Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Nucks1tm1b(EUCOMM)Hmgu HOM   Early adult 0.000479
decreased circulating HDL cholesterol level Nucks1tm1b(EUCOMM)Hmgu HOM Early adult 6.92×10-05
abnormal kidney morphology Nucks1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased circulating cholesterol level Nucks1tm1b(EUCOMM)Hmgu HOM Early adult 7.07×10-05

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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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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
Insulin resistance, Gait disturbance, Hepatomegaly, Abnormal adipose tissue morphology, Multiple ... ORPHA:2398
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue, Childhood-onse... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... ORPHA:71526
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Lipoatrophy, Hepatic fi... ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, He... ORPHA:435651
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:276575
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Reduced intraabd... ORPHA:363400
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Splenomegaly, Reduced subcuta... OMIM:612526
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic is... ORPHA:276556
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypo... ORPHA:276608
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Lipodystrophy, Familial Partial, Type 7
Gait ataxia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, Impaired g... OMIM:606721
Morbid Obesity And Spermatogenic Failure
Obesity, Hepatic steatosis, Type II diabetes mellitus, Insulin resistance OMIM:615703
Growth Hormone Insensitivity Syndrome
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... ORPHA:181393
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... OMIM:604367
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Cholestasis, Obes... OMIM:609734
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Diabetes mellitus, Lipoatrophy OMIM:613877
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Recurrent pneumonia, Hypogonadism, ... OMIM:614962
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Insulinoma
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gl... ORPHA:97279
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Acquired Partial Lipodystrophy
Hepatic steatosis, Lipoatrophy, Insulin resistance ORPHA:79087
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Respiratory distress, Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive ORPHA:26792
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Attention deficit... ORPHA:35878
Leptin Receptor Deficiency
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnormal eating behavior, O... OMIM:614963
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Diabetes mellitus, Polyphagia OMIM:222100
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Glucose intolerance, Neonatal hyp... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic failure, Fa... OMIM:617872
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased serum leptin, Minimal subcutaneous fat, Increased intraabdominal fat, Insulin resistanc... ORPHA:280365
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Hepatomegaly, Diabetes mell... OMIM:610717
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Adipose tissue loss, Lipodyst... ORPHA:528
Idiopathic Neonatal Atrial Flutter
Tachypnea, Maternal diabetes, Respiratory distress, Large for gestational age ORPHA:45452
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Hyperinsuli... ORPHA:263455
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus ORPHA:436182
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Ataxia, Hypoglycemia, ... OMIM:220111
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia OMIM:601410
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Obesity
Increased waist to hip ratio, Decreased resting energy expenditure, Obesity OMIM:601665
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose tissue loss, Increased... OMIM:151660
Temple Syndrome
Polyphagia, Obesity, Small for gestational age, Type II diabetes mellitus, Recurrent hypoglycemia... ORPHA:254516
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Flexion contracture, Lipody... OMIM:615381
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycem... OMIM:619048
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Recurrent Respiratory Papillomatosis
Choking episodes, Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respir... ORPHA:60032
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypogly... OMIM:619386
Staphylococcal Necrotizing Pneumonia
Lethargy, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infe... ORPHA:36238
Perlman Syndrome
Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas ... ORPHA:2849
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Pneumonia, Weight loss, Type II diabetes mellitus, Insulin resista... ORPHA:2298
