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Ataxia, Reduced intraabdominal ... ORPHA:363400
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... OMIM:612526
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Hypoglycemia, Leucine-Induced
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus, Obesity OMIM:615703
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic stea... OMIM:613877
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity, Hepatic steatosis OMIM:615980
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Obesity, Hypogonadism, Polyphagia OMIM:614962
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis ORPHA:79087
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, D... OMIM:610717
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... ORPHA:35878
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia OMIM:222100
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ketotic hypoglycemia, Lethargy, Failure to thrive, Hepatic steatosis ORPHA:26792
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Tachypne... ORPHA:36238
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... OMIM:619386
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age ORPHA:45452
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue los... ORPHA:528
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... OMIM:151660
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestat... ORPHA:79644
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis ORPHA:436182
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Apnea,... OMIM:619048
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Abnormal pancreas morphology, Ta... ORPHA:2849
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Lipodystrophy... OMIM:608594
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Neonatal a... ORPHA:79237
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Mater... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... ORPHA:2348
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism, Obesity, Large for gestational age OMIM:617119
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Decreased response... OMIM:610978
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... OMIM:246200
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... OMIM:269700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Respiratory arrest, Tachypnea, Hepatocellular necrosis, Pe... OMIM:201475
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Increase... OMIM:232700
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Bradykinesia, Gai... ORPHA:399
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Hypoglycemia, Episodic tachypnea, Small for gestational age, Decre... OMIM:615160
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Gait disturbance OMIM:618400
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... ORPHA:79086
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... ORPHA:139507
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea, Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia OMIM:615986
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Ataxia, Cachexia, Distal arthrogryposi... ORPHA:42
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Splenomegaly, Insulin resistance, Fle... OMIM:613327
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Apnea, Elevated circulating alanine aminotransferase concentration, I... OMIM:261680
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le... ORPHA:1227
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
14Q11.2 Microduplication Syndrome
Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Polyphagia ORPHA:261229
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Respiratory arrest, Macrovesicular hepatic steatosis... OMIM:600649
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Essential Fructosuria
Hyperglycemia, Abnormality of glycolipid metabolism ORPHA:2056
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Atypical Rett Syndrome
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Inability to walk, Tongue thrust... ORPHA:3095
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo... ORPHA:73272
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... OMIM:300148
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... ORPHA:79319
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... OMIM:614480
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Apnea, Tachypnea, Lethargy, Failure to thrive, Pancreatitis OMIM:606054
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... OMIM:203800
Diabetes Mellitus, Permanent Neonatal, 3
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Ataxia, Anorexia, Tachypnea, Weight loss, Agitation, Cough, Oral aver... ORPHA:134
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Small for gestational age, Epi... ORPHA:26793
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Type II diabetes mellitus OMIM:520000
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Hypog... OMIM:615547
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Short Syndrome
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... OMIM:269880
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hepatic necrosis,... ORPHA:71212
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Re... OMIM:214150
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Rett Syndrome
Inability to walk, Bradykinesia, Gait disturbance, Cholecystitis, Increased serum leptin, Difficu... ORPHA:778
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... ORPHA:905
Pyruvate Dehydrogenase Deficiency
Ataxia, Dyspnea, Tachypnea, Choreoathetosis, Multiple lipomas, Gait disturbance, Lethargy ORPHA:765
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Obesity, Aggressive behavior OMIM:616521
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... OMIM:617253
Placental Insufficiency
Hypoxemia, Insulin resistance, Small for gestational age ORPHA:439167
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Inability to walk, Respiratory failure, Decreased liver function, Dysphagia, Failure to t... ORPHA:70472
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hypoglycemia, Episodic tachypn... ORPHA:348
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... OMIM:248370
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive OMIM:263000
6Q16 Microdeletion Syndrome
