Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
C1q and tumor necrosis factor related protein 9
Synonyms:
9130217G22Rik,  CTRP9

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by C1qtnf9 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 C1qtnf9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... ORPHA:293964
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
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
Hyperinsulinemia, Polyphagia, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes me... ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Muscular dystrophy, Lipodystrophy, Abdominal obesity, Diab... OMIM:615980
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity OMIM:613375
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Lipoatrophy, Hepatic fibrosis, Hypertriglyceridemia, Loss of... ORPHA:280356
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... ORPHA:324575
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... ORPHA:276580
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Cholestasis, Obes... OMIM:609734
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Hypertriglyceridemia, Type II diabet... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... ORPHA:276575
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hepatomegaly, Pancreatitis,... ORPHA:79084
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Tall stature, Obesity OMIM:618406
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Obesity ORPHA:329249
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Marked muscular hypertr... ORPHA:435660
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertr... OMIM:612526
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... ORPHA:276556
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Skeletal muscle hypertrophy, Lipoatrophy, Hypertriglyceridemia, Diabetes mellitus OMIM:613877
Leptin Receptor Deficiency
Polyphagia, Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyro... OMIM:614963
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche, Obesity OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, H... OMIM:610717
Diabetes Mellitus, Ketosis-Prone
Diabetes mellitus, Insulin resistance, Beta-cell dysfunction OMIM:612227
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Obesity OMIM:614962
Obesity Due To Sim1 Deficiency
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity ORPHA:369873
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Marked muscular hypertrophy, Hepatic steatosis, Lipodystrophy, Insulin-re... ORPHA:435651
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Hyperostosis Frontalis Interna
Elevated circulating alkaline phosphatase concentration, Diabetes mellitus, Increased circulating... OMIM:144800
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hepatic s... ORPHA:363400
Insulinoma
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gland, Pitui... ORPHA:97279
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Hepatic failure, Fa... OMIM:617872
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Cirrhosis, Macroglossia, Hyperinsulinemia, Insulin resistance, Hepatic stea... ORPHA:528
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Insulin resistance, I... OMIM:606721
Macrosomia Adiposa Congenita
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity OMIM:248100
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Maternal diabetes, Hyperinsulinemia, Hepatic steatosis, Lipodystrophy, Insulin-resista... OMIM:604367
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Failure to thrive OMIM:606528
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Bardet-Biedl Syndrome 22
Microcephaly, Hypogonadism, Obesity OMIM:617119
Isolated Growth Hormone Deficiency, Type V
Abdominal obesity, Microcephaly, Truncal obesity, Decreased response to growth hormone stimuation... OMIM:618160
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Acquired Partial Lipodystrophy
Hepatic steatosis, Myopathy, Lipoatrophy, Insulin resistance ORPHA:79087
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsuline... ORPHA:263455
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive in infancy... OMIM:232700
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabete... ORPHA:436182
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Distal amyotrophy, Elevated hepatic transaminase, Foot dorsiflexor weakness OMIM:618400
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Marked muscular hypertrophy, Hepatic steatosis,... ORPHA:79083
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, R... OMIM:608594
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Cholest... OMIM:617156
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty, Dorsocervical fat pad, Microce... OMIM:616033
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion cont... OMIM:615381
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Hepatic steatosis, Adipose ... OMIM:151660
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Lipodystrophy, Li... ORPHA:2348
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, ... ORPHA:398079
