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Gene: C1qtnf9 MGI:3045252

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Fatty replacement of skeletal muscle, Elev... ORPHA:171706
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... ORPHA:71529
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Obesity, Overgrowth, Polyphagia OMIM:620195
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Insulin resistance, Obesity, Type II diabetes mellitus, Hypercholesterolemi... OMIM:615703
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... ORPHA:276575
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Lower limb muscle weakness, Insulin re... OMIM:615980
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas ORPHA:2398
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... ORPHA:435660
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Increased m... OMIM:610717
Leptin Deficiency Or Dysfunction
Polyphagia, Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... ORPHA:528
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis, Myopathy ORPHA:79087
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Distal amyotrophy, Hepatic steatosis, Foot dorsiflexor weakness OMIM:618400
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... ORPHA:436182
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Obesity, Absen... ORPHA:398079
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Bardet-Biedl Syndrome 22
Polyphagia, Hypogonadism, Obesity, Large for gestational age OMIM:617119
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... ORPHA:79083
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:151660
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... OMIM:608594
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... ORPHA:2348
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Impulsivity, Precocious puberty, F... ORPHA:398069
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Centrally nucle... OMIM:613327
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi... ORPHA:35878
Cholesteryl Ester Storage Disease
Acute hepatic failure, Adrenal calcification, Hepatic fibrosis, Elevated gamma-glutamyltransferas... OMIM:278000
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemi... ORPHA:69663
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonadotropic hypogonadi... ORPHA:79237
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Mpi-Cdg
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... ORPHA:79319
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia, Ta... ORPHA:2849
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... ORPHA:79086
14Q11.2 Microduplication Syndrome
Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Polyphagia ORPHA:261229
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... OMIM:619386
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased intraabdominal fat, Hepatic steatosis, Muscle hypertrophy of the lower extremities, Hep... ORPHA:280365
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, ... OMIM:246200
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... ORPHA:98908
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... ORPHA:905
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... OMIM:616829
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... OMIM:300148
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... ORPHA:94086
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia OMIM:222100
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... OMIM:300942
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin level, Abse... ORPHA:785
Mehmo Syndrome
Diabetes mellitus, Agitation, Obesity ORPHA:85282
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... ORPHA:300536
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Narcolepsy Type 1
Obesity ORPHA:2073
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... OMIM:203800
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Abnormal thyroid morp... ORPHA:139507
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... OMIM:617253
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... ORPHA:369
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Cachexia, Abn... ORPHA:42
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Hypog... ORPHA:264580
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... OMIM:264470
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Obesity, Aggressive behavior OMIM:616521
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... OMIM:606407
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Hypothyroidism, Hepat... OMIM:619013
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism ORPHA:261483
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia OMIM:615986
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level... ORPHA:71212
Bardet-Biedl Syndrome 19
Hepatic steatosis, Hypogonadism, Obesity OMIM:615996
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Hypo... ORPHA:73272
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... ORPHA:525731
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypog... OMIM:602579
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism OMIM:275120
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... OMIM:615547
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas... OMIM:615363
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hypothyroidism, Tendon... ORPHA:412
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Congenital Macroglossia
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight ORPHA:890
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency, Myopathy ORPHA:977
Macrocephaly-Intellectual Disability-Autism Syndrome
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit... ORPHA:210548
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased muscle mass, Hypergonadotropic hypogonadism, Hypogonadot... ORPHA:298
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... OMIM:615438
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci... ORPHA:79303
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity ORPHA:411515
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... OMIM:618805
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Hyp... ORPHA:247585
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... OMIM:618549
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Failure to thrive, Myopathy, Macrovesicular hepatic steatosis OMIM:618234
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Decreased liver function, Dysphagia, Failu... ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Neoplasm of the pancreas, Multiple joint contra... ORPHA:2959
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, EMG: myopathic abnormalities, M... ORPHA:71
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... OMIM:248370
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, A... ORPHA:98855