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal fibrosis, He... ORPHA:369
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Anorexia, Tachypnea, Weight loss, Lethargy ORPHA:79242
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit... ORPHA:210548
Whipple Disease
Hepatomegaly, Ataxia, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Respiratory insuffici... ORPHA:3452
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... ORPHA:300536
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Insulin resistance, Elevated circulating growth hormone conc... ORPHA:90301
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to... OMIM:606407
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis OMIM:201450
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Hepatocellular nec... OMIM:256810
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia, Apnea, Acute hepatic steatosis, Lethargy, Failure to thrive OMIM:210200
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
High Altitude Pulmonary Edema
Orthopnea, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body w... OMIM:614450
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Ataxia,... ORPHA:20
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory fai... OMIM:614299
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... ORPHA:525731
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Citrullinemia Type I
Ataxia, Tachypnea, Hepatic failure, Lethargy, Failure to thrive ORPHA:247525
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... ORPHA:101330
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir... OMIM:300942
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Squalene Synthase Deficiency
Hypospadias, Increased circulating farnesol concentration, Decreased LDL cholesterol concentratio... OMIM:618156
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepa... OMIM:602579
Mehmo Syndrome
Diabetes mellitus, Agitation, Obesity ORPHA:85282
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Diabetes mellitus, Ataxia, Inguinal hernia, Insulin resistance, Dysmetria, Trun... OMIM:616541
Joubert Syndrome 7
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Neonatal breathing dysregulation OMIM:611560
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... ORPHA:178320
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Overgrowth, Increased adipose tissue ORPHA:199276
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation, Lethargy, Failure t... OMIM:615838
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cardiorespiratory arrest, Lethargy, He... OMIM:212138
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac... ORPHA:2959
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Impulsivity, Precocious puberty, F... ORPHA:398069
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tachypnea, Elevated circulating... OMIM:239200
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Multifocal Atrial Tachycardia
Dyspnea, Lethargy, Tachypnea, Hypothyroidism ORPHA:3282
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Insulin resistance, Asthma, Biliary tr... OMIM:209900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Micropenis, Hypocholesterolemia OMIM:618810
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Camptodactyly of finger, Tachypnea, Respiratory failure, Failure to th... OMIM:604320
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Ataxia, Decreased cir... ORPHA:453533
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Small for gestational age, Maternal diabetes, Tachypnea, Hypoxemia, Failure to thrive ORPHA:860
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Ataxia, Type II diabetes mellitus, Obesity ORPHA:2377
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Leth... ORPHA:2089
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Bardet-Biedl Syndrome 19
Hypogonadism, Hepatic steatosis, Obesity OMIM:615996
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Increased sarcoplasmic glycogen, Splen... ORPHA:264580
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Tachypnea, Pulmonary arterial hypertension, Lethargy, Failure to thrive OMIM:614857
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function OMIM:616829
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Obesity, Type II diabetes ... ORPHA:91
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:278000
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Loss of ambulation, Abnormal repetiti... ORPHA:79264
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly, Restrictive ventilatory def... OMIM:619013
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... OMIM:231530
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot... OMIM:618805
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... ORPHA:228402
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Respiratory insufficiency, Respira... ORPHA:746
Werner Syndrome
Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes... ORPHA:902
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Dyspnea, Insulin resistance, Hyperinsulinemia, Rhinitis ORPHA:230
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Respiratory failure ORPHA:890
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Monosomy 13Q34
Epistaxis, Insulin resistance, Hepatic steatosis, Obesity ORPHA:96168
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea OMIM:607765
Bangstad Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Pr... OMIM:210740
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... ORPHA:2088
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
Prader-Willi Syndrome
Hypoventilation, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... OMIM:176270
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... ORPHA:465508
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia, Ataxia, Anorexia, Tachypnea, Tip-toe gait, Compulsive behaviors, Abno... ORPHA:3008
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Ataxia, Abnormal dental enamel morphology, Apnea... ORPHA:10
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hyperactivity, Restlessne... ORPHA:247585
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... ORPHA:813
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Neonatal respiratory distre... OMIM:608836
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Obesity, Respiratory insufficiency, Type II diabetes ... ORPHA:3191