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function, Failure to thrive, Mi... OMIM:617093
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Macroglossia, Hypothyroidism, Umbilical ... ORPHA:99886
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Cirrhosis, Hyperinsulinemia, Elevated hepatic transaminase, Polyphagia, R... OMIM:269700
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Hepatic steatosis, Failure to thrive, Microcephaly, Myopathy ORPHA:26792
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Hep... OMIM:619048
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Galactokinase Deficiency
Hypercholesterolemia, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatomegal... ORPHA:79237
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Dysphagia... OMIM:613327
Temple Syndrome
Polyphagia, Decreased response to growth hormone stimuation test, Small for gestational age, Type... ORPHA:254516
Retinitis Pigmentosa
Hyperinsulinemia, Atypical scarring of skin, Type II diabetes mellitus, Hypogonadism, Obesity ORPHA:791
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... OMIM:619326
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Carnitine Deficiency, Systemic Primary
Elevated hepatic transaminase, Reduced muscle carnitine level, Hepatic steatosis, Impaired glucon... OMIM:212140
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive OMIM:614582
Meningioma
Enlarged pituitary gland, Lower limb muscle weakness, Pituitary hypothyroidism, Obesity, Neoplasm... ORPHA:2495
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cerebral atrophy, Cholestasis, Decreased liver ... OMIM:614300
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Insulin-resista... ORPHA:79086
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
X-Linked Acrogigantism
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... ORPHA:300373
Perlman Syndrome
Hyperinsulinemia, Tall stature, Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas ... ORPHA:2849
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Polyphagia, Premature pubarche, Central hypothyroidism, Flexion contracture, H... ORPHA:398069
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Keloids, Type II diabetes mellitus, Obesity ORPHA:3085
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Adipose tissue loss, Cholesta... OMIM:246200
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Failur... OMIM:602579
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Hepatic steatosis, Skeletal muscle hypertrophy, Lipodystrophy, Lip... ORPHA:90970
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Cerebral white matter atrophy, Hepatic steatosis, Muscular dystrop... ORPHA:369840
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Acu... OMIM:608600
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Overgrowth, Isosexual precociou... ORPHA:759
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Proximal upper limb muscle hypertrophy, Insulin resistance, Incr... ORPHA:280365
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Insulin-resistant diabetes me... OMIM:262190
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperlipidemia, Obesity OMIM:617885
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, R... OMIM:278000
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Failure to thrive OMIM:615595
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Retinitis Pigmentosa 71
Elevated hepatic transaminase, Pancreatitis, Obesity OMIM:616394
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Myopathy, Macrovesicular hepatic steatosis, Failure to thrive OMIM:618234
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, ... ORPHA:370
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, Obesity ORPHA:177910
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypertriglycerid... OMIM:306000
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Diabetes mellitus, Polyphagia OMIM:222100
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Mehmo Syndrome
Male hypogonadism, Hypoplasia of the corpus callosum, Hypoglycemia, Obesity, Delayed puberty, Sma... OMIM:300148
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Adr... OMIM:619386
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Glucose intolerance, Absence of secon... ORPHA:785
Rajab Interstitial Lung Disease With Brain Calcifications 2
Decreased muscle mass, Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Hypopitu... OMIM:619013
Carcinoma Of Esophagus
Dysphagia, Weight loss, Obesity ORPHA:70482
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Abnormal en... ORPHA:264580
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Joint contracture of the hand, Obesity OMIM:264010
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Obesity OMIM:234350
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis, Lipodystrophy, Failure to thrive, Primary hypot... ORPHA:300536
Temple Syndrome
Hypercholesterolemia, Maturity-onset diabetes of the young, Overweight, Flexion contracture, Hype... OMIM:616222
Narcolepsy Type 1
Obesity ORPHA:2073
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Elevated hepatic transaminase, Hypergonadotropic hypogonad... OMIM:203800