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Type II diabetes mellitus, Obesity ORPHA:3191
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... ORPHA:2088
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... ORPHA:91
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... ORPHA:209902
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Kn... OMIM:214150
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Myopathy, Reduced carnitine O-palmit... ORPHA:228305
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Summitt Syndrome
Obesity OMIM:272350
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... OMIM:614921
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity OMIM:603233
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal o... OMIM:219080
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, A... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, A... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Lipodystrophy, A... ORPHA:98853
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... OMIM:256810
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Short Syndrome
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... OMIM:269880
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosple... ORPHA:444490
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Overweight, Obesity OMIM:617406
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Increased circulat... OMIM:600649
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated alkaline phosphata... OMIM:616828
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... OMIM:251880
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Rett Syndrome
Skeletal muscle atrophy, Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abn... ORPHA:778
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... ORPHA:3111
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Myopathy, Increase... ORPHA:99901
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resist... ORPHA:813
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Senior-Loken Syndrome 9
Hypogonadism, Hepatic fibrosis, Cholestasis, Obesity OMIM:616629
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin... OMIM:600430
Whipple Disease
Hepatomegaly, Myositis, Cachexia, Anorexia, Splenomegaly, Insulin resistance, Polydipsia, Hypothy... ORPHA:3452
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver... ORPHA:65682
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... ORPHA:90301
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Delayed puberty... ORPHA:633
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... OMIM:231530
Secondary Short Bowel Syndrome
Cholestasis, Weight loss, Central hypothyroidism, Primary hypothyroidism, Steatorrhea, Failure to... ORPHA:95427
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Type II diabetes mellitus, Obesity OMIM:618620
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Thenar muscle atrophy, Obesity, Dysphagia, Lower limb muscle weakness OMIM:604360
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... OMIM:610198
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth ORPHA:199276
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACT... OMIM:219090
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type... ORPHA:10
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Hyperhid... ORPHA:33543
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
19P13.12 Microdeletion Syndrome
Hyperactivity, Precocious puberty, Hypothyroidism, Hyperlipidemia, Obesity, Self-injurious behavi... ORPHA:254346
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Myopathy, Limb-girdle muscular dystrophy, Muscular d... ORPHA:369840
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Abnor... ORPHA:79240
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:615486
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Abnormality of end... ORPHA:79230
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating alanine aminotransferase concentration, Cholestasis... OMIM:614300
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Prader-Willi Syndrome
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:176270
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... OMIM:605814
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior OMIM:617991
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... OMIM:615812
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... OMIM:209900
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Werner Syndrome
Skeletal muscle atrophy, Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid ca... ORPHA:902
Monosomy 13Q34
Insulin resistance, Hepatic steatosis, Obesity ORPHA:96168
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... OMIM:616263
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Rhabdomyolysis, Cholestasis, Skeletal myopathy,... ORPHA:746
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Elevated circulating alkaline phosphatase concentration, Ge... ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis, Limb hypertonia OMIM:615918
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Distal lower limb muscle weakness, Obesity, Muscular dystrophy ORPHA:459033
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... ORPHA:486815
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Abnormal temper ta... ORPHA:163681
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity, Oral-pharyngeal dysphagia ORPHA:480907
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Knee flexion contracture, Hepati... ORPHA:79322
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... OMIM:612462
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity OMIM:612463
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity ORPHA:3077
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid... OMIM:619487
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... OMIM:616026
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Rhabdomyolysis, Hepatic steatosis, Neo... OMIM:212138
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Trisomy 5P
Obesity ORPHA:1742
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior OMIM:614202
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... ORPHA:541423
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Abnormality of the musculature of the lower limbs, Obesity ORPHA:464282
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Polydipsia, Decreased response to growth hormone stimulation test,... ORPHA:293987
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Facial hypotonia, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist f... OMIM:300055
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Obesity, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis ORPHA:110
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo... OMIM:182290
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Skeletal muscle atrophy, Insulin resistance, H... ORPHA:508
