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Gene: Rsc1a1 MGI:3526447

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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:
regulatory solute carrier protein, family 1, member 1
Synonyms:
OTTMUSG00000010365,  RS1,  mRS1

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 Rsc1a1 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 Rsc1a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age ORPHA:356996
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... OMIM:615703
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
Adiposis Dolorosa
Constipation, Obesity, Painful subcutaneous lipomas OMIM:103200
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Overgrowth, Obesity OMIM:620195
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia OMIM:617885
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
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
Narcolepsy Type 1
Obesity ORPHA:2073
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia, Failure to thrive OMIM:615863
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age OMIM:240900
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy exp... ORPHA:369873
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Obesity ORPHA:99976
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,... OMIM:620211
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity, Congenital hypothyroidism ORPHA:88643
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Gene... OMIM:612526
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Summitt Syndrome
Obesity OMIM:272350
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo... OMIM:182290
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Intellectual Developmental Disorder, Autosomal Dominant 39
Self-mutilation, Polyphagia, Obesity, Aggressive behavior OMIM:616521
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism ORPHA:261483
Pseudohypoparathyroidism, Type Ib
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Lipodystrophy, Adipose ti... ORPHA:528
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased circulating free fatty acid level, Abnormal circulating insulin concen... ORPHA:293964
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... OMIM:300148
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Mehmo Syndrome
Diabetes mellitus, Agitation, Obesity ORPHA:85282
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Laron Syndrome
Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Delayed puberty ORPHA:633
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
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
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Diarrhea, Obesity, Hypoinsul... OMIM:600955
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... ORPHA:435660
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:151660
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity ORPHA:411515
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Decreased circulating free fatty acid level, Agitati... ORPHA:276575
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-onset diabetes ... ORPHA:324575
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Pica, Constipation, Recurrent hand flapping, Tall stature OMIM:615032
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Gastroesop... OMIM:615547
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity, Oral-pharyngeal dysphagia ORPHA:480907
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Nephronophthisis 15
Obesity OMIM:614845
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity ORPHA:3077
Trisomy 5P
Obesity ORPHA:1742
Galactokinase Deficiency
Small for gestational age, Hypergonadotropic hypogonadism, Hyperinsulinemia, Increased level of g... ORPHA:79237
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior OMIM:617991
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Vomiting, Constipation, Camptodactyly, F... ORPHA:412035
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell hyperplasia, Hyperinsul... ORPHA:276608
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellit... ORPHA:276580
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Diarrhea, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Agitation, Aggressive behavior, Large for gestational age OMIM:616116
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, ... ORPHA:819
Blue Diaper Syndrome
Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Increase... ORPHA:94086
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Hyperinsulinem... ORPHA:276556
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Thyroid hypoplasia, Goiter, Pitui... ORPHA:90674
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa... ORPHA:412
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin... OMIM:600430
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... ORPHA:79445
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Gast... ORPHA:10
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism... OMIM:612462
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior OMIM:614202
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Idiopathic Intracranial Hypertension
Vomiting, Obesity, Nausea ORPHA:238624
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, Obesity ORPHA:3191
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism OMIM:612463
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Microtriplication 11Q24.1
Hyperlipidemia, Obesity, Bruxism ORPHA:289522
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity ORPHA:2377
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Constipation, Compulsive behaviors, Abnormal repetit... OMIM:618430
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Chronic constipation, Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy, Intermittent diarrhea ORPHA:263501