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity OMIM:613886
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia OMIM:615238
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Macrovesicular hepatic steatosis, Cholestasis, Hepatomegaly, D... OMIM:614924
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Adrenomyodystrophy
Primary adrenal insufficiency, Myopathy, Hepatic steatosis, Pituitary corticotropic cell adenoma OMIM:300270
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Distal arthrogrypos... ORPHA:42
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Mehmo Syndrome
Microcephaly, Diabetes mellitus, Obesity ORPHA:85282
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Microcephaly, Hepatic steatosis OMIM:615119
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Failure to... OMIM:615438
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepati... OMIM:256810
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Glucose intolerance, Insulin resistance, Hepatic ... OMIM:617253
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased T3/T4 ratio, Omphalocele, Impaired sensitivity to thyroid hormone, Congen... OMIM:614450
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Bardet-Biedl Syndrome 2
Hypogonadism, Diabetes mellitus, Obesity OMIM:615981
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Abnormality of the extraocular muscles, Decreased muscle mass, Elevated hepatic transa... ORPHA:298
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Glucose intolerance, Flexion contracture, Insulin-resistant diabetes mellitus, ... OMIM:608612
Bardet-Biedl Syndrome 9
Polyphagia, Truncal obesity, Hyperglycemia, Polydipsia, Obesity OMIM:615986
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Facial palsy, Failure to thriv... OMIM:606407
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Neonatal hyp... ORPHA:71212
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Dysphagia, Elevated hepatic transaminase, Diffuse hepatic steatosis OMIM:264470
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Weight loss, Hyperhidrosis OMIM:275000
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Elevated h... ORPHA:525731
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism OMIM:275120
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypothyroidism, Hepatic steatosis, Tendon xanthomatosis, Acute... ORPHA:412
Adrenomyodystrophy
Primary adrenal insufficiency, Myopathy, Hepatic steatosis, Failure to thrive ORPHA:977
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Hypogonadism, Failure to thrive ORPHA:261483
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Spastic Paraplegia 11, Autosomal Recessive
Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum, Dysphagia, L... OMIM:604360
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Fulminant hepatitis... OMIM:618549
Rafiq Syndrome
Obesity OMIM:614202
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperinsulinemia, Impaired glucose tolerance, Increased adipose tissue around the neck, Flexion c... OMIM:248370
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Lack of facial subcutaneous fat, Elevated hepatic transaminas... ORPHA:2959
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight, Elevated hepatic transaminase ORPHA:890
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Delayed puberty, Obesity, Hypogonadism ORPHA:141333
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic steatosis... ORPHA:209902
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Failure to thrive... OMIM:618805
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity OMIM:610628
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
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Polyphagia, Camptodactyly, Flexion contracture, Failure to th... OMIM:615547
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Type II diabetes mellitus, Obesity ORPHA:3191
Nephronophthisis 15
Hepatic failure, Obesity OMIM:614845
Combined Oxidative Phosphorylation Deficiency 15
Microcephaly, Abnormal cerebral white matter morphology, Obesity OMIM:614947
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Obesity ORPHA:254531
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Immunodeficiency 61
Obesity OMIM:300310
Familial Multiple Lipomatosis
Insulin resistance, Hypoplasia of the corpus callosum, Lipodystrophy, Overgrowth, Cerebral calcif... ORPHA:199276
Cubitus Valgus With Mental Retardation And Unusual Facies
Microcephaly, Truncal obesity OMIM:300471
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Obesity OMIM:615418
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98855
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Obesity OMIM:616756
Craniopharyngioma
Polyphagia, Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism,... ORPHA:54595
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Congenital hypothyroidism, Microcep... ORPHA:352530
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Impaired glucose tolerance, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hep... OMIM:615630
