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Gene: Plekhn1 MGI:2387630

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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:
pleckstrin homology domain containing, family N member 1
Synonyms:
N/A

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 Plekhn1 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 Plekhn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Obesity And Hypopigmentation
Obesity, Hyperinsulinemia, Hepatic steatosis, Overgrowth, Polyphagia OMIM:620195
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia ORPHA:329249
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Obesity, H... ORPHA:71526
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia, Hyperinsulinemia OMIM:618406
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Hyperinsulinemia ORPHA:369873
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress... OMIM:614963
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Polyphagia, Obesity, Hyperinsulinemia OMIM:617885
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Focal ... ORPHA:276575
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hyperi... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Excessive insu... ORPHA:324575
Graves Disease
Abnormal abdomen morphology, Graves disease, Goiter, Increased circulating free T3, Polyphagia, W... OMIM:275000
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Excessive insulin response to gl... ORPHA:276556
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity, Increased... ORPHA:293964
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficienc... OMIM:609734
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe... ORPHA:254516
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity ORPHA:140941
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... OMIM:613670
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Hypotonia-Cystinuria Syndrome
Polyphagia, Failure to thrive ORPHA:163690
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Diabetes mellitus OMIM:222100
Intellectual Developmental Disorder, Autosomal Dominant 72
Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder OMIM:620439
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell... OMIM:601820
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Aggressive behavior, Obesity, Hyperactivity OMIM:620270
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoinsulinemia, Large for gestational age, Obesity, Truncal obesity OMIM:240900
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Morm Syndrome
Aggressive behavior, Hyperactivity, Truncal obesity ORPHA:75858
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Schaaf-Yang Syndrome
Failure to thrive in infancy, Hypogonadism, Obesity, Polyphagia, Skin-picking, Camptodactyly, Fle... OMIM:615547
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ... OMIM:300942
Joubert Syndrome 10
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight OMIM:300804
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus OMIM:608320
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Hyperins... OMIM:608594
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity ORPHA:300305
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Polydipsia, Failure to thrive, Graves di... ORPHA:525731
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Tall stature, Hyperins... OMIM:269700
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Luscan-Lumish Syndrome
Overgrowth, Obesity, Polyphagia, Aggressive behavior OMIM:616831
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... OMIM:274300
Cortisone Reductase Deficiency 2
Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature... OMIM:614662
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Attention deficit hyperactivity disorder, Obesity OMIM:618725
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98793
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Obesity ORPHA:88643
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight, Bulimia OMIM:614651
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:98754
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... ORPHA:177901
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight, Motor stereotypy OMIM:620065
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Failure to thrive, Hypergonado... OMIM:606407
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Abnormal temper tantrums, Precocious puberty, Small pituitary gland, Centra... ORPHA:398079
Mehmo Syndrome
Obesity, Diabetes mellitus, Agitation ORPHA:85282
Mehmo Syndrome
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Aggressive beh... OMIM:300148
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Morbid Obesity And Spermatogenic Failure
Obesity, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Ascites, Increased body weight, Hepatome... ORPHA:890
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Enlarged kidney ORPHA:251004
Wagro Syndrome
Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation OMIM:612469
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Failure to thrive, Truncal obesity ORPHA:261483
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Weigh... ORPHA:95427