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegaly, Neonatal asphyxia, ... ORPHA:79237
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Decreased serum leptin, Polyphagia, Hyperinsulinemia, Elevated hepatic transaminase, H... OMIM:608594
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Hepatomegaly, Panc... ORPHA:2348
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Respiratory distress, Failure to thrive OMIM:615595
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Insulin-resista... ORPHA:79083
Carnitine Deficiency, Systemic Primary
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Impaired gluconeogenesis, Decreased c... OMIM:212140
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Mandibuloacral Dysplasia
Increased intraabdominal fat, Glucose intolerance, Hyperinsulinemia, Insulin resistance, Increase... ORPHA:2457
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Decreased serum leptin, Polyphagia, Hyperinsulinemia, Elevated hepatic transaminase, H... OMIM:269700
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Lipoatrophy, Lipodystrophy, Splenomegaly, Pancr... ORPHA:90970
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Gait disturbance, Elevated hepatic transaminase OMIM:618400
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Hepatocellular necrosis, Hepatic steatosis, Nonketotic hypoglycemia, Periportal fibrosi... OMIM:201475
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Failur... OMIM:602579
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hyperinsulinemia, Insulin resistance, Dysphagia, Hepatic steatosis... OMIM:613327
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Episodic tachypnea, Hypoglycemia, Decreased liver function, Small ... OMIM:615160
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Truncal obesity, Small for gestational age, Failure to thrive, ... ORPHA:73272
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:616834
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Compensated hypothyroidism, Gonadotropin deficiency, Dystonia, Wheezing, Restrictive ventilatory ... OMIM:610978
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Dystonia, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicu... OMIM:256810
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Flexion contracture, Type I diabetes mellitus OMIM:618856
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Elevated hepatic transaminase, Exertional dyspnea, Hepatic steatosis, Hypoglycemia, Ata... ORPHA:42
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Absence of secon... ORPHA:785
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Ataxia, Abnormality of th... ORPHA:1227
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Sleep apnea, Elevated circulating growth hormone co... OMIM:300942
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Apnea, Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatomeg... OMIM:261680
Schaaf-Yang Syndrome
Inability to walk, Sleep apnea, Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Fl... OMIM:615547
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Elevated hepatic transaminase, Hypergonadotropic hypogonad... OMIM:203800
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Ataxia, Obesity, Hyperactivity, Broad-based gait ORPHA:411515
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Propionic Acidemia
Apnea, Dystonia, Lethargy, Hypoglycemia, Hepatomegaly, Pancreatitis, Failure to thrive, Tachypnea OMIM:606054
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Macrovesicular hepatic steatos... OMIM:600649
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Lipodystrophy OMIM:615238
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss, Hyperactivity OMIM:275000
Peroxisomal Acyl-Coa Oxidase Deficiency
Dystonia, Elevated hepatic transaminase, Dysphagia, Hepatomegaly, Diffuse hepatic steatosis OMIM:264470
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Overweight, Elevated hepatic transaminase, Respiratory distress, Hypoketotic hypoglycem... ORPHA:26793
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Hypergonadotropic hypogonadism, Failure to thrive, Decreased r... OMIM:606407
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Mehmo Syndrome
Inability to walk, Male hypogonadism, Gait ataxia, Difficulty walking, Hypoglycemia, Obesity, Del... OMIM:300148
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Lethargy, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Elevated h... ORPHA:71212
Pyruvate Dehydrogenase Deficiency
Dystonia, Lethargy, Dyspnea, Gait disturbance, Ataxia, Multiple lipomas, Tachypnea ORPHA:765
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Failure to thrive, Tachypnea OMIM:263000
Citrullinemia Type I
Lethargy, Ataxia, Torticollis, Hepatic failure, Failure to thrive, Tachypnea ORPHA:247525
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Dyspnea, Elevated hepatic transaminase, Neonatal hypoglycemia, Respiratory ... ORPHA:348