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity ORPHA:69663
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Diarrhea, I... OMIM:278000
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Increased body weight, Gastroesophageal reflux, Constipation, Attention deficit hype... ORPHA:589905
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
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Encopresis, Diarrhea, Obesity, Gastroesophageal reflux, Constipation, Dysphagia, D... ORPHA:589821
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
Baralle-Macken Syndrome
Obesity OMIM:619255
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
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Abnormal circulating fatty-acid concentration, Diarrhea, Hyperinsuline... ORPHA:263455
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Pseudohypoparathyroidism, Type Ia
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:103580
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Increased bod... ORPHA:264580
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist flexion contracture OMIM:300055
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Chronic constipation, Obesity, Aggressive behavior OMIM:619056
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Decr... OMIM:608594
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormality of body weight, Abnormal circulating fatty-... ORPHA:2298
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618089
Laurence-Moon Syndrome
Obesity OMIM:245800
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Constipation, Inappropriate l... ORPHA:98794
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... OMIM:248370
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Achilles tendon contracture, Obesity, Elevated circulating creatine kinase conce... OMIM:615418
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diarrhea, Increased bod... ORPHA:79240
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98853
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Elevated hemoglobin A1c... OMIM:269700
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Wagr Syndrome
Obesity ORPHA:893
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Obesity, Absen... ORPHA:398079
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Abnormal temper tantrums, Skin-p... ORPHA:163681
Luscan-Lumish Syndrome
Polyphagia, Overgrowth, Obesity, Aggressive behavior OMIM:616831
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... ORPHA:72
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Obesity, Flexion contracture of toe ORPHA:3409
Retinitis Pigmentosa 51
Obesity OMIM:613464
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Acquired Aneurysmal Subarachnoid Hemorrhage
Addictive alcohol use, Vomiting, Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Nausea ORPHA:90065
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Delayed... ORPHA:251004
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Aggressive behavior OMIM:620191
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Abdominal obesity, Disproportionate tall stature, Attention deficit hyperact... OMIM:301039
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity OMIM:619737
Congenital Myopathy 9A
Obesity OMIM:618822
19P13.12 Microdeletion Syndrome
Hyperactivity, Precocious puberty, Hyperlipidemia, Obesity, Self-injurious behavior, Arthrogrypos... ORPHA:254346
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... ORPHA:280365
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Truncal obesity, Hypogonadism, Attention deficit hypera... ORPHA:73272
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti... ORPHA:99832
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Agitation, Increased serum leptin, Failure to thrive, A... ORPHA:778
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Overweight, Gastroesophageal reflux, Delayed puberty, Mildly elevate... ORPHA:486815
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi... ORPHA:284180
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Constipation, Polydipsia, Abnormality ... ORPHA:3157
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit,... ORPHA:3041
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty OMIM:300354
Tatton-Brown-Rahman Syndrome
Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm ORPHA:404443
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Gastroesophageal reflux, Constipat... OMIM:619312
Adiposis Dolorosa
Diarrhea, Xerostomia, Obesity, Constipation, Hypothyroidism ORPHA:36397
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli... ORPHA:96263
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age OMIM:618272
Megalencephaly
Truncal obesity ORPHA:2477
Carpenter Syndrome
Umbilical hernia, Obesity ORPHA:65759
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism ORPHA:464288
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism, Gastroesophageal reflux OMIM:300882
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Xerostomia, Increased b... ORPHA:398069
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Hyperproteinemia, Increased circula... ORPHA:90041
Myofibrillar Myopathy 11
Overweight, Dysphagia OMIM:619178
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Shox-Related Short Stature
Obesity ORPHA:314795
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Gastroesophageal reflux, Overgrowth, Obesity, Aggressive behavior OMIM:620250
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hype... OMIM:238600
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Gastroesophageal reflux, Attention deficit hyperactivit... ORPHA:261197
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... ORPHA:567548
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619680
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... ORPHA:91355
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity OMIM:615994