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... OMIM:261750
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Hypohidrosis, Polydipsia, Abnormality ... ORPHA:3157
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Hyperactivity, Aggressive behavior, Macroglossia, Abdominal obesity... OMIM:300354
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Hepatocellular necrosis, ... OMIM:201475
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio... ORPHA:96182
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Inguinal hernia, Disproportionate tall stature, Failure to thrive, Hepatic steatosis, Pancreatiti... OMIM:236200
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... ORPHA:72
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Abnormal dental enamel morphology, Obesity, Delayed puberty, Polyphagia ORPHA:251004
Luscan-Lumish Syndrome
Polyphagia, Overgrowth, Obesity, Aggressive behavior OMIM:616831
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Repetitive compulsive behavior, ... ORPHA:66634
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Foot dorsiflexor weakness OMIM:618124
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Overweight, Repetitive compulsive behavior, Flexion contracture, Attention def... ORPHA:391372
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... ORPHA:93111
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestation... ORPHA:26793
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Hypothyroidism OMIM:616541
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Type II ... OMIM:616860
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... ORPHA:412035
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Microtriplication 11Q24.1
Hyperlipidemia, Obesity, Bruxism ORPHA:289522
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes insipidus... OMIM:613404
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... OMIM:300972
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Abnormal cir... ORPHA:79474
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... OMIM:607765
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Abnormal circulating enzyme... ORPHA:17
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Decreased muscle mass, Truncal obesity, Hypogonadism, Flexio... ORPHA:3041
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Obesity, Flexion contracture of toe ORPHA:3409
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Abnormal repetitive manne... ORPHA:819
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Oral-pharyngeal d... ORPHA:273
Gitelman Syndrome
Neoplasm of the pancreas, Salt craving, Maternal diabetes, Insulin resistance, Rhabdomyolysis, Hy... ORPHA:358
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... OMIM:210740
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, At... ORPHA:100080
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Skeletal muscle steatosis, Decreased liver function, Glycosuria, Diffuse hepatic st... ORPHA:436271
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Ragge... OMIM:124000
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ... ORPHA:1333
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Hypergonadotropic hypogonadism, Hypothyroidism, Abno... OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... OMIM:619484
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... OMIM:618430
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Hypertriglyceri... ORPHA:275761
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... ORPHA:100085
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Wilson Disease
Hypoparathyroidism, Hepatomegaly, Acute hepatic failure, Elevated circulating aspartate aminotran... OMIM:277900
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Hypothyroidism, Neonatal hypoglycemia ORPHA:445038
Baralle-Macken Syndrome
Obesity OMIM:619255
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Microvesicular hepatic steatosis,... OMIM:617156
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity ORPHA:464288
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618089
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Myopathy OMIM:275630
Pearson Syndrome
Hypoparathyroidism, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Elevated hepatic transami... ORPHA:699
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Skeletal muscle atrophy, Portal h... ORPHA:367
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli... ORPHA:96263
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... OMIM:608836
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... OMIM:261515
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... ORPHA:2126
Tatton-Brown-Rahman Syndrome
Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm ORPHA:404443
Congenital Myopathy 9A
EMG: myopathic abnormalities, Obesity OMIM:618822
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Abnormal circulating enzyme ... ORPHA:79259
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Shox-Related Short Stature
Skeletal muscle hypertrophy, Obesity ORPHA:314795
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di... OMIM:619312
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity ORPHA:589905
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth OMIM:605309
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal muscle fiber morpholog... ORPHA:79102
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Facial hypotonia, Obesity, Dysphagia, Decreased body weight ORPHA:589821
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi... ORPHA:284180
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis OMIM:231680
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity, Hypomimic face ORPHA:93952
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ... ORPHA:85293
Carpenter Syndrome
Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... OMIM:615926
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Aggressive behavior OMIM:620191
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, At... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, At... ORPHA:100082
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D... ORPHA:478
White-Sutton Syndrome
Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, H... OMIM:616364
Wagr Syndrome
Obesity ORPHA:893
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Aggressive behavior OMIM:619056
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Anorexi... ORPHA:20
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Down Syndrome
Obesity, Macroglossia, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism ORPHA:870
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, We... OMIM:220110
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Adiposis Dolorosa
Xerostomia, Hypothyroidism, Obesity ORPHA:36397
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity OMIM:615994
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... ORPHA:98794