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Type I diabetes mellitus, Small for gestational age, Hyperglycemia OMIM:618857
Beta-Ketothiolase Deficiency
Oral aversion, Cough, Ataxia, Hypoglycemia, Hepatomegaly, Weight loss, Tachypnea, Hyperglycemia ORPHA:134
Huntington Disease
Inability to walk, Choking episodes, Dystonia, Decreased body mass index, Polyphagia, Difficulty ... ORPHA:399
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea, Lethargy, Hypoglycemia, Failure to thrive, Acute hepatic steatosis OMIM:210200
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... ORPHA:525731
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Lethargy, Central sleep apnea, Polyphagia, Premature pubarche, Premature adren... ORPHA:398079
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:617093
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Insulin resistance, Hypothyroidism, Increased circulating androgen concentr... ORPHA:769
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Progeria-Short Stature-Pigmented Nevi Syndrome
Central sleep apnea, Lack of facial subcutaneous fat, Elevated hepatic transaminase, Hypergonadot... ORPHA:2959
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Tachypnea OMIM:616414
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:98754
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Carcinoma Of Esophagus
Dysphagia, Cough, Weight loss, Obesity ORPHA:70482
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congenital hypothyro... OMIM:614450
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Lethargy, Hypoglycemia OMIM:615751
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:98793
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Hypocholesterolemia, Decreased LDL choles... OMIM:618156
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:177904
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Failure to thrive, Primary hypot... ORPHA:300536
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Whipple Disease
Insulin resistance, Hypothyroidism, Cough, Ataxia, Respiratory insufficiency, Hepatomegaly, Cache... ORPHA:3452
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central hyp... ORPHA:177901
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age, Respiratory insufficiency ORPHA:2432
Pancreatic And Cerebellar Agenesis
Apnea, Hypoglycemia, Pancreatic hypoplasia, Failure to thrive, Reduced subcutaneous adipose tissu... OMIM:609069
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity OMIM:617119
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly OMIM:255120
Joubert Syndrome 7
Episodic tachypnea, Central apnea, Ataxia, Tachypnea, Neonatal breathing dysregulation OMIM:611560
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly OMIM:201450
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
6Q16 Microdeletion Syndrome
Obesity, Polyphagia, Broad-based gait ORPHA:171829
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Truncal ataxia, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Hepatomegal... ORPHA:369840
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Congenital Disorder Of Glycosylation, Type It
Dyspnea, Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Hypoglycemia... OMIM:614921
Familial Multiple Lipomatosis
Overgrowth, Lipodystrophy, Increased adipose tissue, Insulin resistance ORPHA:199276
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis,... ORPHA:905
Placental Insufficiency
Hypoxemia, Small for gestational age, Insulin resistance ORPHA:439167
Hyperparathyroidism, Neonatal Severe
Dyspnea, Hepatomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone leve... OMIM:239200
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Hypocholesterolemia OMIM:266510
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Increased hepatic echog... OMIM:278000
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Lethargy, Sleep apnea, Polyphagia, Premature pubarche, Central sleep apnea, Ce... ORPHA:398069
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Insulin resistance, Hypothyroidism, Gait disturbance, Ataxia, Truncal obesity... OMIM:616541
Prader-Willi-Like Syndrome
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:398073
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Decreased DLCO, Reduced forced expiratory volume in one second, F... OMIM:300770
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus, Small for gestational age OMIM:606176
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Macrovesicular hepatic steatosis, Bradykinesia, Cholestasis, Hepatomegaly, Failure to t... OMIM:614924
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Atypical Rett Syndrome
Inability to walk, Dystonia, Gait ataxia, Sudden episodic apnea, Gait disturbance, Loss of abilit... ORPHA:3095
Interstitial Lung And Liver Disease
Cirrhosis, Dyspnea, Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Cough, Resp... OMIM:615486
Prader-Willi Syndrome
Sleep apnea, Hypoventilation, Hyperinsulinemia, Polyphagia, Failure to thrive in infancy, Obesity... OMIM:176270
