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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
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... ORPHA:71529
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Hepatic steatosis OMIM:620195
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
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity, Tall stature OMIM:618406
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
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
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin OMIM:617885
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellitus, H... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Agitation, Type I d... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-o... ORPHA:324575
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder ORPHA:369873
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Excessive insu... ORPHA:276556
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
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
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Obesity, Aggressive behavior OMIM:620270
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age OMIM:240900
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for ges... OMIM:601820
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Schaaf-Yang Syndrome
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... OMIM:615547
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Narcolepsy Type 1
Obesity ORPHA:2073
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Elevated hepatic transamina... OMIM:608594
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
11P15.4 Microduplication Syndrome
Obesity, Aggressive behavior ORPHA:300305
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... ORPHA:525731
X-Linked Acrogigantism
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... ORPHA:300373
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Elevated hepatic transamina... OMIM:269700
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Morm Syndrome
Truncal obesity, Hyperactivity, Aggressive behavior ORPHA:75858
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435651
Luscan-Lumish Syndrome
Overgrowth, Polyphagia, Obesity, Aggressive behavior OMIM:616831
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Summitt Syndrome
Obesity OMIM:272350
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
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
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
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
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
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Obesity, Cardiomegaly ORPHA:88643
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resista... ORPHA:79085
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoac... OMIM:615238
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Bulimia, Obesity OMIM:614651
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Decreased response to growth hormone stimulation test, Hypergonado... OMIM:606407
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Hepatic steatosis, Obesity OMIM:615703
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Decreased adiponectin ... ORPHA:435660
Mehmo Syndrome
Diabetes mellitus, Agitation, Obesity ORPHA:85282
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... OMIM:300148
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites ORPHA:890
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Delayed puberty, Polyphagia, Enlarged kidney ORPHA:251004
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism ORPHA:261483
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Secondary Short Bowel Syndrome
Cholestasis, Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Poly... ORPHA:95427
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, Increased body weight, ... ORPHA:398069
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Abnormal circulating insulin concentration, ... ORPHA:293964
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... ORPHA:72
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors ORPHA:444002
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell hyperplasia, Hyperinsul... ORPHA:276608
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity ORPHA:3077
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Chung-Jansen Syndrome
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior OMIM:617991
Intellectual Developmental Disorder, Autosomal Recessive 46
Large for gestational age, Self-injurious behavior, Agitation, Aggressive behavior OMIM:616116
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
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
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Intellectual Developmental Disorder With Autism And Macrocephaly
Overweight, Recurrent hand flapping, Pica, Tall stature OMIM:615032
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... ORPHA:905
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Obesity, Stereotypical hand wringing OMIM:619854
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Abdominal obesity, Diabetes mellitus, Lipodystrophy OMIM:615980
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Prader-Willi Syndrome
Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to growth hormone... OMIM:176270
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism OMIM:613192
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin... OMIM:600430
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity ORPHA:2377
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Clark-Baraitser Syndrome
Hyperactivity, Obesity, Aggressive behavior OMIM:617752
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Trisomy 5P
Obesity ORPHA:1742
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abno... ORPHA:163681
Rafiq Syndrome
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior OMIM:614202
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Overweight, Precocious puberty, ... OMIM:616222
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Overweight, Obesity OMIM:617406
Bardet-Biedl Syndrome 19
Hypogonadism, Hepatic steatosis, Obesity OMIM:615996
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Hypogonadotropic hypogonadism, Obesity OMIM:600955
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... ORPHA:411511
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
48,Xxyy Syndrome
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type... ORPHA:10
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Senior-Loken Syndrome 9
Hypogonadism, Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
13Q12.3 Microdeletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... ORPHA:412035
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Biliary tract abnormality, Obesity ORPHA:3191
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... ORPHA:263455
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... OMIM:618430
Adnp Syndrome
