banner
Genes Phenotypes Help, News, Blog

Gene: Plekhn1 MGI:2387630

Log in to follow
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
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Type II diabetes mel... ORPHA:71529
Obesity Due To Prohormone Convertase I Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Decreased response t... ORPHA:71526
Macrosomia Adiposa Congenita
Obesity, Polyphagia, Large for gestational age, Adrenocortical adenoma OMIM:248100
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Polyphagia, Tall stature OMIM:618406
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Polyphagia, Hypogonadism OMIM:614962
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Bardet-Biedl Syndrome 22
Obesity, Polyphagia, Large for gestational age, Hypogonadism OMIM:617119
Obesity, Hyperphagia, And Developmental Delay
Obesity, Polyphagia OMIM:613886
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Obesity, Polyphagia OMIM:617885
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Polyph... OMIM:614963
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Large for gestational age, Agitation, Diffuse pancreatic islet hyperplasia, Hyp... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Maternal diabetes, Large for gestational age, Agitation, Diffuse pancreatic isl... ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Small for gestational age, Maternal diabetes, Large for gestational age, Agitat... ORPHA:324575
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Abnormal abdomen morphology, Increased circulating free T3, Decreased... OMIM:275000
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Attention deficit hyperactivity disorder, Polyphagia, Obesity ORPHA:369873
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Agitation, Diffuse pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:276556
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Adrenal insuffici... OMIM:609734
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity, Polyphagia ORPHA:177910
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 11
Obesity, Hypogonadism OMIM:615988
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Carcinoma Of Esophagus
Obesity, Weight loss, Dysphagia ORPHA:70482
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity ORPHA:140941
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia OMIM:616521
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:254516
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyphagia, Polydipsia OMIM:222100
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Polyphagia ORPHA:411515
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia ORPHA:163690
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Insulinoma
Hyperinsulinemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia, Neoplasm of the adrenal... ORPHA:97279
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
6Q16 Microdeletion Syndrome
Obesity, Polyphagia ORPHA:171829
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell... OMIM:601820
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 9
Obesity, Polyphagia, Polydipsia, Truncal obesity OMIM:615986
Chromosome Xq26.3 Duplication Syndrome
Increased circulating prolactin concentration, Pituitary adenoma, Hypopituitarism, Overgrowth, In... OMIM:300942
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Bardet-Biedl Syndrome 10
Obesity, Hypogonadism OMIM:615987
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Obesity OMIM:608320
Pick Disease Of Brain
Disinhibition, Polyphagia OMIM:172700
Narcolepsy Type 1
Obesity ORPHA:2073
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:608594
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Schaaf-Yang Syndrome
Flexion contracture, Hypogonadism, Camptodactyly, Impulsivity, Polyphagia, Obesity, Failure to th... OMIM:615547
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Bardet-Biedl Syndrome 5
Obesity, Hypogonadism OMIM:615983
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Syndromic X-Linked Intellectual Disability 7
Obesity, Hypogonadism ORPHA:85274
Pediatric-Onset Graves Disease
Hyperactivity, Jaundice, Increased circulating T4 concentration, Elevated hepatic transaminase, T... ORPHA:525731
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Frontotemporal Dementia
Disinhibition, Polyphagia OMIM:600274
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Huntington Disease
Weight loss, Choking episodes, Agitation, Polyphagia, Decreased body mass index, Disinhibition, A... ORPHA:399
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... OMIM:269700
Hyperostosis Frontalis Interna
Diabetes mellitus, Increased circulating prolactin concentration, Obesity OMIM:144800
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Hernández-Aguirre Negrete Syndrome
Delayed puberty, Obesity ORPHA:2139
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... ORPHA:300373
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice, Obesity OMIM:234350
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Summitt Syndrome
Obesity OMIM:272350
Central Precocious Puberty