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Ventilator dependence with inability to wean, Inspiratory stridor, Respi... OMIM:604320
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Lethargy, Elevated hepatic transaminase, Nonketotic hypoglycemia, Ataxia, Acute pancreatit... ORPHA:20
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Hepatic steatosis, ... ORPHA:101330
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Flexion contracture, Pancreatic fibrosis, Ataxia, Hepatic fibr... OMIM:616263
Laurence-Moon Syndrome
Ataxia, Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Tall stature, Type II diab... ORPHA:91
Multiple Carboxylase Deficiency
Tachypnea, Lethargy, Respiratory distress, Ataxia ORPHA:148
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased liver function, Failure ... OMIM:614300
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Elevated hepatic transaminase, Neonatal hypoglycemia, Cardiorespiratory arrest, Hepatic... OMIM:212138
Holocarboxylase Synthetase Deficiency
Lethargy, Respiratory distress, Ataxia, Weight loss, Tachypnea ORPHA:79242
Prader-Willi Syndrome
Central sleep apnea, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism... ORPHA:739
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis,... OMIM:619013
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Increased body weight, Dorsocervi... OMIM:615830
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatic necrosis, Fulminant h... OMIM:231530
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Micropenis, Hypocholesterolemia OMIM:618810
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycos... ORPHA:2089
Temple Syndrome
Maturity-onset diabetes of the young, Overweight, Flexion contracture, Truncal obesity, Small for... OMIM:616222
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Lethargy, Hypothyroidism, Hepatocellular carcinoma, Chronic hepatic failure, Weight lo... ORPHA:465508
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Rett Syndrome
Inability to walk, Dystonia, Difficulty walking, Increased serum leptin, Gait disturbance, Abnorm... ORPHA:778
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Hypoketotic hypoglycemia, Chronic hepatic failure, Toe walking, Respiratory insufficien... ORPHA:746
Joubert Syndrome 23
Apnea, Tachypnea OMIM:616490
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Inguinal hernia, Lethargy OMIM:614857
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Hyperinsulinemia, Insulin resistance, Hypoglycemia, Rhinitis ORPHA:230
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Respiratory insufficiency, Inguinal hernia, Type II diabetes mellitus,... ORPHA:3191
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Small for gestational... OMIM:210740
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Short Syndrome
Glucose intolerance, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Inguinal he... OMIM:269880
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, P... ORPHA:444490
Monosomy 13Q34
Obesity, Hepatic steatosis, Epistaxis, Insulin resistance ORPHA:96168
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Increased body weight ORPHA:890
Craniopharyngioma
Sleep apnea, Polyphagia, Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insu... ORPHA:54595
Avian Influenza
Dyspnea, Respiratory distress, Elevated hepatic transaminase, Pleural effusion, Cough, Nonproduct... ORPHA:454836
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Central Precocious Puberty
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... ORPHA:759
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Failure to thrive in infancy, Cachexia, Recurrent hypog... ORPHA:813
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Impaired glucose tolerance, Hepatocellular carc... ORPHA:2088
Cardiocranial Syndrome, Pfeiffer Type
Plantar flexion contractures, Episodic tachypnea, Umbilical hernia, Torticollis, Contracture of t... ORPHA:2872
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Lethargy, Elevated hepatic transaminase, Respiratory distress, Nonketotic hypoglycemia, Ma... OMIM:608836
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Respiratory failure, Tachypnea, Hyp... ORPHA:178320
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Dysphagia, Loss of ability to walk, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Joubert Syndrome 9
Hepatic fibrosis, Apnea, Episodic tachypnea OMIM:612285
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Neonatal respiratory distress, Asth... ORPHA:2257
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Aspiration, Oral aversion, Insulin resistance, Premature adrenarche, Small ... ORPHA:96182
Citrullinemia Type Ii
Decreased body mass index, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hepatocell... ORPHA:247585
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Hypoglycemia, Glycosuria, Hepatomegaly, Jaundice, Hepati... OMIM:231680
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity OMIM:610628