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Angelman Syndrome
Broad-based gait, Hyperactivity, Precocious puberty in females, Ataxia, Aggressive behavior, Inab... ORPHA:72
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... OMIM:261750
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Pneumothorax, Choreoathetosis, Respiratory fail... ORPHA:445038
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Overweight, Repetitive compulsive behavior, Flexion contracture, Attention def... ORPHA:391372
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, Achilles tendon con... OMIM:616263
Joubert Syndrome 9
Hepatic fibrosis, Apnea, Episodic tachypnea OMIM:612285
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:614582
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h... OMIM:613658
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:615486
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Recurren... ORPHA:444490
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Tru... OMIM:220110
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Apnea, F... OMIM:609069
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Apnea, Flexion contracture, Obesity, Choreoathetosis, Bradykinesia, Shuffli... OMIM:300055
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Gait disturbance, Decreas... ORPHA:436271
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... ORPHA:508
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Man1B1-Cdg
Truncal obesity, Broad-based gait, Polyphagia ORPHA:397941
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Restrictive ventilatory defect, Diffi... ORPHA:369840
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis OMIM:618234
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity, Hepatic steatosis ORPHA:412
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necros... OMIM:231680
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Overweight, ... OMIM:616222
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:96182
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Gait disturbance OMIM:604484
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Hypoglycemia, Microvesicu... OMIM:617156
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Paraseptal emphysema, Neonatal respiratory distress, Nonspecific interstiti... OMIM:610921
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... ORPHA:541423
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Flexion contracture, Recurrent pneumonia, Choreoathetosis, Hepatic ... OMIM:616271
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Salt craving, Maternal diabetes, Insulin resistan... ORPHA:358
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... ORPHA:98908
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Elevated circulating thyroid-stimulating hormone... ORPHA:226313
Cardiocranial Syndrome, Pfeiffer Type
Umbilical hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic t... ORPHA:2872
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Pneumonia, Adipose tissue loss, Insulin resistance,... ORPHA:125
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... ORPHA:298
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Jaundice, Tachypnea, Hypoglycemia OMIM:615751
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Joubert Syndrome 3
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypoketotic hypo... ORPHA:228305
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperactivity, Precocious puberty, Obesity, Self-injurious behavior, Arthrogry... ORPHA:254346
Atelis Syndrome 2
Dyspnea, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmet... OMIM:620185
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hepatosplenomegaly, Knee flexion contracture... ORPHA:79322
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Respiratory paralysis, Adrenocortical adenoma, Increased intramyocell... ORPHA:681
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... OMIM:613027
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Cholera
Hypoglycemia, Tachypnea, Aspiration pneumonia, Lethargy, Hyperventilation ORPHA:173
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevat... ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Respiratory insufficiency, Respiratory failure, Bile... OMIM:618329
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Necrotizing Enterocolitis
Small for gestational age, Apnea, Peritonitis, Abnormal glucose homeostasis, Lethargy, Hyperglycemia ORPHA:391673
Secondary Short Bowel Syndrome
Cholestasis, Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Poly... ORPHA:95427
3-Methylglutaconic Aciduria, Type V
Ataxia, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic ste... OMIM:610198
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity OMIM:615812
Mandibuloacral Dysplasia With Type B Lipodystrophy
Generalized lipodystrophy, Insulin resistance, Delayed puberty ORPHA:90154
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dec... ORPHA:96180
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hypoglycemia, Apnea, Aggressiv... ORPHA:17
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea, Small for gestational age OMIM:613320
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Luscan-Lumish Syndrome
Polyphagia, Overgrowth, Obesity, Aggressive behavior OMIM:616831
Joubert Syndrome With Oculorenal Defect
Tachypnea, Abnormality of the hypothalamus-pituitary axis, Ataxia, Apnea ORPHA:2318
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... ORPHA:273
Atypical Werner Syndrome
Failure to thrive, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Ins... ORPHA:79474
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Tetanus
Respiratory distress, Tachypnea, Dysphagia ORPHA:3299
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypoglycemia, Failure to thrive in infancy, Microvesicular hepati... OMIM:619418
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Ataxia, Microvesicular hepatic steatosis, Repetitive compulsive be... ORPHA:66634
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Biotinidase Deficiency
Hepatomegaly, Ataxia, Apnea, Splenomegaly, Tachypnea, Lethargy OMIM:253260
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Joubert Syndrome
Ataxia, Episodic tachypnea, Apnea, Gait disturbance, Abnormality of the hypothalamus-pituitary ax... ORPHA:475
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... ORPHA:79303