Isosexual precocious puberty, Premature thelarche, Overgrowth, Increased circulating gonadotropin... ORPHA:759
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adipon... OMIM:615238
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Cidec-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Decreased serum le... ORPHA:435651
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Hepatomegaly ORPHA:2432
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity, Attention deficit hyperactivity disorder OMIM:613670
Coenzyme Q10 Deficiency, Primary, 2
Bulimia, Obesity, Overweight OMIM:614651
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Hernia of the abdominal wall ORPHA:3055
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Hypergonadotropic hypogonadism, Decreased response to growth hormo... OMIM:606407
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... OMIM:274300
Mehmo Syndrome
Diabetes mellitus, Obesity, Agitation ORPHA:85282
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
Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level, Increased ... ORPHA:79085
Man1B1-Cdg
Polyphagia, Truncal obesity ORPHA:397941
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Type II diabetes mellitus, Obesity OMIM:615703
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98754
Hepatic Veno-Occlusive Disease
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Increased body weight ORPHA:890
Luscan-Lumish Syndrome
Overgrowth, Obesity, Polyphagia OMIM:616831
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Delayed puberty, Polyphagia, Obesity, Abnormal dental enamel morphology ORPHA:251004
Lipe-Related Familial Partial Lipodystrophy
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Hepatic st... ORPHA:435660
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177904
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Secondary Short Bowel Syndrome
Central hypothyroidism, Weight loss, Failure to thrive, Polyphagia, Cholestasis, Primary hypothyr... ORPHA:95427
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177901
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Hypothalamic luteinizing hormone-releas... ORPHA:398079
Cebalid Syndrome
Congenital diaphragmatic hernia, Polyphagia OMIM:618774
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Overweight OMIM:620065
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Abnormal circulating insulin concentration, Large for gestati... ORPHA:293964
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Truncal obesity ORPHA:261483
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:398073
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Delayed puberty, Obesity, Hypogonadism ORPHA:141333
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Agitation, Pancreatic islet-cell hyperplasia, In... ORPHA:276608
Bardet-Biedl Syndrome 16
Obesity, Hypogonadism OMIM:615993
Nephronophthisis 15
Obesity, Elevated hepatic transaminase OMIM:614845
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... ORPHA:69663
Chromosome 22Q13 Duplication Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Polyphagia OMIM:615538
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Failure to thrive, Diabetes mellitus... ORPHA:181393
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia ORPHA:228402
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Bardet-Biedl Syndrome 7
Obesity, Hypogonadism OMIM:615984
Bardet-Biedl Syndrome 19
Hepatic steatosis, Obesity, Hypogonadism OMIM:615996
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Retinitis Pigmentosa
Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity ORPHA:791
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Flexion contracture, Precocious puberty, Hypogonadism, Hypothalamic lutei... ORPHA:398069
Bardet-Biedl Syndrome 2
Diabetes mellitus, Obesity, Hypogonadism OMIM:615981
Wagro Syndrome
Obesity, Polyphagia, Agitation OMIM:612469
Bardet-Biedl Syndrome 4
Obesity, Hypogonadism OMIM:615982
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:739
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:444002
Trisomy 18P
Attention deficit hyperactivity disorder, Polyphagia ORPHA:1715
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... ORPHA:54595
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Male hypogonadi... OMIM:300148
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity, Lipoma, Oral-pharyngeal dysphagia ORPHA:480907
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries OMIM:184700
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congen... OMIM:614450
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity ORPHA:3085
Laurence-Moon Syndrome
Type II diabetes mellitus, Obesity, Congenital hepatic fibrosis ORPHA:2377
Chung-Jansen Syndrome
Impulsivity, Obesity, Attention deficit hyperactivity disorder OMIM:617991
Bardet-Biedl Syndrome 8
Obesity, Hypogonadism OMIM:615985
Gangliocytoma
Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal prolactin level, Polyph... ORPHA:251937
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder OMIM:301013
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Trisomy 5P
Obesity ORPHA:1742