Werner Syndrome
Slender build, Insulin resistance, Chondrocalcinosis, Lipoatrophy, Lipodystrophy, Thyroid carcino... ORPHA:902
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Joubert Syndrome 30
Apnea, Tachypnea OMIM:617622
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Exertional dyspnea, Gait disturbance, Ataxia, Glycosuria, Hepatomegaly, Respiratory insufficiency... ORPHA:436271
48,Xxyy Syndrome
Apnea, Abnormal dental enamel morphology, Hypergonadotropic hypogonadism, Ataxia, Tall stature, I... ORPHA:10
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia ORPHA:71
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Hepatic failure,... ORPHA:541423
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Cirrhosis, Tachypnea, Elevated hepatic transaminase, Hepatic steatosis, Cough, Emp... OMIM:613658
Dysbetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Diabetes mellitus, Obesity ORPHA:412
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Decreased DLCO, Atelect... ORPHA:79126
Pyruvate Carboxylase Deficiency
Dystonia, Hypoglycemia, Ataxia, Hepatomegaly, Failure to thrive, Abnormal pattern of respiration,... ORPHA:3008
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Hypothyroidism, Flexion contracture, Failure to thrive, Pulmonary arterial hypertensi... ORPHA:391372
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Neonatal respiratory distress, N... OMIM:610921
Man1B1-Cdg
Truncal obesity, Polyphagia, Broad-based gait ORPHA:397941
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia ORPHA:70587
Gitelman Syndrome
Maternal diabetes, Graves disease, Glucose intolerance, Respiratory distress, Insulin resistance,... ORPHA:358
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Joubert Syndrome 3
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation, Ataxia OMIM:608629
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Pituitary corticotropic cell adenoma OMIM:300270
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypogonadism, Eunuchoid habitus, Obe... ORPHA:2234
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Neonatal hypoglycemia, Hypothyroidism, Hepatic steatosis, Respirat... ORPHA:445038
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Hepatic... ORPHA:228305
Pick Disease Of Brain
Polyphagia OMIM:172700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus, Large for gestational age OMIM:616026
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Polyphagia, Elevated hepatic transaminase, Cardiorespiratory arrest, Premature a... ORPHA:293987
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis, Cholestasis, Hepatit... ORPHA:209902
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Dysphagia, Macrovesicul... ORPHA:298
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Abetalipoproteinemia, Hypocholesterolemia, Decreased LDL cholesterol concentr... ORPHA:96180
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea, Small for gestational age OMIM:613320
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Frontotemporal Dementia
Polyphagia OMIM:600274
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Neonatal respiratory distress, Respiratory failure, Failure to thrive, Pulmonary ... OMIM:265120
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Increased hepatocellular lipid droplets, Ataxia, Glycos... OMIM:220110
Complete Atrioventricular Septal Defect
Wheezing, Lethargy, Elevated pulmonary artery pressure, Crackles, Hepatomegaly, Pulmonary venous ... ORPHA:1329
Mandibuloacral Dysplasia With Type B Lipodystrophy
Delayed puberty, Generalized lipodystrophy, Insulin resistance ORPHA:90154
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity, Congenital hypothyroidism, Diabetes mellitus, Hyperactivity OMIM:614613
Bloom Syndrome
Chronic pulmonary obstruction, Insulin resistance, Adipose tissue loss, Pneumonia, Respiratory fa... ORPHA:125
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Hepatocellular necrosis, Respiratory insufficiency, Atelectasis, Hepatomegaly, Failure ... OMIM:618278
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Necrotizing Enterocolitis
Peritonitis, Apnea, Lethargy, Small for gestational age, Hyperglycemia, Abnormal glucose homeostasis ORPHA:391673
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Abnormality of the hypothalamus-pituitary axis, Ataxia ORPHA:2318
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hypothyroidism, Hepatic steatosis, Hyperactivity, Precocious ... ORPHA:254346
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Umbilical hernia, Inguinal hernia, Joint contracture of the hand, Hyperglyc... OMIM:175700
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Respiratory distress, Decreased circulating T4 level, Elevated circulating thyroid-stimul... ORPHA:226313
Secondary Short Bowel Syndrome
Polyphagia, Central hypothyroidism, Weight loss, Cholestasis, Primary hypothyroidism, Failure to ... ORPHA:95427