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Hepatic steatosis, Decreased liver function, Myopathy OMIM:614922
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis OMIM:619273
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism, Skeletal muscle atrophy ORPHA:127
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Trisomy 18P
Polyphagia, Facial palsy, Attention deficit hyperactivity disorder ORPHA:1715
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... ORPHA:125
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Obesity, Male hypogonadism, Pancreatitis OMIM:619471
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Hepatosplenomegaly,... OMIM:301066
Laurence-Moon Syndrome
Obesity OMIM:245800
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Increased circulating... ORPHA:90041
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99226
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity, Generalized limb muscle atrophy, Distal amyotrophy, Dysphagia, Hypothalamic ... ORPHA:2822
Retinitis Pigmentosa 51
Obesity OMIM:613464
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Hypothyroidism, Steatorrhea, Myopathy, Hepatic fibro... ORPHA:14
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Increased circulating ACTH level, Weight l... ORPHA:100075
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Recurrent ha... OMIM:619680
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact... OMIM:301039
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... ORPHA:96149
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... OMIM:229600
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... ORPHA:247598
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature ORPHA:2563
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Distal 16P11.2 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:1001
Pancreatic Agenesis 1
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficienc... OMIM:260370
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Macroglossia, Inappropriate laughter, Bruxism, Recu... OMIM:156200
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Obesity, Hypogonadism OMIM:614231
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance OMIM:619322
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity, Aggressive behavior OMIM:620250
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h... OMIM:613658
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th... ORPHA:261197
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity, Compulsive behaviors OMIM:618443
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Carpenter Syndrome 1
Omphalocele, Precocious puberty, Obesity, Polysplenia, Camptodactyly, Umbilical hernia, Joint con... OMIM:201000
1P36 Deletion Syndrome
Hepatic steatosis, Camptodactyly of finger, Abnormality of the spleen, Abnormal repetitive manner... ORPHA:1606
Megalencephaly
Truncal obesity ORPHA:2477
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Hepatic calcification, Reduced carnitine O-palmitoyltransferase lev... ORPHA:228308
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Cohen Syndrome
Small for gestational age, Facial hypotonia, Decreased response to growth hormone stimulation tes... OMIM:216550
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Hypercholesterolemia ORPHA:86816
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Facial palsy, Abnormal repe... OMIM:615873
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Kleefstra Syndrome 1
Aggressive behavior, Obesity, Macroglossia, Compulsive behaviors, Abnormal repetitive mannerisms OMIM:610253
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Failure to thrive OMIM:616672
Weaver Syndrome
Inguinal hernia, Diastasis recti, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture ... OMIM:277590
White-Sutton Syndrome
Ventral hernia, Hyperactivity, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia... ORPHA:468678
Sotos Syndrome
Tall stature, Aggressive behavior, Increased body weight, Glucose intolerance, Overgrowth, Attent... OMIM:117550
Bloom Syndrome
Small for gestational age, Hepatic steatosis, Type II diabetes mellitus OMIM:210900
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... ORPHA:404448
Liver Disease, Severe Congenital
Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi... OMIM:619991
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypoglycemia, Leiomyosarcoma... ORPHA:116
Angelman Syndrome
Hyperactivity, Macroglossia, Paroxysmal bursts of laughter, Obesity OMIM:105830
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the gallbladder, Ele... ORPHA:171
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Agitation, Dysphagia, Enamel hypoplasia, Decreased body weight, Abnormal rep... OMIM:619229
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Obesity OMIM:616267
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Overweight, Obesity ORPHA:247353
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Splenomegaly, Micronodular cirrhos... OMIM:301072
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Limb joint contracture, F... ORPHA:404454
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Hepatic steatosis, Restrictive behavi... OMIM:619475
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus OMIM:619269
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Diastasis recti, Large for gestational age, Overgrowth, U... ORPHA:254534
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Macroglossia, Hernia, Abnormal repetitive ... ORPHA:261494
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth... OMIM:300868
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... OMIM:619573
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin OMIM:614008
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Macroglossia, Co... ORPHA:369950
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior ORPHA:251028
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Femoral hernia, Obesity, Macroglossia, Failure to thrive ORPHA:96147
Ulnar-Mammary Syndrome
Camptodactyly of finger, Aplasia of the pectoralis major muscle, Obesity, Delayed puberty, Hernia... ORPHA:3138
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... OMIM:203700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis OMIM:619321
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Hepatic steatosis, Limb hyper... OMIM:615846
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Lower limb hypertonia, Obesity, Limb hypertonia OMIM:617296
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdom... OMIM:267000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Limb-girdle muscular dystrophy OMIM:615356
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Flexion contracture, Macroglossia, Macrovesicular hepatic steatosis OMIM:617303
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Desbuquois Dysplasia 1
Obesity OMIM:251450