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Hypothyroidism, Abnormality of the parath... ORPHA:1227
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatic steatosis, Intrahepatic cholestasis, Rhabdomyolysis, Hypog... OMIM:614921
Chylomicron Retention Disease
EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic steatosis, Increased hepatoc... ORPHA:71
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Dysphagia, Centrally nu... OMIM:619178
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Hepatic steatosis, Tall stature, Type II diab... ORPHA:91
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity ORPHA:88643
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:98754
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Decrea... OMIM:615486
Familial Chylomicronemia Syndrome
Hepatic steatosis, Decreased body weight, Recurrent pancreatitis, Acute pancreatitis, Jaundice, H... ORPHA:444490
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypogonadism, Eunuchoid habitus, Obe... ORPHA:2234
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Cessation of head growth, Obesity ORPHA:411515
Summitt Syndrome
Obesity OMIM:272350
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Rhabdomyolysis, Hepat... ORPHA:228305
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Citrullinemia Type Ii
Hypercholesterolemia, Decreased body mass index, Elevated hepatic transaminase, Hepatic steatosis... ORPHA:247585
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:98793
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity OMIM:600955
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Scarring, Periporta... ORPHA:101330
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Fasting hypoglycemia, Hepatic steatosis, Cerebral atrophy, Impaired gluconeogenesis, Hypoglycemia... OMIM:261680
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Absence of secondary sex characteristics, Obesity, Hypothalamic gonadotropin-releasing hormone de... ORPHA:2235
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Obesity OMIM:264120
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:177901
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased serum testosterone concentration, Small for g... OMIM:300869
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Obesity OMIM:603233
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Elevated hepatic transaminase, Hepatic steatosis, Nonketotic hypogl... ORPHA:99901
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Senior-Loken Syndrome 9
Hepatic fibrosis, Hypogonadism, Obesity, Cholestasis OMIM:616629
Combined Oxidative Phosphorylation Deficiency 21
Hypoplasia of the corpus callosum, Limb hypertonia, Hepatic steatosis OMIM:615918
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Borjeson-Forssman-Lehmann Syndrome
Microcephaly, Delayed puberty, Obesity OMIM:301900
Semilobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Central hypothyroidism, Flexi... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Central hypothyroidism, Flexi... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Central hypothyroidism, Flexi... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Dysphagia, Central hypothyroidism, Flexi... ORPHA:93924
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Proximal lower limb ... ORPHA:98853
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Obesity ORPHA:2183
6Q16 Microdeletion Syndrome
Polyphagia, Obesity ORPHA:171829
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Fryns Macrocephaly
Truncal obesity, Cerebral atrophy, Knee flexion contracture OMIM:600302
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Flexion contracture, Pancreatic fibrosis, Steatorrhea, Hepatic... OMIM:616263
Bardet-Biedl Syndrome 21
Overweight, Elevated hepatic transaminase, Obesity OMIM:617406
Prader-Willi-Like Syndrome
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... ORPHA:398073
Silver-Russell Syndrome
Decreased muscle mass, Insulin resistance, Premature adrenarche, Failure to thrive in infancy, Hy... ORPHA:813
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepatomegaly, Cerebral edema OMIM:201450
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Hepatic steatosis, Elevated circulating alkaline phosphatase concen... ORPHA:52430
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free ... ORPHA:99832
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Macroglossia, Insulin resistance, Hypothyroidism, Increased circulating and... ORPHA:769
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Preeclampsia
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Small for gestational age,... ORPHA:275555
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Huntington Disease
Choking episodes, Decreased body mass index, Polyphagia, Abnormal cerebral white matter morpholog... ORPHA:399
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Microcephaly, Agenesis of corpus callosum, Obesity ORPHA:96168
Hemochromatosis Type 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypogonadism, Diabetes mellitus, Abno... ORPHA:79230
Laron Syndrome
Hypercholesterolemia, Hypohidrosis, Hypoglycemia, Delayed puberty, Truncal obesity, Abnormality o... ORPHA:633