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Decreased circulating ACTH level, Agitation, Pigmented micr... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... OMIM:610489
Prader-Willi Syndrome
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... OMIM:176270
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Borjeson-Forssman-Lehmann Syndrome
Delayed puberty, Obesity OMIM:301900
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Small for gestational age, Increased circulating gonadotropin level, Decreased seru... OMIM:300869
Angelman Syndrome
Precocious puberty in females, Hyperactivity, Polyphagia, Dysphagia, Obesity, Delayed menarche ORPHA:72
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Temple Syndrome
Flexion contracture, Precocious puberty, Small for gestational age, Maturity-onset diabetes of th... OMIM:616222
Mody
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Large for ges... ORPHA:552
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Abdominal obesity, Decreased response to growth hormone stimulatio... OMIM:618160
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:2233
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Reduced circulating pro... ORPHA:79444
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Dysphagia OMIM:604360
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity, Absence of pubertal development OMIM:610628
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Type II diabetes mellitus, Eunuchoid habitus, Abnormality of the thyroid gland, Obe... ORPHA:2234
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Bardet-Biedl Syndrome 21
Obesity, Elevated hepatic transaminase, Overweight OMIM:617406
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Agitation OMIM:607485
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hyperactivity, Obesity, Congenital hypothyroidism OMIM:614613
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Senior-Loken Syndrome 9
Hepatic fibrosis, Obesity, Cholestasis, Hypogonadism OMIM:616629
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Elevated hepatic transaminase, Large for gestational age, Agitation, Hyperinsul... ORPHA:263455
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Obesity, Biliary tract abnormality, Type II diabetes mellitus ORPHA:3191
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Hepatic fibrosis, Cholestasis, Hepatomegaly, Obesity, Splenomegaly OMIM:615630
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Obesity ORPHA:352530
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Obesity ORPHA:3077
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism OMIM:612463
48,Xxyy Syndrome
Type II diabetes mellitus, Inguinal hernia, Attention deficit hyperactivity disorder, Hypergonado... ORPHA:10
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Reduced circulating pro... ORPHA:79443
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Enamel hypoplasia, Hip contracture, Inguinal hernia, Truncal obesity, Amelogenesis imperfecta, Ob... OMIM:618363
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618089
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity OMIM:600955
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... ORPHA:280365
13Q12.3 Microdeletion Syndrome
Hyperactivity, Camptodactyly, Failure to thrive, Congenital diaphragmatic hernia, Obesity ORPHA:412035
Weaver Syndrome
Joint contracture of the hand, Camptodactyly, Overgrowth, Inguinal hernia, Polyphagia, Umbilical ... OMIM:277590
Wilson Disease
Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa... ORPHA:905
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Adrenocortical Carcinoma
Increased serum estradiol, Hyperaldosteronism, Weight loss, Increased circulating cortisol level,... ORPHA:1501
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Attention deficit hyperactivity disorder, Increased body weight ORPHA:589905
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellit... OMIM:615830
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Truncal obesity ORPHA:2928
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hypogonadism OMIM:601794
Rafiq Syndrome
Obesity, Flexion contracture, Truncal obesity OMIM:614202
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity, Hypogonadism ORPHA:363741
Baralle-Macken Syndrome
Obesity OMIM:619255
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Flexion contracture, Male hypogonadism, Obesity, Restlessness OMIM:300055
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Primary Pigmented Nodular Adrenocortical Disease
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... ORPHA:189439
Pseudopseudohypoparathyroidism
Elevated circulating parathyroid hormone level, Obesity, Abnormality of the endocrine system ORPHA:79445
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Hyperinsulinemia, Decreased body weight, Enlarged polycystic ovaries, Weight l... ORPHA:2298
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholesterol gallstones, Hepatic steatosis, Cholestasis, Acute hepatic steatosis, Obesi... ORPHA:209902
7Q11.23 Microduplication Syndrome
Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Polyphagia, Obesity ORPHA:96121