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ... ORPHA:85293
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Obesity, Increased circulating ACTH level, Abdominal obesity, Hypokalemia OMIM:219090
White-Sutton Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Self-injurious beha... OMIM:616364
Intellectual Developmental Disorder, X-Linked 12
Truncal obesity, Increased body mass index, Small for gestational age OMIM:300957
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Webb-Dattani Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Adrenocorti... OMIM:615926
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Agitation, Gastroesophageal reflux, Constipation, Dysphagia, Enamel hypoplas... OMIM:619229
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Male hypogonadism, Obesity OMIM:619471
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:1001
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism, Dysphagia OMIM:249310
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79444
Kleefstra Syndrome 1
Aggressive behavior, Obesity, Gastroesophageal reflux, Compulsive behaviors, Abnormal repetitive ... OMIM:610253
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
White-Sutton Syndrome
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... ORPHA:468678
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism, De... OMIM:203800
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Constipation, Obesity OMIM:105830
Prader-Willi Syndrome
Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Flexion contracture, Chronic dia... ORPHA:500055
Kleefstra Syndrome
Bowel incontinence, Aggressive behavior, Obesity, Self-injurious behavior, Gastroesophageal reflu... ORPHA:261494
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Diarrhea, Hyperkalemia, Prim... ORPHA:275761
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Joubert Syndrome 37
Obesity OMIM:619185
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature ORPHA:2563
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity OMIM:615630
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... ORPHA:247353
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Abnormal repetitive mannerisms, Hypothyroidism ORPHA:2479
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Gastroesophageal reflux, Con... ORPHA:813
Prader-Willi Syndrome
Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone... OMIM:176270
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Encopresis, Gastroesophageal reflux, Obesity, Compulsive behaviors OMIM:618443
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypogonadism, Obesity ORPHA:110
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Large for gestational age, Precocious puberty, Self-injurious behavior, Overgrow... ORPHA:261652
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... ORPHA:79443
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Gastroesophageal reflux, Compulsive behaviors, Abnormal repet... ORPHA:534
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Obesity, Type II diabetes mell... ORPHA:91
Wilson Disease
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Failure to thrive ORPHA:905
Down Syndrome
Type II diabetes mellitus, Umbilical hernia, Hypothyroidism, Obesity ORPHA:870
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Constipation, Elbow flexion contracture, Obesity OMIM:618493
Rabin-Pappas Syndrome
Hyponatremia, Overgrowth, Failure to thrive in infancy, Obesity OMIM:620155
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Carpenter Syndrome 1
Omphalocele, Precocious puberty, Obesity, Camptodactyly, Umbilical hernia, Joint contracture of t... OMIM:201000
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Obesity, Truncal obesity, Self-injurious behavior, Gastroesophageal reflux, ... ORPHA:466950
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Diarrhea, Thyroiditis, Enterocolitis, Ulcerative colitis, X... ORPHA:79259
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Joubert Syndrome 8
Obesity OMIM:612291
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Umbilical hernia, Gastroesophageal reflux, Hiatus hernia OMIM:619769
Monosomy 13Q34
Hematochezia, Hypercalcemia, Obesity ORPHA:96168
Desbuquois Dysplasia 1
Obesity OMIM:251450
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity, Dysphagia ORPHA:2822
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor ORPHA:363618
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... OMIM:616078
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Chronic constip... ORPHA:404448
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Constipation, Co... ORPHA:369950
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Truncal obesity, Abnormal circulating lipid concentration, Hy... OMIM:616541
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Immunodeficiency 47
Decreased circulating copper concentration, Chronic diarrhea, Hypercholesterolemia, Failure to th... OMIM:300972
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98907
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Atypical Werner Syndrome
Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, ... ORPHA:79474
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... OMIM:216550
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Aggressive behavior, Precocious puberty, Obesity, Chronic constipation, Umbilical hernia, Abnorma... OMIM:301066
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Sotos Syndrome
Aggressive behavior, Increased body weight, Overgrowth, Gastroesophageal reflux, Attention defici... OMIM:117550
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D... ORPHA:478
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Gastroesophageal reflux, Constipation, Att... ORPHA:466943
Achondroplasia
Obesity ORPHA:15