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin-resistant diabetes mellitus, Insulin r... ORPHA:90301
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Dysphagia, Hypoglycemia, Hepatomegaly, Failure to thrive, Microcep... OMIM:618958
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatomegaly, Transie... OMIM:255120
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Inguinal hernia, Truncal obesity, Hip contracture, Obesity OMIM:618363
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Foot dorsiflexor weakness, Obesity OMIM:618124
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Retinopathy, Pigmentary, And Mental Retardation
Microcephaly, Hypogonadism, Truncal obesity OMIM:268050
Short Syndrome
Abnormal dental enamel morphology, Insulin resistance, Lipodystrophy, Weight loss, Inguinal herni... ORPHA:3163
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic steatosis, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant h... OMIM:231530
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young, Truncal obesity, Small for gestationa... ORPHA:96184
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Perisylvian polymicrogyria, Ob... OMIM:618443
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Hypoplasia of the corpus callosum, Oral-pharyngeal dysphagia, Microcephaly, Lipoma, Obesity ORPHA:480907
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Eunuchoid habitus, Decreased ci... OMIM:308750
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating ho... ORPHA:226313
Whipple Disease
Insulin resistance, Hypothyroidism, Hepatomegaly, Cachexia, Splenomegaly, Myositis, Polydipsia ORPHA:3452
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Increased circulating lactate dehydrogen... OMIM:600649
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Hypoglycemia, Failure ... OMIM:220111
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Truncal obesity, Diabetes mellitus, Failure to thrive, Macronodular adrenal hyperplasia ORPHA:189427
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Muscular dystrophy, Progressive distal muscular atrophy, Obesity ORPHA:459033
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Secondary Short Bowel Syndrome
Polyphagia, Central hypothyroidism, Weight loss, Steatorrhea, Cholestasis, Primary hypothyroidism... ORPHA:95427
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatic fibrosis, Hepatomegaly, Distal amyotrophy, M... OMIM:232400
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Basal ganglia calcification, Elevate... OMIM:612462
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Increased ... OMIM:615830
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Cerebral white matter atrophy, Hypoplasia of the corpus callosum, ... ORPHA:464282
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Hepatic failure,... ORPHA:541423
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:601165
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Failure to thrive, Hepatic failure OMIM:617049
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cerebral atrophy, Rhabdomyolysis... OMIM:124000
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH le... OMIM:219090
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia, Chronic hepatic failure, Lower limb muscle weakness, Failure to thrive ... ORPHA:746
Prader-Willi Syndrome
Decreased muscle mass, Hyperinsulinemia, Polyphagia, Failure to thrive in infancy, Obesity, Adren... OMIM:176270
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Obesity OMIM:614613
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hypoplasia of the corpus callosum, Cerebral atrophy, He... OMIM:613489
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Prader-Willi Syndrome
Abdominal obesity, Polyphagia, Premature pubarche, Premature adrenarche, Abnormal cerebral white ... ORPHA:739
Septo-Optic Dysplasia Spectrum
Hypohidrosis, Maternal diabetes, Agenesis of corpus callosum, Absent septum pellucidum, Anterior ... ORPHA:3157
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Elevated hepatic transaminase... OMIM:613404
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Leprechaunism
Fasting hypoglycemia, Hyperinsulinemia, Insulin resistance, Recurrent infantile hypoglycemia, Pos... ORPHA:508
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture, Insulin-resistant diabet... OMIM:233805
Ataxia-Telangiectasia
Elevated hepatic transaminase, Aplasia/Hypoplasia of the thymus, Delayed puberty, Type II diabete... ORPHA:100
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Nonketotic hypoglycemia, Exercis... OMIM:201475
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hypoplasia of the corpus callosum, Hypothyroidism, Hepatic st... ORPHA:254346
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroidism, Basal ganglia calcification, Elevate... OMIM:103580
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Hypoplasia of the corpus callosum, Abnormal cerebral white matt... OMIM:616672
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Macroglossia, Hypoplasia of the corpus callosum, Abnormal cerebral white matte... OMIM:300354