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperinsulinemic hypo... ORPHA:276608
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... OMIM:619326
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... OMIM:300888
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Abnormal temper tantrums, Small pituitary gland, Central hypothyroidism, Fail... ORPHA:398069
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Delayed menarche, Obesity, Inappropriate ... ORPHA:72
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Nephronophthisis 15
Obesity, Elevated circulating hepatic transaminase concentration OMIM:614845
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity OMIM:301013
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Obesity, Aggressive behavior, Hyperactivity, Anorexia ORPHA:3077
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, H... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Decreased serum lept... OMIM:615238
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Impulsivity OMIM:617991
Narcolepsy Type 1
Precocious puberty, Obesity, Restless legs, Attention deficit hyperactivity disorder, Restlessness ORPHA:2073
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity, Oral-pharyngeal dysphagia ORPHA:480907
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... ORPHA:54595
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Aggressive behavior, Large for gestational age, Agitation OMIM:616116
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Increased adipose tissue around the neck, Insulin-resistant diabetes... ORPHA:435660
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Hypogonadotropic hypogonadism, Decreased ... OMIM:600955
Prader-Willi Syndrome
Self-injurious behavior, Precocious puberty, Class III obesity, Failure to thrive in infancy, Dec... OMIM:176270
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism ORPHA:3085
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Diabetes mellitus, Hepatic steatosis, Abdominal obesity OMIM:615980
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Intellectual Developmental Disorder With Autism And Macrocephaly
Tall stature, Pica, Overweight, Recurrent hand flapping OMIM:615032
Intellectual Developmental Disorder, Autosomal Recessive 13
Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity OMIM:613192
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,... OMIM:600430
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis ORPHA:2377
Clark-Baraitser Syndrome
Aggressive behavior, Obesity, Hyperactivity OMIM:617752
Pseudohypoparathyroidism, Type Ib
Obesity, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:603233
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... OMIM:614450
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Mody
Abnormal circulating insulin concentration, Pancreatic hypoplasia, Insulin-resistant diabetes mel... ORPHA:552
Trisomy 5P
Obesity ORPHA:1742
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Rafiq Syndrome
Aggressive behavior, Obesity, Flexion contracture, Truncal obesity OMIM:614202
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity, Hyperactivity ORPHA:397973
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringi... ORPHA:163681
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased serum testosterone concentration, Abdominal obesity, Increased circulatin... OMIM:300869
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Flexion contr... OMIM:616222
Bardet-Biedl Syndrome 21
Obesity, Overweight, Elevated circulating hepatic transaminase concentration OMIM:617406
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Truncal obe... OMIM:618160
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Delayed puberty, Anterior hypopituitarism, Abdominal obesity ORPHA:631
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Hepatic steatosis OMIM:615996
Summitt Syndrome
Tall stature, Obesity, Camptodactyly of finger ORPHA:3210
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Angelman Syndrome Due To A Point Mutation
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust... ORPHA:411511
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Obesity, Abnormality of the thyroid gland, Type II diabetes mellitus, Eunuchoid hab... ORPHA:2234
48,Xxyy Syndrome
Abnormal dental enamel morphology, Tall stature, Obesity, Type II diabetes mellitus, Inguinal her... ORPHA:10
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... OMIM:156200
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Absence of pubertal development, Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Large for gestational age, Hyperinsuline... ORPHA:263455
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Obesity, Diabetes mellitus, Hyperactivity OMIM:614613
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Senior-Loken Syndrome 9
Cholestasis, Hepatic fibrosis, Obesity, Hypogonadism OMIM:616629
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Self-mutilation, Hyperactivity, Camp... ORPHA:412035
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly OMIM:615630
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Tall stature, Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy OMIM:618430