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Truncal obesity, Abdominal obesity, H... OMIM:209900
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus OMIM:619269
Retinitis Pigmentosa 74
Obesity OMIM:616562
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin OMIM:614008
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Diabetes mellitus, Hypouricemia, Large for gestational age OMIM:616026
Ulnar-Mammary Syndrome
Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty ORPHA:3138
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... ORPHA:96149
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity, Gastroesoph... ORPHA:369837
Chops Syndrome
Constipation, Gastroesophageal reflux, Obesity, Gastroparesis OMIM:616368
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Impulsivity, Aggressive behavior, Overweight, Repetitive com... OMIM:619475
Diamond-Blackfan Anemia 21
Chronic diarrhea, Obesity OMIM:620072
Cohen Syndrome
Failure to thrive in infancy, Obesity, Delayed puberty ORPHA:193
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Diarrhea, Hyperammonemia, Truncal ob... OMIM:222700
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Neutral Lipid Storage Myopathy
Diabetes mellitus, Hypertriglyceridemia, Obesity, Pineal cyst, Abnormal circulating creatine kina... ORPHA:98908
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Abnormal repetitive mannerisms, Obesity OMIM:618653
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder ORPHA:2637
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Small for gestational age, Limb joint contracture, Decreased resting energy expenditure, Achilles... ORPHA:404454
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Alagille Syndrome 1
Hypertriglyceridemia, Papillary thyroid carcinoma, Hypercholesterolemia, Failure to thrive, Exocr... OMIM:118450
White-Kernohan Syndrome
Gastroesophageal reflux, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder OMIM:619426
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Xylt1-Cdg
Truncal obesity ORPHA:370930
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Obesity, Gastroesophageal reflux, Bruxism, Umbilical hernia ORPHA:48652
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Bloom Syndrome
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Abdominal obesity, Gastroesoph... ORPHA:125
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Gastrointestinal hemorrhage, Inguinal hernia, Hyperthyroidism, Abnormal denta... ORPHA:567
Beckwith-Wiedemann Syndrome
Omphalocele, Adrenocortical cytomegaly, Inguinal hernia, Elevated circulating alpha-fetoprotein c... ORPHA:116
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
1P36 Deletion Syndrome
Camptodactyly of finger, Hypothyroidism, Polyphagia, Obesity, Self-injurious behavior, Hypogonadi... ORPHA:1606
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... ORPHA:529962
Digeorge Syndrome
Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ... OMIM:188400
Tako-Tsubo Cardiomyopathy
Vomiting, Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentra... ORPHA:66529
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Increased HDL cholesterol concentration, Obesity, Elevated c... ORPHA:70591
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Hypogonadism, Obesity OMIM:614231
Carney Complex
Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma, Elevated circ... ORPHA:1359
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger OMIM:619562
Hellp Syndrome
Vomiting, Increased body weight, Nausea ORPHA:244242
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity, Flexion contracture, Limb joint contracture OMIM:301072
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
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, Hypothyroidism, Obesity, Congenital hypothyroidism,... OMIM:607872
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
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Abdominal obesity, Hypoplasia of the ovary, Flexion contracture OMIM:619321
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulat... OMIM:619534
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Obesity, Gastroesophageal reflux, Constipa... ORPHA:444077
Witteveen-Kolk Syndrome
Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s... OMIM:613406
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Flexion contract... OMIM:194050
Rubinstein-Taybi Syndrome 1
Hyperactivity, Small for gestational age, Impulsivity, Premature thelarche, Flexion contracture, ... OMIM:180849
Myhre Syndrome
Small for gestational age, Obesity, Camptodactyly OMIM:139210
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Gastroesophageal reflux, Obesity, Pseudohypoparathyroidism OMIM:617157
Primrose Syndrome
Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circul... OMIM:259050
Williams Syndrome
Inguinal hernia, Failure to thrive in infancy, Hypercalcemia, Elevated circulating creatine kinas... ORPHA:904
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... ORPHA:740
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Obesity, Hypogonadism, Vomiting, Gastroesophageal reflux, Constipation, Paroxysmal... OMIM:309580
Carpenter Syndrome 2
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture OMIM:614976
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Gastroesophageal reflux, Compulsive behaviors, ... ORPHA:199
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Self-injurious behavior, Camptodactyly, Failure to thrive, Abnormal repetitive m... OMIM:612474
Alström Syndrome
Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth hormone stimula... ORPHA:64
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp... 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 Rsc1a1

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 Rsc1a1.

No publications found that use IMPC mice or data for Rsc1a1.

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