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Dyspnea, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism,... ORPHA:79444
2Q23.1 Microdeletion Syndrome
Polyphagia, Ataxia, Hyperactivity ORPHA:228402
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Joubert Syndrome
Apnea, Gait disturbance, Episodic tachypnea, Ataxia, Abnormal pattern of respiration, Abnormality... ORPHA:475
Cholera
Lethargy, Hypoglycemia, Aspiration pneumonia, Tachypnea, Hyperventilation ORPHA:173
Crimean-Congo Hemorrhagic Fever
Elevated hepatic transaminase, Cardiorespiratory arrest, Hepatic steatosis, Cough, Epistaxis, Jau... ORPHA:99827
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Steinert Myotonic Dystrophy
Male hypogonadism, Respiratory failure requiring assisted ventilation, Respiratory insufficiency,... ORPHA:273
Tetanus
Dysphagia, Tachypnea, Respiratory distress ORPHA:3299
Adrenomyodystrophy
Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive ORPHA:977
Cimdag Syndrome
Dystonia, Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Ataxia, Hepatomegaly, ... OMIM:619273
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypothyroidism, Hepatic steatosis,... OMIM:212065
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis, Waddling gait, Weakness of muscles of respiration ORPHA:52430
Biotinidase Deficiency
Apnea, Lethargy, Ataxia, Hepatomegaly, Splenomegaly, Tachypnea OMIM:253260
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypoglycemia, Acute hepatic failure,... ORPHA:99901
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circula... ORPHA:99832
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatic failure, Microvesicular hepatic steatosis, Hypoglycemia OMIM:611126
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Disproportionate tall stature, Tall stature, Inguinal hernia, Failure to thriv... OMIM:236200
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Ataxi... OMIM:124000
Atypical Werner Syndrome
Hyperinsulinemia, Hyperglycemia, Chondrocalcinosis, Abnormality of circulating leptin level, Hepa... ORPHA:79474
Angelman Syndrome
Inability to walk, Polyphagia, Dysphagia, Ataxia, Obesity, Precocious puberty in females, Hyperac... ORPHA:72
Woodhouse-Sakati Syndrome
Dystonia, Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, De... ORPHA:3464
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Elevated hepatic transaminase, Hepatomegaly, Progressive cerebellar ataxia, Hepatitis, ... ORPHA:415
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Polyphagia, Obesity ORPHA:251004
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Neoplasm of the liver, Hypoglycemia, Hypoinsulinemia, Weight loss,... ORPHA:2126
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Isolated Permanent Neonatal Diabetes Mellitus
Arthrogryposis multiplex congenita, Contractures of the joints of the lower limbs, Ataxia, Glycos... ORPHA:99885
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Respiratory paralysis ORPHA:681
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Jaundice, Abnormality of exocri... ORPHA:93111
Double Outlet Right Ventricle
Tachypnea, Hypoparathyroidism, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:3426
Dilated Cardiomyopathy With Ataxia
Dystonia, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Neonatal hypoglycemia,... ORPHA:66634
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Dyspnea, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism,... ORPHA:79443
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Obesity OMIM:234350
Histiocytoid Cardiomyopathy
Lethargy, Cough, Hypoglycemia, Hepatomegaly, Failure to thrive, Tachypnea ORPHA:137675
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Neonatal respiratory distress, Chronic lung disease, Spontaneous neonat... ORPHA:217563
Isolated Sedoheptulokinase Deficiency
Arthrogryposis multiplex congenita, Postprandial hyperglycemia, Flexion contracture, Cholestasis,... ORPHA:440713
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Pearson Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Hypothyroidism, Dysphagia, Hypo... ORPHA:699
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Pleural effusion, Respiratory failure, Tachypnea, Hypoxemia ORPHA:542323
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Dystonia, Elevated hepatic transaminase, Respiratory distress, Hepatic steatosis, Flexion ... ORPHA:17
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Luscan-Lumish Syndrome
Overgrowth, Polyphagia, Obesity OMIM:616831
Joubert Syndrome 1
Episodic tachypnea, Central apnea, Ataxia, Hepatic fibrosis, Hyperactivity, Neonatal breathing dy... OMIM:213300
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Respiratory failure, Small for ... ORPHA:555874
Bacterial Toxic-Shock Syndrome
Peritonitis, Respiratory distress, Cellulitis, Pneumonia, Hepatitis, Sinusitis, Tachypnea, Fasciitis ORPHA:36234
Thalidomide Embryopathy
Chronic rhinitis, Insulin resistance ORPHA:3312
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Maturity-onset diabetes of the young, Truncal obesity, Small for gestational age, Precocious pube... ORPHA:96184