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... ORPHA:404448
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism OMIM:612463
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... ORPHA:96121
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618089
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Weaver Syndrome
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... OMIM:277590
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist flexion contracture OMIM:300055
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia... ORPHA:293987
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Blue Diaper Syndrome
Elevated hepatic transaminase, Decreased circulating T4 concentration, Elevated circulating thyro... ORPHA:94086
Microtriplication 11Q24.1
Obesity, Bruxism ORPHA:289522
Baralle-Macken Syndrome
Obesity OMIM:619255
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior ORPHA:251028
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Rett Syndrome
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... ORPHA:778
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Camptodactyly of finger ORPHA:2928
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Pica, Obesity, Aggressive behavior OMIM:620191
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... ORPHA:98794
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... OMIM:615873
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity ORPHA:589905
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism... OMIM:612462
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity, Aggressive behavior OMIM:619056
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... ORPHA:2298
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... OMIM:615300
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
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
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the thyroid gland, Self hugging, Increased body weight, Head-bangin... OMIM:182290
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth OMIM:605309
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty OMIM:300354
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact... OMIM:301039
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Laurence-Moon Syndrome
Obesity OMIM:245800
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Decreased body weight, Obesity, Dysphagia ORPHA:589821
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit,... ORPHA:3041
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Wagr Syndrome
Obesity ORPHA:893
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Obesity ORPHA:464282
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperactivity, Precocious puberty, Obesity, Self-injurious behavior, Arthrogry... ORPHA:254346
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Distal 16P11.2 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity OMIM:619737
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Tatton-Brown-Rahman Syndrome
Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm ORPHA:404443
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi... ORPHA:284180
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha... ORPHA:3157
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Obesity, Flexion contracture of toe ORPHA:3409
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Truncal obesity, Hypogonadism, Attention deficit hypera... ORPHA:73272
Radio-Tartaglia Syndrome
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di... OMIM:619312
Retinitis Pigmentosa 51
Obesity OMIM:613464
Joubert Syndrome 37
Hepatomegaly, Obesity OMIM:619185
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Overgrowth, Umbilical hernia, Enlarged kidney OMIM:618272
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Pseudohypoparathyroidism, Type Ia
Obesity, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Carpenter Syndrome
Umbilical hernia, Obesity, Polysplenia ORPHA:65759
Bardet-Biedl Syndrome 17
Polydipsia, Hypogonadism, Obesity OMIM:615994
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
1P36 Deletion Syndrome
Hepatic steatosis, Camptodactyly of finger, Abnormality of the spleen, Hypothyroidism, Polyphagia... ORPHA:1606
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Smith-Magenis Syndrome
Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, Self-injurious behavio... ORPHA:819
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity, Polysplenia OMIM:610543
Marbach-Schaaf Neurodevelopmental Syndrome
Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619680
Congenital Myopathy 9A
Obesity OMIM:618822
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism ORPHA:464288
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity ORPHA:93952
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation ORPHA:293948
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Achilles tendon contracture, Obesity 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
Megalencephaly
Truncal obesity ORPHA:2477
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... OMIM:203800
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Diabetes mellitus, Obesity, Hypothyroidism ORPHA:412
Bardet-Biedl Syndrome
Hypogonadism, Hypoplasia of the ovary, Hepatic fibrosis, Obesity ORPHA:110
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli... ORPHA:96263
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ... ORPHA:85293
Laron Syndrome
Abnormality of the endocrine system, Truncal obesity, Delayed puberty ORPHA:633
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98855
Shox-Related Short Stature
Obesity ORPHA:314795
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:1001
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity, Compulsive behaviors OMIM:618443
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th... ORPHA:261197
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
White-Sutton Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Self-injurious beha... OMIM:616364
X-Linked Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... ORPHA:98853
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Increased body weight, Aggressive behavior OMIM:300860
Den Hoed-De Boer-Voisin Syndrome
Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep... OMIM:619229
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Aggressive behavior, Precocious puberty, Obesity, Hepatosplenomegaly, Umbilical her... OMIM:301066
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obe... ORPHA:26793
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Obesity, Pituitary adenoma, Increased circulating ACTH level OMIM:219090
Angelman Syndrome
Hyperactivity, Paroxysmal bursts of laughter, Obesity OMIM:105830
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature ORPHA:2563
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Obesity ORPHA:86816
White-Sutton Syndrome
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... ORPHA:468678
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Cholestasis, I... ORPHA:264580