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Precocious puberty, Low alkaline phosphatase, Obesity ORPHA:369837
Digeorge Syndrome
Hepatic steatosis, Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating p... OMIM:188400
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased re... ORPHA:3455
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Abnormality of the diencephalon, Camptodactyly of finger ORPHA:2570
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Flexion contracture, Generaliz... OMIM:619127
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Tenorio Syndrome
Macroglossia, Hypoglycemia, Hypoinsulinemia OMIM:616260
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... OMIM:616078
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Cohen Syndrome
Failure to thrive in infancy, Obesity, Delayed puberty ORPHA:193
Carney Complex
Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Fol... ORPHA:1359
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody... ORPHA:79318
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Obesity, Truncal obesity, Self-injurious behavior, Attention deficit hyperac... ORPHA:466950
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Flexion contracture, Knee flexion contract... OMIM:619503
Achondroplasia
Obesity ORPHA:15
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder ORPHA:2637
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Truncal obesity, Failure to thrive, Pancreat... OMIM:222700
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... ORPHA:1772
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Polyphagia, Obesity, Congenital hypothyroidism, Cam... OMIM:607872
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Splenomegaly, Cholestatic l... OMIM:270400
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder OMIM:619934
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis OMIM:243910
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypoglycemia, Small for gestational age, Microvesicular hepatic steatosis, Dysph... OMIM:220111
White-Kernohan Syndrome
Hypothyroidism, Obesity, Attention deficit hyperactivity disorder OMIM:619426
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... ORPHA:529962
Ogden Syndrome
Inguinal hernia, Torticollis, Maternal diabetes, Microvesicular hepatic steatosis, Jaundice, Macr... OMIM:300855
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:466943
Chops Syndrome
Splenomegaly, Obesity OMIM:616368
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Fail... OMIM:618278
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Splenome... ORPHA:567
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Obesity, Macroglossia, Hyperglycemia, Hypo... ORPHA:444077
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Primrose Syndrome
Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Skeletal muscle... OMIM:259050
Hellp Syndrome
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Increas... ORPHA:244242
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Abnormal repetitive mannerisms, Obesity OMIM:618653
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Portal hypertension, Flexion co... OMIM:194050
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Witteveen-Kolk Syndrome
Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s... OMIM:613406
Retinitis Pigmentosa 74
Obesity OMIM:616562
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Obesity, Hypohidrosis, Bruxism, Umbilical hernia ORPHA:48652
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Williams Syndrome
Inguinal hernia, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Abnormal dental ena... ORPHA:904
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
Myhre Syndrome
Small for gestational age, Generalized muscle hypertrophy, Obesity, Skeletal muscle hypertrophy, ... OMIM:139210
Rubinstein-Taybi Syndrome 1
Accessory spleen, Hyperactivity, Small for gestational age, Premature thelarche, Impulsivity, Fle... OMIM:180849
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Pseudohypoparathyroidism, Obesity OMIM:617157
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... ORPHA:353277
Norrie Disease
Diabetes mellitus, Cachexia, Abnormality of the diencephalon, Self-injurious behavior, Attention ... ORPHA:649
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Obesity, Macroglossia, Lower limb hypertonia, Hypogonadism, Paroxysmal bursts of l... OMIM:309580
Carpenter Syndrome 2
Diaphragmatic eventration, Obesity, Knee flexion contracture, Camptodactyly, Umbilical hernia OMIM:614976
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Compulsive behaviors, Attention deficit hyperac... ORPHA:199
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia ORPHA:2968
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Self-injurious behavior, Camptodactyly, Failure to thrive, Abnormal repetitive m... OMIM:612474
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Tendon xanthomatosis, Abnormal tendon morphology, Myocardial steatosis, Hyperchol... ORPHA:391665
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Pallister-Killian Syndrome
Omphalocele, Anhidrosis, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, O... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for C1qtnf9

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to C1qtnf9.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
C1q and Tumor Necrosis Factor Related Protein 9 Protects from Diabetic Cardiomyopathy by Alleviating Cardiac Insulin Resistance and Inflammation. Cells (January 2023) C1qtnf9tm1(KOMP)Vlcg PMC9914367
Ablation of Ctrp9, Ligand of AdipoR1, and Lower Number of Cone Photoreceptors in Mouse Retina. Investigative ophthalmology & visual science (May 2022) C1qtnf9tm1(KOMP)Vlcg PMC9123514
C1q/Tumor Necrosis Factor-Related Protein-9 Regulates the Fate of Implanted Mesenchymal Stem Cells and Mobilizes Their Protective Effects Against Ischemic Heart Injury via Multiple Novel Signaling Pathways. Circulation (October 2017) C1qtnf9tm1(KOMP)Vlcg PMC5705403
C1q-TNF-Related Protein-9 Promotes Cardiac Hypertrophy and Failure. Circulation research (November 2016) C1qtnf9tm1(KOMP)Vlcg 27821723
C1q/Tumor Necrosis Factor-Related Protein 9 Protects against Acute Myocardial Injury through an Adiponectin Receptor I-AMPK-Dependent Mechanism. Molecular and cellular biology (April 2015) C1qtnf9tm1(KOMP)Vlcg PMC4438248
Targeted deletion of C1q/TNF-related protein 9 increases food intake, decreases insulin sensitivity, and promotes hepatic steatosis in mice. American journal of physiology. Endocrinology and metabolism (January 2014) C1qtnf9tm1(KOMP)Vlcg PMC3962615

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
C1qtnf9tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
C1qtnf9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
C1qtnf9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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