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia, Biliary tract abnormality ORPHA:3191
Adnp Syndrome
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Polyphagi... ORPHA:404448
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Overgrowth, Polyphagia, Camptod... OMIM:277590
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob... OMIM:618363
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Premature adrenarche, Elevated circulating hepatic transaminase concentr... ORPHA:293987
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Obesity OMIM:300238
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Aggressive be... ORPHA:96121
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Bruxism, Obesity, Wrist flexion contracture, Flexion contracture, Restlessness OMIM:300055
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Microtriplication 11Q24.1
Bruxism, Obesity ORPHA:289522
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Tall stature, Obesity, Hyperactivity OMIM:618089
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Blue Diaper Syndrome
Increased body weight, Decreased circulating T4 concentration, Elevated circulating hepatic trans... ORPHA:94086
Baralle-Macken Syndrome
Obesity OMIM:619255
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Polyphagia, Restlessness, Aggressive behavior, Self-mutilation ORPHA:251028
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Obesity OMIM:601794
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Bruxism, Obesity, Polyp... OMIM:615873
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Aggressive behavior OMIM:620191
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Attention deficit hyperactivity disorder, Impulsivity ORPHA:589905
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy... OMIM:615830
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Attention deficit hyperactivity disorder, Abdominal obesity, Camptodactyly, ... OMIM:301039
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust... ORPHA:98794
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Aggressive behavior, Obesity OMIM:619056
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Macrocephaly/Autism Syndrome
Obesity, Large for gestational age, Splenomegaly, Overgrowth, Hepatomegaly OMIM:605309
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin l... OMIM:615300
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Small for ges... ORPHA:96184
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational... ORPHA:79644
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Aggressive behavior, Delayed puberty, Hyperactivity, Abdominal obesity OMIM:300354
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hypothyroidism, Abnormality of the endocrine system, D... ORPHA:77296
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, Diabe... OMIM:270450
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Laurence-Moon Syndrome
Obesity OMIM:245800
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Dysphagia, Hyperactivity, Decreased body weight ORPHA:589821
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Precocious puberty, Obesity, Hepatic steatosis, Hypothyroidism, Hyperact... ORPHA:254346
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hypogonadism, Flexion contracture of digit, Self-mutilation, Reduced subcutaneous adipose tissue,... ORPHA:3041
Wagr Syndrome
Obesity ORPHA:893
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Umbilical hernia, Obesity, Aggressive behavior, Proportionate tall stature ORPHA:404443
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity ORPHA:261222
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Obesity, Hypothala... ORPHA:2235
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hypergonadotropic hypogonadism OMIM:619737
Smith-Magenis Syndrome
Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Increased body... OMIM:182290
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Truncal obesity, Umbil... ORPHA:284180
Retinitis Pigmentosa 51
Obesity OMIM:613464
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Myofibrillar Myopathy 11
Overweight, Dysphagia OMIM:619178
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity OMIM:612291
Clark-Baraitser syndrome
Tall stature, Obesity OMIM:300602
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Radio-Tartaglia Syndrome
Precocious puberty, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysph... OMIM:619312
Urban-Rogers-Meyer Syndrome
Hypogonadism, Obesity, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Hypogonadism, Attention deficit hyperactivity disorder, Hyperactivity, Truncal... ORPHA:73272
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Maternal diabetes, Anterior pituitary hypoplasia, Diabetes insipidus, Abnorm... ORPHA:3157
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Large for gestational age, Inguinal hernia, Overgrowth, Enlarged kidney OMIM:618272
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Abd... OMIM:219090
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
1P36 Deletion Syndrome
Self-injurious behavior, Annular pancreas, Failure to thrive, Camptodactyly of finger, Hypogonadi... ORPHA:1606