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity ORPHA:589905
Rotor Syndrome
Jaundice, Storage in hepatocytes, Intermittent jaundice ORPHA:3111
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Failure to thrive,... ORPHA:99901
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Tachypnea, Hepatitis, Progressive... ORPHA:415
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Cimdag Syndrome
Hepatomegaly, Ataxia, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis OMIM:619273
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Adrenomyodystrophy
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis ORPHA:977
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Disproportionate tall stature, Failure to thrive, Hepatic steatosis, Pancreatiti... OMIM:236200
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Hepatic steatosis, Weakness of muscles of respiration ORPHA:52430
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Obesity, Delayed puberty ORPHA:251004
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... OMIM:615710
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Ataxia, Small for gestational age, Microvesicular hepatic steatosi... OMIM:220111
Congenital Disorder Of Glycosylation, Type Ia
Proteinuria, Renal cyst, Steatorrhea, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, ... OMIM:212065
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholesta... ORPHA:440713
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion ORPHA:542323
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Pulmonary arterial hypertension, Bulimia, Obesity OMIM:614651
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia, Tachypnea, Cough, Lethargy, Failure to thrive ORPHA:137675
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... ORPHA:93111
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... OMIM:619487
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the thyroid gland, Self hugging, Increased body weight, Head-bangin... OMIM:182290
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Ataxia, Intermittent hyperventilation, Aggressive behavior, Precocio... ORPHA:163681
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Respiratory failure, Decreased liver function, Lethargy, Hepatic steatosis OMIM:614922
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, P... ORPHA:60025
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Micronodular cirrhosis, Obesity, Increased i... ORPHA:98907
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Tenorio Syndrome
Apnea, Hypoglycemia, Recurrent pneumonia, Gait disturbance, Hypoinsulinemia OMIM:616260
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Ataxia, Weight loss, Lower-limb ... ORPHA:99885
Double Outlet Right Ventricle
Hypoparathyroidism, Failure to thrive, Tachypnea, Aplasia/Hypoplasia of the thymus ORPHA:3426
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive OMIM:615453
Wilson Disease
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... OMIM:277900
Thalidomide Embryopathy
Insulin resistance, Chronic rhinitis ORPHA:3312
Joubert Syndrome 1
Central apnea, Hyperactivity, Ataxia, Episodic tachypnea, Aggressive behavior, Hepatic fibrosis, ... OMIM:213300
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypoparathyroidism, Diabetes mellitus, Pancreatic fi... ORPHA:699
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Pneumonia, Peritonitis, Tachypnea, Hepatitis, Cellulitis ORPHA:36234
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent ... OMIM:156200
Serotonin Syndrome
Restlessness, Hepatic failure, Agitation, Tachypnea ORPHA:43116
Arima Syndrome
Hepatomegaly, Ataxia, Dyspnea, Tachypnea, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis OMIM:243910
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicular hepatic steatosi... OMIM:124000
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Adnp Syndrome
Respiratory distress, Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Aspiration... ORPHA:404448
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... OMIM:614300
Peripartum Cardiomyopathy
Orthopnea, Diabetes mellitus, Abnormality of thyroid physiology, Crackles, Dyspnea, Asthma, Obesi... ORPHA:563
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Small for gestational age, Tach... ORPHA:555874
Bloom Syndrome
Small for gestational age, Bronchiectasis, Type II diabetes mellitus, Hepatic steatosis, Chronic ... OMIM:210900
Holocarboxylase Synthetase Deficiency
Lethargy, Tachypnea, Hyperventilation OMIM:253270
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... ORPHA:411511
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ketotic hypoglycemia, Splenomegaly, Hepatocellular a... ORPHA:79240
Alg12-Cdg
Hyponatremia, Hypospadias, Hypoalbuminemia, Hypocholesterolemia, Micropenis ORPHA:79324
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... OMIM:219090
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficiency, Hepatosplen... OMIM:618278
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Letha... OMIM:229600
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99226
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypoglycemia, Epistaxis, Hypothyroidism, Delayed puberty, Hepato... ORPHA:79259
Scorpion Envenomation
Restlessness, Acute pancreatitis, Ataxia, Elevated circulating aspartate aminotransferase concent... ORPHA:466677
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Hepatic calcification, Hepatic failure, Hepatic stea... ORPHA:228308
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture ORPHA:90153
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Apnea, Tachypnea, Failure to thrive, Recurrent aspiration pneumoni... ORPHA:397715
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Tachypnea OMIM:615934
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Overweight, Asthma, Flexion contracture, Obsessive-compulsive t... ORPHA:500055
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Broad-based gait, Aggressive behavior, Polyphagia, Self-mutilation ORPHA:251028
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... OMIM:300972
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Ethylene Glycol Poisoning
Ataxia, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of resp... ORPHA:31826
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Gait ataxia, Disproportionate tall stature, Hy... OMIM:615300