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Type II diabetes mellitus, Obesity OMIM:618620
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Weight loss, ... ORPHA:65682
Hemochromatosis Type 4
Hepatic steatosis, Cirrhosis, Congenital hepatic fibrosis ORPHA:139491
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Eunuchoid habitus, Decreased ci... OMIM:308700
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Elevated gamma-glutam... ORPHA:30391
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
EMG: myopathic abnormalities, Overweight, Centrally nucleated skeletal muscle fibers, Delayed pub... ORPHA:486815
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypothyroidism, Abnormal subcutane... OMIM:212065
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Dysphagia, Hepatomegaly, Generalized amyotrophy, Failure to thrive OMIM:613561
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased seru... OMIM:618841
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Postprandial hyperglycemia, Hepatocellular carcinoma, Elevated circulating ... ORPHA:2088
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Obesity,... ORPHA:79444
Combined Oxidative Phosphorylation Deficiency 11
Pachygyria, Hypoplasia of the corpus callosum, Hepatic steatosis, Hepatomegaly, Cerebral cortical... OMIM:614922
Trisomy 5P
Obesity ORPHA:1742
48,Xxyy Syndrome
Abnormal dental enamel morphology, Hypergonadotropic hypogonadism, Tall stature, Inguinal hernia,... ORPHA:10
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function, Small for gestational age,... OMIM:615160
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Hypothyroidism, Inguinal hernia, Truncal obesity, Simplified gyral pattern, M... OMIM:616541
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Lipodystrophy, D... OMIM:270450
Bangstad Syndrome
Goiter, Insulin-resistant diabetes mellitus, Small for gestational age, Cerebral hypoplasia, Prim... OMIM:210740
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypoglycemia, Hepatic failure, C... OMIM:611126
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Hypoplasia of the corpus callosum, Small pituitary gland, Secondar... OMIM:617395
Bardet-Biedl Syndrome
Hepatic fibrosis, Skeletal muscle atrophy, Hypogonadism, Hypoplasia of the ovary, Obesity ORPHA:110
Macrocephaly/Autism Syndrome
Hepatomegaly, Obesity, Splenomegaly OMIM:605309
Rett Syndrome
Increased serum leptin, Primary microcephaly, Failure to thrive, Cholecystitis, Skeletal muscle a... ORPHA:778
Sheehan Syndrome
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:91355
Werner Syndrome
Slender build, Chondrocalcinosis, Insulin resistance, Lipodystrophy, Lipoatrophy, Thyroid carcino... ORPHA:902
Placental Insufficiency
Small for gestational age, Insulin resistance ORPHA:439167
Cebalid Syndrome
Polymicrogyria, Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Rhabdomyolysis, Hypoglyc... OMIM:212138
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Skeletal muscle steatosis, Glycosuria, Hepatomegaly, Progressive leukoencephalopathy, Decreased l... ORPHA:436271
Perrault Syndrome 4
Increased circulating gonadotropin level, Disproportionate tall stature, Decreased serum estradio... OMIM:615300
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrophy, Hypoplasia of t... ORPHA:2822
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypoglycemia, Glycosuria, Hepatomegaly, Diabetes mellitus, Large for gestational age OMIM:616026
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hypogonadism OMIM:613313
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Elevated hepatic transaminase, Polyphagia, Premature adrenarche, Polydipsia, Centra... ORPHA:293987
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Hypoplasia of the corpus callosum, Obesity ORPHA:521390
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Fasting hypoglycemia, Decreased muscle mass, Oral aversion, Insulin resistance, Premature adrenar... ORPHA:96182
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Neonatal hypoglycemia, Hypothyroidism, Hepatic steatosis, Cerebral... ORPHA:445038
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Fail... ORPHA:2089
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Hypoplasia of the corpus callosum, Obesity, Thick corpus callosum, Micr... ORPHA:464288
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Elevated hepatic transaminase, Increased muscle lipid content, Nonketotic hy... OMIM:608836
Summitt Syndrome
Camptodactyly of finger, Tall stature, Obesity ORPHA:3210
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Microcephaly, Truncal obesity ORPHA:85280
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Delayed puberty, Anhidrosis, Obesity ORPHA:251004
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Disproportionate tall stature, Tall stature, Inguinal hernia, Pancreatitis, Fa... OMIM:236200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Elevated hepatic transaminase, Abnormal enzyme/coenzym... ORPHA:17
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Type II diabetes mellitus, Sple... OMIM:616860