Osteogenesis Imperfecta, Type Xxiii
Truncal obesity OMIM:620639
Carpenter Syndrome
Obesity, Polysplenia, Umbilical hernia ORPHA:65759
15Q24 Microdeletion Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Congenital dia... ORPHA:94065
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity ORPHA:85325
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity, Polydipsia OMIM:615994
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... OMIM:103580
Smith-Magenis Syndrome
Self-injurious behavior, Precocious puberty, Failure to thrive in infancy, Obesity, Attention def... ORPHA:819
Congenital Myopathy 9A
Obesity OMIM:618822
Marbach-Schaaf Neurodevelopmental Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Recurrent hand flapping OMIM:619680
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism ORPHA:464288
Chromosome 16P13.3 Deletion Syndrome, Proximal
Obesity, Failure to thrive, Polysplenia OMIM:610543
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy ORPHA:93952
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Left ventricular hypertrophy, Achilles tendon contracture OMIM:615418
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity, Aggressive behavior OMIM:620250
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... ORPHA:226313
Megalencephaly
Truncal obesity ORPHA:2477
Fliedner-Zweier Syndrome
Self-injurious behavior, Aggressive behavior, Obesity OMIM:620511
Dysbetalipoproteinemia
Obesity, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis, Diabetes mellitus ORPHA:412
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased adiponectin level, Increased adipose tissue around the neck, Increased facial adipose t... ORPHA:280365
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Obesity, Inguinal hernia, Aggressive behavior, Cachexia, H... ORPHA:85293
48,Xxxy Syndrome
Hypogonadism, Tall stature, Obesity, Abnormal dental enamel morphology, Type II diabetes mellitus... ORPHA:96263
Cornelia De Lange Syndrome 5
Hypogonadism, Truncal obesity OMIM:300882
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity disor... ORPHA:1001
Shox-Related Short Stature
Obesity ORPHA:314795
Laron Syndrome
Abnormality of the endocrine system, Delayed puberty, Truncal obesity ORPHA:633
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98855
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity, Compulsive behaviors OMIM:618443
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:2298
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity diso... ORPHA:261197
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Truncal obesity, Increased body mass index OMIM:300957
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Aggressive behavior, Self-injurious behavior OMIM:300860
Rett Syndrome
Failure to thrive, Increased serum leptin, Bruxism, Cholecystitis, Stereotypical hand wringing, M... ORPHA:778
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98863
White-Sutton Syndrome
Self-injurious behavior, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Overfriendl... OMIM:616364
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Obesity, Decreased cervical spine flexion due to contractures of poste... ORPHA:98853
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Den Hoed-De Boer-Voisin Syndrome
Obesity, Decreased body weight, Stereotypical hand wringing, Amelogenesis imperfecta, Enamel hypo... OMIM:619229
Kleefstra Syndrome 1
Compulsive behaviors, Aggressive behavior, Obesity, Motor stereotypy OMIM:610253
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity, Streak ovary OMIM:194072
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Obesity, Hepatomegaly, Jaundice, Overwei... ORPHA:26793
White-Sutton Syndrome
Self-injurious behavior, Obesity, Congenital diaphragmatic hernia, Inguinal hernia, Aggressive be... ORPHA:468678
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Cholelithiasis, Umbilical hernia, Obesity, Hepatosplenomegaly, Cholecystitis,... OMIM:301066
Angelman Syndrome
Obesity, Paroxysmal bursts of laughter, Hyperactivity OMIM:105830
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age ORPHA:86816
Ring Chromosome Y Syndrome
Obesity, Streak ovary, Male hypogonadism ORPHA:261529
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity, Elevated circulating parathyroid hormone level ORPHA:439822
Alstrom Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Dec... OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Umbilical hernia, Hair-pulling, Polyphagia, Attention... OMIM:620330
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Obesity, Congenital hypothyroidism, Oppositional defiant disorder, Self-... OMIM:607872
Adiposis Dolorosa
Obesity, Hypothyroidism ORPHA:36397
Kleefstra Syndrome
Self-injurious behavior, Obesity, Self-mutilation, Hernia, Aggressive behavior, Motor stereotypy ORPHA:261494
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age ORPHA:254534
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Hypogonadism, Obesity, Biliary tract abnormality, Left ventricular hypertrophy,... OMIM:209900
Carpenter Syndrome 1
Precocious puberty, Joint contracture of the hand, Polysplenia, Umbilical hernia, Obesity, Omphal... OMIM:201000