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function, Lethargy OMIM:614922
Holocarboxylase Synthetase Deficiency
Tachypnea, Lethargy, Hyperventilation OMIM:253270
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Micronodular cirrhosis, Dystonia, Elevated hepatic transaminase, Microvesicula... ORPHA:404454
Tenorio Syndrome
Apnea, Gait disturbance, Pneumonia, Hypoglycemia, Hypoinsulinemia OMIM:616260
Fructose Intolerance, Hereditary
Cirrhosis, Lethargy, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Glycosuria, ... OMIM:229600
Joubert Syndrome 2
Episodic tachypnea, Central apnea, Ataxia, Failure to thrive, Neonatal breathing dysregulation OMIM:608091
Arima Syndrome
Dyspnea, Hepatic steatosis, Ataxia, Hepatic fibrosis, Hepatomegaly, Tachypnea OMIM:243910
Gracile Syndrome
Elevated hepatic iron concentration, Hepatic steatosis, Cirrhosis, Cholestasis ORPHA:53693
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Thyroiditis, Hepatoce... ORPHA:2137
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Pancreatitis OMIM:603471
Abetalipoproteinemia
Cirrhosis, Gait ataxia, Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Ataxia,... ORPHA:14
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Biliary tract abnormality, Ataxia, Hepatic fibrosis, Asthma, Hypo... OMIM:209900
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Chronic pancreatitis, Difficulty walking, Hepatic steatosis, Hepat... ORPHA:98908
Mitchell-Riley Syndrome
Absent gallbladder, Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Hyperg... OMIM:615710
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder OMIM:615538
Turner Syndrome Due To Structural X Chromosome Anomalies
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Eleva... ORPHA:99413
Turner Syndrome
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Eleva... ORPHA:881
Mosaic Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Eleva... ORPHA:99228
Monosomy X
Cirrhosis, Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Eleva... ORPHA:99226
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice, Lethargy, Hypoglycemia OMIM:228100
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Paroxysmal dyspnea... ORPHA:563
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hypoketotic hypoglycemia, Hepatic steatosis, Hepatomegaly, Hepatic calcification, Neonatal respir... ORPHA:228308
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Obesity OMIM:603233
48,Xxxy Syndrome
Abnormal dental enamel morphology, Tall stature, Pulmonary embolism, Inguinal hernia, Asthma, Typ... ORPHA:96263
Combined Oxidative Phosphorylation Deficiency 27
Dystonia, Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Thyroiditis, Hypothyroidism, Hepatocellular carcinoma, Hepatocellular aden... ORPHA:79259
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea, Failure to thrive OMIM:615934
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Insulin resistance ORPHA:90153
7Q11.23 Microduplication Syndrome
Polyphagia, Tracheomalacia, Unsteady gait, Inguinal hernia, Congenital diaphragmatic hernia, Dysm... ORPHA:96121
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Elevated hepatic transaminase, Chronic lung disease, Failure to thrive, Tachypnea, Recurre... ORPHA:397715
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH le... OMIM:219090
Adnp Syndrome
Respiratory distress, Polyphagia, Umbilical hernia, Oral-pharyngeal dysphagia, Truncal obesity, I... ORPHA:404448
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Nonprogressive cerebellar ataxia OMIM:610198
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Gait disturbance, Asthma, Hyperactivity, Large for gestational age ORPHA:457485
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Failure to thrive, Hyperactivity, Obstructive sle... ORPHA:412035
Brachytelephalangic Chondrodysplasia Punctata
Respiratory failure requiring assisted ventilation, Central apnea, Neonatal respiratory distress,... ORPHA:79345
Mental Retardation, Autosomal Dominant 1
Polyphagia, Ataxia OMIM:156200
Scorpion Envenomation
Abnormal nasal mucus secretion, Ataxia, Acute pancreatitis, Glycosuria, Elevated circulating aspa... ORPHA:466677
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obstructive sleep apnea, Akinesia, Obesity OMIM:618822
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Insulin resistance, Exertional dyspnea, Pubertal developmental failure in... ORPHA:740
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Inability to walk, Dystonia, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis... OMIM:615356
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Recurrent pneumonia, Respiratory distress, Macrovesicular hepatic steatosis, F... OMIM:617303
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Senior-Loken Syndrome 9
Hepatic fibrosis, Hypogonadism, Obesity, Cholestasis OMIM:616629
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight, Hyperactivity OMIM:182290