Perrault Syndrome 4
Decreased serum estradiol, Disproportionate tall stature, Increased circulating gonadotropin leve... OMIM:615300
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity OMIM:618124
Adnp Syndrome
Inguinal hernia, Attention deficit hyperactivity disorder, Polyphagia, Truncal obesity, Umbilical... ORPHA:404448
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... ORPHA:96184
Morgagni-Stewart-Morel Syndrome
Hypothyroidism, Abnormality of the endocrine system, Diabetes mellitus, Abnormality of the thyroi... ORPHA:77296
Macrocephaly/Autism Syndrome
Large for gestational age, Overgrowth, Hepatomegaly, Obesity, Splenomegaly OMIM:605309
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Polyphagia ORPHA:251028
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia OMIM:156200
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration... OMIM:612462
Laurence-Moon Syndrome
Obesity OMIM:245800
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Obesity OMIM:600430
Insulin-Like Growth Factor I, Resistance To
Decreased body weight, Reduced subcutaneous adipose tissue, Agitation, Lipodystrophy, Increased c... OMIM:270450
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothalamic gonadotropin-rel... ORPHA:2235
Congenital-Onset Steinert Myotonic Dystrophy
Hyperactivity, Obesity, Decreased body weight, Dysphagia ORPHA:589821
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Elevated hepatic transaminase, De... ORPHA:94086
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypogonadism, Small for gestational age, Failure to thrive, Attention deficit hype... ORPHA:73272
Wagr Syndrome
Obesity ORPHA:893
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Puberty and gonadal disorders ORPHA:464282
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Pineal cyst, Enlarged kidne... OMIM:615873
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Obesity, Dysphagia ORPHA:411511
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Distal 16P11.2 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Umbilical hernia, Trun... ORPHA:284180
Combined Oxidative Phosphorylation Deficiency 54
Obesity, Hypergonadotropic hypogonadism OMIM:619737
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... ORPHA:293987
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Hypogonadism, Obesity, Flexion contracture of toe ORPHA:3409
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Obesity, Tall stature OMIM:618430
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hyperactivity, Abdominal obesity, Hypogonadism OMIM:300354
Retinitis Pigmentosa 51
Obesity OMIM:613464
Joubert Syndrome 8
Prolonged neonatal jaundice, Obesity, Hepatomegaly OMIM:612291
Septo-Optic Dysplasia Spectrum
Diabetes insipidus, Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Abnormality of the... ORPHA:3157
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Large for gestational age, Overgrowth, Inguinal hernia, Umbilical hernia OMIM:618272
19P13.12 Microdeletion Syndrome
Hypothyroidism, Hyperactivity, Precocious puberty, Hepatic steatosis, Obesity, Arthrogryposis mul... ORPHA:254346
Early-Onset Schizophrenia
Addictive behavior, Restlessness, Attention deficit hyperactivity disorder, Polyphagia ORPHA:96369
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity, Polydipsia OMIM:615994
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Hypothyroidism, Hypogonadism, Elevated circulating parathyroid hormone level, ... OMIM:103580
15Q24 Microdeletion Syndrome
Hernia, Decreased response to growth hormone stimulation test, Small for gestational age, Failure... ORPHA:94065
Joubert Syndrome 37
Obesity, Hepatomegaly OMIM:619185
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Microtriplication 11Q24.1
Obesity ORPHA:289522
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Atkin-Flaitz Syndrome
Obesity, Tall stature OMIM:300431
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Increased circulating cortisol level, Abnormal response t... ORPHA:79644
Carpenter Syndrome
Polysplenia, Obesity, Umbilical hernia ORPHA:65759
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Rett Syndrome
Failure to thrive, Cholecystitis, Increased serum leptin, Agitation ORPHA:778
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Camptodactyly, Attention deficit hyperactivity disorder, Abdominal obesity, Disproportionate tall... OMIM:301039
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity, Pseudohypoparathyroidism, Abnormality of the endocrine system ORPHA:464288
Congenital Myopathy 9A
Obesity OMIM:618822
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Hyperactivity, Obesity, Hepatomegaly ORPHA:163681
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Polysplenia, Obesity OMIM:610543
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity, Left ventricular hypertrophy OMIM:615418
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Abnormal eating behavior, Hyperactivity, Obesity, Dysphagia ORPHA:98794
Radio-Tartaglia Syndrome
Precocious puberty, Impulsivity, Attention deficit hyperactivity disorder, Dysphagia, Obesity OMIM:619312