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Bardet-Biedl Syndrome 12
Abdominal mass, Obesity, Hypogonadism OMIM:615989
Momo Syndrome
Tall stature, Obesity, Large for gestational age, Overgrowth ORPHA:2563
Retinitis Pigmentosa
Hypogonadism, Obesity, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Borjeson-Forssman-Lehmann Syndrome
Hypogonadism, Camptodactyly of toe, Truncal obesity ORPHA:127
Aromatase Deficiency
Tall stature, Obesity, Eunuchoid habitus, Hepatic steatosis, Type II diabetes mellitus, Enlarged ... ORPHA:91
Alström Syndrome
Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me... ORPHA:64
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Silver-Russell Syndrome
Premature adrenarche, Precocious puberty, Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Obesity, Adrenocorticotropic hormone defic... OMIM:615926
Intellectual Developmental Disorder, Autosomal Dominant 29
Self-injurious behavior, Frequent temper tantrums, Obesity, Aggressive behavior, Attention defici... OMIM:616078
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Truncal obesity, Abdominal obesity OMIM:615812
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Large for gestational age, Elevated circulating hepatic transaminase concentration,... OMIM:616026
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Annular pancreas, Pituitary adenoma, Maturity-onset dia... ORPHA:96149
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Self-injurious behavior, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:466950
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight, Dysphagia ORPHA:2822
Peripartum Cardiomyopathy
Obesity, Abnormality of thyroid physiology, Diabetes mellitus, Left ventricular hypertrophy ORPHA:563
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Kleefstra Syndrome Due To 9Q34 Microdeletion
Obesity, Inguinal hernia, Femoral hernia, Failure to thrive ORPHA:96147
Desbuquois Dysplasia 1
Obesity OMIM:251450
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Ob... ORPHA:177907
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Increase... ORPHA:79240
Rabin-Pappas Syndrome
Failure to thrive in infancy, Overgrowth, Obesity OMIM:620155
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Generalized Pustular Psoriasis
Obesity, Overweight, Elevated circulating hepatic transaminase concentration ORPHA:247353
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity, Aggressive behavior, Abnormality of the pineal gland, Tongue thrustin... ORPHA:369950
Monosomy 13Q34
Obesity, Hepatic steatosis ORPHA:96168
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Obesity, Hip contracture OMIM:618493
Cohen Syndrome
Decreased response to growth hormone stimulation test, Childhood-onset truncal obesity, Delayed p... OMIM:216550
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Sotos Syndrome
Tall stature, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder, Aggres... OMIM:117550
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Obesity, Hypogonadotropic hypogonadism, D... ORPHA:478
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Decreased body weight, Jaundice, Tics, Motor stereotypy, Obesity, Attention de... OMIM:619475
Achondroplasia
Obesity ORPHA:15
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Micronodular cirrhosis, Ascites, Splenomegaly, Truncal obesity, Hepatomegaly, Li... OMIM:301072
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Obesity, Umbilical hernia, Inguinal hernia, Reduced circulating growth hormone concentration OMIM:620654
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ... ORPHA:466943
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Pituitary hypothyroidism, Umbilical hernia, Hypopituitarism, Decreas... ORPHA:226307
Beckwith-Wiedemann Syndrome
Visceromegaly, Abnormal pancreas morphology, Umbilical hernia, Exocrine pancreatic insufficiency,... ORPHA:116
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Obesity, Dentinogenesis imperfecta OMIM:619269
Bardet-Biedl Syndrome 20
Obesity, Elevated circulating hepatic transaminase concentration, Pancreatitis, Male hypogonadism OMIM:619471
Cushing Disease
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... ORPHA:96253
Cohen Syndrome
Failure to thrive in infancy, Obesity, Delayed puberty ORPHA:193
Short Stature, Microcephaly, And Endocrine Dysfunction
Hypothyroidism, Diabetes mellitus, Inguinal hernia, Truncal obesity OMIM:616541
Gaisböck Syndrome
Obesity, Cholecystitis, Overweight, Diabetes mellitus, Increased circulating renin level ORPHA:90041
Retinitis Pigmentosa 74
Obesity OMIM:616562
Ulnar-Mammary Syndrome
Hernia of the abdominal wall, Obesity, Delayed puberty, Camptodactyly of finger ORPHA:3138
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Attention deficit hyperactivity disorder, Truncal obesity ORPHA:2637
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Chops Syndrome
Obesity, Splenomegaly OMIM:616368
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Motor stereotypy, Inguinal hernia OMIM:618653
Thyrotoxic Periodic Paralysis
Graves disease, Obesity, Weight loss, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Thyrot... ORPHA:79102