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Limb joint contracture, D... ORPHA:404454
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Liver Disease, Severe Congenital
Biliary hyperplasia, Elevated hepatic iron concentration, Cough, Pancreatic hypoplasia, Hepatic s... OMIM:619991
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Sotos Syndrome
Tall stature, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowth, Attent... OMIM:117550
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Decreased serum leptin, Dyspnea, Flexion contracture, Pulmonary arterial hypertensio... OMIM:614008
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Hypothyroidism, Addictive alcohol use ORPHA:90065
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibr... OMIM:619377
Joubert Syndrome 2
Central apnea, Ataxia, Episodic tachypnea, Failure to thrive, Neonatal breathing dysregulation OMIM:608091
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Splenomegaly, Inability to walk, Flexion contracture, Recurre... OMIM:617303
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Weaver Syndrome
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... OMIM:277590
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Upp... ORPHA:740
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:227810
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmonary arteria... ORPHA:99106
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Inability to walk, Athetosis,... OMIM:615356
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha... ORPHA:3157
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... OMIM:616433
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Hepatic steatosis, Restrictive behavi... OMIM:619475
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Type II diabetes mellitus ORPHA:401923
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the spleen, Hypothyroidism, Abnormal repetitive mannerism... ORPHA:1606
Orofaciodigital Syndrome Type 6
Ataxia, Episodic tachypnea, Apnea, Gait disturbance, Failure to thrive ORPHA:2754
Cole Disease
Hyperglycemia OMIM:615522
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
Dubowitz Syndrome
Hypospadias, Hypocholesterolemia OMIM:223370
Rh Deficiency Syndrome
Hypoxemia, Jaundice, Tachypnea, Hepatosplenomegaly ORPHA:71275
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation ORPHA:90068
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Adrenal calcifi... ORPHA:275761
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:605814
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera... ORPHA:96253
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Ren... OMIM:270400
Digeorge Syndrome
Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ... OMIM:188400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Hy... OMIM:203700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth... OMIM:300868
Joubert Syndrome 8
Hepatomegaly, Ataxia, Obesity, Prolonged neonatal jaundice, Hyperventilation OMIM:612291
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Multiple joint contractures, Hypogonadotropi... ORPHA:79318
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Congenital diaphragmat... OMIM:600001
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Joubert Syndrome 5
Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Neonatal breathing dysregulation OMIM:610188
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion c... OMIM:619503
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Ogden Syndrome
Inguinal hernia, Apnea, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Aspiration... OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Asthma, Recurrent pneumonia, Po... OMIM:620330
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Asthma, Obesity, Type I diabetes mellitus, Dentinogenesis imperfecta OMIM:619269
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Tachypnea, Hypercapnia ORPHA:423
Exercise-Induced Malignant Hyperthermia
Ataxia, Crackles, Tachypnea, Decreased liver function, Hypocapnia, Lethargy, Hepatic failure ORPHA:466650
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased re... ORPHA:3455
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, Gluc... OMIM:619127
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Dyspnea, Obesity, Increased circulating renin level,... ORPHA:90041
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pneumonia, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Hepatic steatosis OMIM:615846
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:619573
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Dend Syndrome
Hyperglycemia ORPHA:79134
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Polyphagia, Obesity, Congenital hypothyroidism, Cam... OMIM:607872
Perlman Syndrome
Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hy... OMIM:267000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Asthma, Obesity, Aspiration pneumonia, Tra... ORPHA:444077
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis OMIM:619321
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... ORPHA:247598
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder OMIM:619934
Double Outlet Left Ventricle
Failure to thrive, Tachypnea ORPHA:3427
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion... OMIM:233450
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Carney Complex
Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Fol... ORPHA:1359
Leukocyte Adhesion Deficiency
Sinusitis, Pneumonia, Lymphocytic interstitial pneumonia, Peritonitis, Bronchiectasis, Hyperinsul... ORPHA:2968
Truncus Arteriosus
Tachypnea, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Hellp Syndrome
Elevated hepatic transaminase, Pleural effusion, Increased body weight ORPHA:244242
Homozygous Familial Hypercholesterolemia
Dyspnea, Hepatic steatosis ORPHA:391665

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 Nucks1

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 Nucks1.

No publications found that use IMPC mice or data for Nucks1.

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MGI Allele Allele Type Produced
Nucks1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nucks1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Nucks1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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