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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

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