Down Syndrome
Umbilical hernia, Obesity, Type II diabetes mellitus, Delayed puberty, Hyperthyroidism ORPHA:870
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99228
Monosomy X
Cholestatic liver disease, Hepatic fibrosis, Atypical scarring of skin, Elevated circulating hepa... ORPHA:99226
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated circulating hepatic transaminase concentration, Hypogonadism, Obesity, Jaundice, Diabete... OMIM:614231
White-Kernohan Syndrome
Attention deficit hyperactivity disorder, Obesity, Hypothyroidism OMIM:619426
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Type II diabetes mellitus, Truncal obesity, Enamel hypoplasia OMIM:210720
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Inguinal hernia OMIM:614947
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Aggressive behavior, Pineal cyst, Truncal obesity ORPHA:529962
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Umbilical hernia, Obesity, Splenomegaly, Hepatic steatosi... OMIM:188400
Monosomy 22Q13.3
Umbilical hernia, Bruxism, Obesity, Hair-pulling, Hyperactivity ORPHA:48652
Atypical Werner Syndrome
Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem... ORPHA:79474
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin OMIM:614008
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Obesity, Precocious puberty ORPHA:369837
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Keloids, Failure to thrive, Abnormal fear-induced behavior, Obesity, Agg... ORPHA:353281
Lysinuric Protein Intolerance
Failure to thrive, Splenomegaly, Pancreatitis, Truncal obesity, Hepatomegaly OMIM:222700
22Q11.2 Deletion Syndrome
Cholelithiasis, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, ... ORPHA:567
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Bloom Syndrome
Adipose tissue loss, Diabetes mellitus, Small for gestational age, Abdominal obesity ORPHA:125
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Increased circulating insulin-like growth fact... ORPHA:1359
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio... ORPHA:1435
Kabuki Syndrome
Precocious puberty, Obesity, Congenital diaphragmatic hernia, Failure to thrive ORPHA:2322
45,X/46,Xy Mixed Gonadal Dysgenesis
Decreased serum testosterone concentration, Obesity, Streak ovary, Hypothyroidism, Delayed pubert... ORPHA:1772
Bardet-Biedl Syndrome
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypogonadism, Obesity,... ORPHA:110
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Keloids, Failure to thrive, Abnormal fear-induced behavior, Obesity, Cor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Keloids, Failure to thrive, Abnormal fear-induced behavior, Obesity, Cor... ORPHA:353277
Rubinstein-Taybi Syndrome 1
Accessory spleen, Keloids, Failure to thrive, Self-mutilation, Premature thelarche, Enamel hypopl... OMIM:180849
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Obesity, Type II diabetes mellitus, Congen... OMIM:613406
Myhre Syndrome
Camptodactyly, Obesity, Small for gestational age OMIM:139210
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Hypoplasia of the ovary, Hepatic steatosis, Abdominal obesity OMIM:619321
Williams Syndrome
Precocious puberty, Cholelithiasis, Umbilical hernia, Failure to thrive in infancy, Abnormal dent... ORPHA:904
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Obesity, Hypothyroidism ORPHA:444077
6Q Terminal Deletion Syndrome
Obesity, Failure to thrive ORPHA:75857
Williams-Beuren Syndrome
Umbilical hernia, Failure to thrive in infancy, Obesity, Early onset of sexual maturation, Portal... OMIM:194050
Primrose Syndrome
Self-injurious behavior, Hip contracture, Knee flexion contracture, Aggressive behavior, Attentio... OMIM:259050
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Hellp Syndrome
Increased body weight, Elevated circulating hepatic transaminase concentration ORPHA:244242
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Failure to thrive, Pseudohypoparathyroidism OMIM:617157
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Elbow flexion contracture, Obesity, Inguinal hernia, Delayed puberty... OMIM:181450
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Failure to thrive, Truncal obesity, Camptodactyly, Motor stereotypy OMIM:612474
Cornelia De Lange Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Del... ORPHA:199
Carpenter Syndrome 2
Camptodactyly, Obesity, Knee flexion contracture, Umbilical hernia OMIM:614976
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypogonadism, Obesity, Paroxysmal bursts of laughter, Hyperactivity OMIM:309580
Hutchinson-Gilford Progeria Syndrome
Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weight loss, Pubertal de... ORPHA:740
Pallister-Killian Syndrome
Camptodactyly of 2nd-5th fingers, Umbilical hernia, Obesity, Congenital diaphragmatic hernia, Ing... 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 Plekhn1

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 Plekhn1.

No publications found that use IMPC mice or data for Plekhn1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Plekhn1tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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