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Polydipsia, Jaundice, Abnormali... ORPHA:93111
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Cerebral atrophy, Limb hypertonia, Dilation of lateral v... OMIM:617296
Microtriplication 11Q24.1
Microcephaly, Hyperlipidemia, Obesity ORPHA:289522
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Gitelman Syndrome
Maternal diabetes, Graves disease, Glucose intolerance, Chondrocalcinosis, Insulin resistance, Pr... ORPHA:358
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Cog4-Cdg
Hypercholesterolemia, Fatal liver failure in infancy, Cirrhosis, Elevated hepatic transaminase, H... ORPHA:263501
Short Stature-Obesity Syndrome
Obesity OMIM:269870
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Increased hepatocellular lipid droplets, Glycosuria, H... OMIM:220110
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Elevated hepatic transaminase... OMIM:208085
Baralle-Macken Syndrome
Microcephaly, Obesity OMIM:619255
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Ele... OMIM:235555
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
D-Bifunctional Protein Deficiency
Decreased muscle mass, Corpus callosum atrophy, Elevated hepatic transaminase, Hypoplasia of the ... OMIM:261515
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Agenesis of corpus callosum, Obesity ORPHA:166024
Clark-Baraitser Syndrome
Obesity OMIM:617752
15Q24 Microdeletion Syndrome
Obesity, Small for gestational age, Hernia, Failure to thrive, Congenital diaphragmatic hernia, M... ORPHA:94065
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Elevated hepatic transaminase, Hypoketotic hypoglycemia, Exercise-induced rhabdomyoly... ORPHA:26793
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Calcinosis, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia ORPHA:90154
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia, Failure to thrive OMIM:210200
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Steator... OMIM:607765
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, EMG: myopathic abnormalities, Increased intramyocellular lipid droplets, ... ORPHA:98907
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cerebral atrophy, Cholelithiasis, Hepatomegaly, ... OMIM:619273
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Thyroiditis, Hepatoce... ORPHA:2137
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Flexion contracture of toe, Obesity ORPHA:3409
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Biliary tract abnormality, Hepatic fibrosis, Left ventricular hyp... OMIM:209900
Mental Retardation, Autosomal Recessive 13
Hypoplasia of the corpus callosum, Truncal obesity, Secondary microcephaly OMIM:613192
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Obesity,... ORPHA:79443
Dilated Cardiomyopathy With Ataxia
Bilateral basal ganglia lesions, Elevated hepatic transaminase, Neonatal hypoglycemia, Microvesic... ORPHA:66634
Cushing Disease
Lipodystrophy, Truncal obesity, Failure to thrive, Diabetes mellitus, Myopathy, Adrenal hyperplas... ORPHA:96253
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Abnormality of the septum pellucidum, Cerebral atrophy, Umbilical hernia, Obesity ORPHA:171839
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Hepatic steatosis, Hypoglycemia, Glycosuria, Hepatomegaly, Jaundice, Hepatic periport... OMIM:231680
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Anterior pituitary hypoplas... ORPHA:226307
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Neonatal hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hy... ORPHA:348
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Pelvic girdle muscle weakness, Shoulder girdle muscle we... ORPHA:273
Pearson Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Hypothyroidism, Hypoplastic spl... ORPHA:699
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hepatic steatosis, Hypoketotic hypoglycemia, Reduced carnitine O-palmitoyltransferase... ORPHA:228308
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Wagr Syndrome
Microcephaly, Obesity ORPHA:893
Atypical Werner Syndrome
Delayed puberty, Type II diabetes mellitus, Skeletal muscle atrophy, Generalized lipodystrophy, H... ORPHA:79474
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
X-Linked Intellectual Disability, Hedera Type
Hypoplasia of the corpus callosum, Left ventricular hypertrophy, Hypomimic face, Obesity ORPHA:93952
Chung-Jansen Syndrome
Obesity OMIM:617991
Pick Disease Of Brain
Polyphagia OMIM:172700
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Maternal diabetes ORPHA:45452
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Intrahepatic cholestasis with episodic jaundice, Ne... ORPHA:100085
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Carcinoid Syndrome
Intestinal carcinoid, Elevated hepatic transaminase, Atypical pulmonary carcinoid tumor, Small in... ORPHA:100093
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Pseudohypoparathyroidism, Microcephaly, Obesity OMIM:617157
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Decreased muscle mass, Flexion contracture of digit, Truncal obesity, Reduced subcutaneous adipos... ORPHA:3041