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Obstructive sleep apnea, Polyphagia, Broad-based gait ORPHA:251028
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Failure to thrive, Pulmonary arterial ... ORPHA:99106
Perrault Syndrome 4
Increased circulating gonadotropin level, Gait ataxia, Disproportionate tall stature, Decreased s... OMIM:615300
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Obesity OMIM:264120
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Type II diabetes mellitus ORPHA:401923
Serotonin Syndrome
Tachypnea, Hepatic failure ORPHA:43116
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, Elevated hepatic transaminase, Difficulty walking, Hepatic steatosis, Ata... ORPHA:98907
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Ataxia, ... OMIM:203700
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Elevated circulating parathyroid hor... OMIM:612462
Ethylene Glycol Poisoning
Tachypnea, Episodic respiratory distress, Ataxia, Abnormal pattern of respiration ORPHA:31826
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Polydipsia, Abnormality of ... ORPHA:3157
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
Smith-Lemli-Opitz Syndrome
Renal hypoplasia, Unilateral renal agenesis, Elevated 7-dehydrocholesterol, Hypocholesterolemia, ... OMIM:270400
1P36 Deletion Syndrome
Camptodactyly of finger, Polyphagia, Dysphagia, Hypothyroidism, Hepatic steatosis, Abnormality of... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Orofaciodigital Syndrome Type 6
Apnea, Gait disturbance, Episodic tachypnea, Ataxia, Failure to thrive ORPHA:2754
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Primary adrenal insufficiency, Hepatic steatosis, Cholestasis, Hep... OMIM:261515
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Absence of secondary sex characteristics, Obesity, Hypothalamic gonadotropin-releasing hormone de... ORPHA:2235
Lysosomal Acid Lipase Deficiency
Fatal liver failure in infancy, Microvesicular hepatic steatosis, Elevated hepatic transaminase, ... ORPHA:275761
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:91355
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hyperglycemia, Hypopituitarism ORPHA:90065
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Tachypnea, Pneumothorax, Hyperventilation ORPHA:90068
Heart Defects, Congenital, And Other Congenital Anomalies
Hyperglycemia, Aplasia of the left hemidiaphragm, Biliary atresia, Umbilical hernia, Glycosuria, ... OMIM:600001
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Elevated hepatic transaminas... ORPHA:79318
Joubert Syndrome 8
Ataxia, Hyperventilation, Hepatomegaly, Prolonged neonatal jaundice, Obesity OMIM:612291
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Type I diabetes mellitus, Asthma, Dentinogenesis imperfecta, Precocious puberty, Obesity OMIM:619269
Malignant Hyperthermia Of Anesthesia
Tachypnea, Acute hepatic failure, Hypercapnia ORPHA:423
Wiedemann-Rautenstrauch Syndrome
Slender build, Loss of facial adipose tissue, Camptodactyly of finger, Truncal ataxia, Congenital... ORPHA:3455
Exercise-Induced Malignant Hyperthermia
Hypocapnia, Lethargy, Crackles, Ataxia, Decreased liver function, Hepatic failure, Tachypnea ORPHA:466650
Obesity-Hypoventilation Syndrome
Hypoventilation, Obesity OMIM:257500
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Obesity, Congenital hypothyroidism, Elevated circulating parathyroid ho... ORPHA:280651
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Glucose intolerance, Macrovesicular hepatic steatosis, Flexion con... OMIM:619127
Meningioma
Enlarged pituitary gland, Pituitary hypothyroidism, Obesity, Abnormality on pulmonary function te... ORPHA:2495
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Thyrotoxicosis with toxic single t... ORPHA:79102
Joubert Syndrome 5
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation, Ataxia OMIM:610188
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sleep apnea, Hypothyroidism, Tracheomalacia, Obesity, Chronic lung disease, Aspiration pneumonia,... ORPHA:444077
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia OMIM:607485
Beckwith-Wiedemann Syndrome
Sleep apnea, Neonatal hypoglycemia, Exocrine pancreatic insufficiency, Pseudohypoparathyroidism, ... ORPHA:116
Goodpasture Syndrome
Restrictive ventilatory defect, Exertional dyspnea, Cough, Crackles, Weight loss, Increased DLCO,... OMIM:233450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive in infancy, Cholestasis, Hepa... ORPHA:247598
Early-Onset Schizophrenia
Polyphagia, Attention deficit hyperactivity disorder ORPHA:96369
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Flexion contracture, Hypoplasia of the ovary, Abdominal obesity OMIM:619321
Dend Syndrome
Hyperglycemia ORPHA:79134
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Bronchiectasis, Pneumonia, Lymphocytic interstitial p... ORPHA:2968
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Chromosome 1P36 Deletion Syndrome