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Hepatic steatosis ORPHA:98907
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism,... OMIM:607872
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Biliary tract abnormality, Obesity, Truncal ob... OMIM:209900
Kleefstra Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Abnormal repetitive mannerisms, Se... ORPHA:261494
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Carpenter Syndrome 1
Omphalocele, Precocious puberty, Obesity, Polysplenia, Camptodactyly, Umbilical hernia, Joint con... OMIM:201000
Bardet-Biedl Syndrome 12
Hypogonadism, Abdominal mass, Obesity OMIM:615989
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity, Type II diabetes mellitus OMIM:615812
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Obesity, Type II ... ORPHA:91
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Premature adrenarche ORPHA:813
Down Syndrome
Type II diabetes mellitus, Umbilical hernia, Hypothyroidism, Obesity ORPHA:870
Webb-Dattani Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Adrenocorti... OMIM:615926
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Large for gestational age OMIM:616026
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... ORPHA:96149
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... OMIM:616078
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity, Dysphagia ORPHA:2822
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Diabetes mellitus, Abnormality of thyroid physiology, Obesity ORPHA:563
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac... ORPHA:466950
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Obesity, Pi... ORPHA:98908
Desbuquois Dysplasia 1
Obesity OMIM:251450
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Increased body... ORPHA:79240
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Overweight, Obesity ORPHA:247353
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Atypical Werner Syndrome
Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Insulin-resistant diab... ORPHA:79474
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Pancreati... ORPHA:99889
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behav... ORPHA:369950
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... OMIM:216550
Monosomy 13Q34
Hepatic steatosis, Obesity ORPHA:96168
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity OMIM:618493
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Sotos Syndrome
Aggressive behavior, Increased body weight, Overgrowth, Attention deficit hyperactivity disorder,... OMIM:117550
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Failure to thrive, Lipoatrophy, Decreased serum leptin OMIM:614008
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Obesity, D... ORPHA:478
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ... OMIM:301072
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Hepatic steatosis, Abnormal repetitive mannerisms, Restrictive behavi... OMIM:619475
Achondroplasia
Obesity ORPHA:15
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:466943
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Obesity, Increased circulating renin level, Cholecys... ORPHA:90041
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Tall stature, Adrenocortical cytomegaly, Inguinal hernia, Congenital d... ORPHA:116
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, ... ORPHA:96253
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Male hypogonadism, Pancreatitis, Obesity OMIM:619471
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus OMIM:619269
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Inguinal hernia, Diabetes mellitus, Hypothyroidism OMIM:616541
Ulnar-Mammary Syndrome
Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty ORPHA:3138
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder ORPHA:2637
Cohen Syndrome
Failure to thrive in infancy, Obesity, Delayed puberty ORPHA:193
Retinitis Pigmentosa 74
Obesity OMIM:616562
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Chops Syndrome
Splenomegaly, Obesity OMIM:616368
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Abnormal repetitive mannerisms, Obesity OMIM:618653
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99413
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:881
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... ORPHA:99226
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Obesity, Hypogonadism OMIM:614231
White-Kernohan Syndrome
Hypothyroidism, Obesity, Attention deficit hyperactivity disorder OMIM:619426
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... ORPHA:529962
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Obesity ORPHA:369837
Digeorge Syndrome
Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ... OMIM:188400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... ORPHA:353281
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Truncal obesity, Failure to thrive, Pancreatitis OMIM:222700
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Splenome... ORPHA:567
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia ORPHA:48652
Carney Complex
Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Dorsocervical fat pad, Follicula... ORPHA:1359
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestational age ORPHA:125
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... ORPHA:1772
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
Rubinstein-Taybi Syndrome 1
Accessory spleen, Hyperactivity, Small for gestational age, Impulsivity, Premature thelarche, Fle... OMIM:180849
Witteveen-Kolk Syndrome
Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s... OMIM:613406
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis OMIM:619321
Myhre Syndrome
Small for gestational age, Obesity, Camptodactyly OMIM:139210
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... ORPHA:740
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Portal hypertension, Flexion co... OMIM:194050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test ORPHA:444077
Williams Syndrome
Inguinal hernia, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Abnormal dental ena... ORPHA:904
Primrose Syndrome
Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Aggressive beha... OMIM:259050
Hellp Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:244242
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity, Pseudohypoparathyroidism OMIM:617157
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repetitive m... OMIM:612474
Carpenter Syndrome 2
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture OMIM:614976
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Hypogonadism, Paroxysmal bursts of laughter, Obesity OMIM:309580
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Truncal obesity, Compulsive behaviors, Attention deficit hyperac... ORPHA:199
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
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 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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