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Cirrhosis, Elevated hepatic transaminase, Flexion contracture, ... ORPHA:367
Frontotemporal Dementia
Polyphagia OMIM:600274
Gracile Syndrome
Elevated hepatic iron concentration, Hepatic steatosis, Cirrhosis, Cholestasis ORPHA:53693
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic failure, Skeletal muscle atrop... ORPHA:156
Luscan-Lumish Syndrome
Overgrowth, Polyphagia, Obesity OMIM:616831
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Fatal liver failure in infancy, Microvesicular hepatic steatos... ORPHA:275761
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Glucose intolerance, Elevated hepatic transaminase, Impaired glucose tolerance, Facial palsy, Fai... OMIM:610131
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cerebral atrophy, Cho... OMIM:613658
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemi... OMIM:613027
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Glucose intolerance, Hepatocellular carcinoma, Hepatome... OMIM:235200
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated hepatic transaminase, Extrahepatic cholestasis, Exocrine pancreatic ... ORPHA:1333
Solitary Fibrous Tumor/Hemangiopericytoma
Abnormality of the peritoneum, Neoplasm of the liver, Weight loss, Hypoinsulinemia, Hypoglycemia,... ORPHA:2126
Crimean-Congo Hemorrhagic Fever
Jaundice, Elevated hepatic transaminase, Hepatic steatosis ORPHA:99827
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
EMG: myopathic abnormalities, Obesity OMIM:618822
Shox-Related Short Stature
Skeletal muscle hypertrophy, Obesity ORPHA:314795
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal calcium-phosphate regulating hormone level, Neoplasm of the thyroid gland, Hyper... ORPHA:457059
11Q22.2Q22.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Obesity ORPHA:444002
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hypercholesterolemia, Xanthelasma, Increased hepatic glycogen content, Thy... ORPHA:79259
Chromosome 16P13.3 Deletion Syndrome, Proximal
Microcephaly, Polysplenia, Failure to thrive, Obesity OMIM:610543
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Hypoglycemia, Insulin resistance ORPHA:230
Cornelia De Lange Syndrome 5
Microcephaly, Hypogonadism, Truncal obesity OMIM:300882
Angelman Syndrome
Polyphagia, Dysphagia, Cerebral dysmyelination, Cerebral cortical atrophy, Precocious puberty in ... ORPHA:72
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Mu... ORPHA:2570
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hepatome... OMIM:203700
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic multinodular goiter, Graves disease, Increased intramyocellular lipid d... ORPHA:79102
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Skeletal muscle atrophy, Microcephaly, Hypogonadism ORPHA:127
13Q12.3 Microdeletion Syndrome
Obesity, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia ORPHA:412035
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Wolcott-Rallison Syndrome
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Hypothyroidism, Central hypothy... ORPHA:1667
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Delayed puberty, Hypogonadotropic hypogon... ORPHA:478
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Hep... OMIM:616278
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Cog8-Cdg
Elevated hepatic transaminase, Hypoglycemia, Failure to thrive, Skeletal muscle atrophy, Progress... ORPHA:95428
Mitochondrial Trifunctional Protein Deficiency
Elevated hepatic transaminase, Hypoketotic hypoglycemia, Rhabdomyolysis, Cholestasis, Small for g... OMIM:609015
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Umbilical hernia, Failure to thrive, Microcephaly, Lissencephaly, Obesity OMIM:612938
Smith-Magenis Syndrome
Hypercholesterolemia, Aplasia/Hypoplasia of the corpus callosum, Hypothyroidism, Failure to thriv... ORPHA:819
Xp22.13P22.2 Duplication Syndrome
Microcephaly, Truncal obesity, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hypothyroidism, Hepatic steatosis, Steatorrhea, Hypocho... ORPHA:14
Joubert Syndrome 8
Hepatomegaly, Prolonged neonatal jaundice, Obesity OMIM:612291
48,Xxxy Syndrome
Abnormal dental enamel morphology, Tall stature, Inguinal hernia, Type II diabetes mellitus, Hypo... ORPHA:96263
Chromosome 3Q29 Duplication Syndrome
Microcephaly, Obesity OMIM:611936
Angelman Syndrome Due To A Point Mutation
Dysphagia, Abnormal eating behavior, Cessation of head growth, Secondary microcephaly, Obesity ORPHA:411511
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Streak ovary, Insulin-resistant diabetes mellitus, Delayed pube... ORPHA:3464
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Microcephaly, Hyperintensity of cerebral white matter on MRI... OMIM:619322
Down Syndrome
Macroglossia, Hypothyroidism, Umbilical hernia, Type II diabetes mellitus, Obesity ORPHA:870
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Increased ser... ORPHA:100080
Adiposis Dolorosa
Hypothyroidism, Xerostomia, Obesity ORPHA:36397
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651