Megalencephaly
Truncal obesity ORPHA:2477
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth hormone stimul... OMIM:203800
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
X-Linked Intellectual Disability, Hedera Type
Obesity, Left ventricular hypertrophy ORPHA:93952
Dysbetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Hepatomegaly, Obesity ORPHA:412
1P36 Deletion Syndrome
Camptodactyly of finger, Hypothyroidism, Abnormality of the liver, Hypogonadism, Hepatic steatosi... ORPHA:1606
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Laron Syndrome
Delayed puberty, Abnormality of the endocrine system, Truncal obesity ORPHA:633
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hepatic fibrosis, Obesity, Hypogonadism ORPHA:110
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Decrea... ORPHA:226313
48,Xxxy Syndrome
Hypogonadism, Type II diabetes mellitus, Inguinal hernia, Attention deficit hyperactivity disorde... ORPHA:96263
Shox-Related Short Stature
Obesity ORPHA:314795
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Flexion contracture of digit, Hypogonadism, Truncal obesity ORPHA:3041
Cornelia De Lange Syndrome 5
Hypogonadism, Truncal obesity OMIM:300882
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Achilles tendon contracture, Lipodystrophy, Decreased cervical spine f... ORPHA:98855
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity, Abnormal dental enamel morphology ORPHA:2180
Smith-Magenis Syndrome
Hypothyroidism, Precocious puberty, Delayed puberty, Attention deficit hyperactivity disorder, Ob... ORPHA:819
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Obesity OMIM:618620
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hyperactivity, Hypogonadism, Cachexia, Inguinal hernia, Obesity ORPHA:85293
X-Linked Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Achilles tendon contracture, Lipodystrophy, Decreased cervical spine f... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Achilles tendon contracture, Lipodystrophy, Decreased cervical spine f... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elbow flexion contracture, Achilles tendon contracture, Lipodystrophy, Decreased cervical spine f... ORPHA:98853
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Hyperthyroidism, Neoplasm of the thyroid gland, Abnormal calcium-phosphate re... ORPHA:457059
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Increased body mass index, Truncal obesity OMIM:300957
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Jaundice, Elevated hepatic transaminase, Overweight, Hepatomegaly, Obe... ORPHA:26793
Momo Syndrome
Large for gestational age, Overgrowth, Abnormality of the thyroid gland, Tall stature, Obesity ORPHA:2563
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Obesity, Abnormal dental enamel morphology ORPHA:439822
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity, Attention deficit hyperactivity disorder OMIM:619680
Smith-Magenis Syndrome
Hyperactivity, Abnormality of the thyroid gland, Increased body weight OMIM:182290
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Obesity ORPHA:86816
Tatton-Brown-Rahman Syndrome
Obesity, Neuroendocrine neoplasm, Umbilical hernia, Proportionate tall stature ORPHA:404443
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly, Obesity ORPHA:98907
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Portal fibrosis, Hepatic steatosis, F... ORPHA:264580
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity, Attention deficit hyperactivity disorder, Congenital diaphragmatic he... ORPHA:261197
Pituitary Adenoma 4, Acth-Secreting
Increased circulating ACTH level, Obesity, Abdominal obesity, Pituitary adenoma OMIM:219090
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Decreased body weight, Agitation, Overweight, Dysphagia, Amelogenesis imperfec... OMIM:619229
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Umbilical hernia ORPHA:1001
Angelman Syndrome
Hyperactivity, Obesity OMIM:105830
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss ORPHA:251071
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Obesity, Hepatomegaly OMIM:618443
Carpenter Syndrome 1
Precocious puberty, Joint contracture of the hand, Polysplenia, Camptodactyly, Omphalocele, Obesi... OMIM:201000
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Hypogonadism, Left ventricular hypertrophy, Biliary tract abnormality, Diabetes... OMIM:209900
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Overgrowth, Omphalocele, Umbilical hernia ORPHA:254534
Bardet-Biedl Syndrome 12
Obesity, Abdominal mass, Hypogonadism OMIM:615989
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... ORPHA:91355
White-Sutton Syndrome
Hyperactivity, Failure to thrive, Congenital diaphragmatic hernia, Overfriendliness, Obesity OMIM:616364
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Abdominal Obesity-Metabolic Syndrome 3
Type II diabetes mellitus, Abdominal obesity, Truncal obesity OMIM:615812
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Hypogonadism, Truncal obesity ORPHA:127
Aromatase Deficiency
Enlarged polycystic ovaries, Type II diabetes mellitus, Eunuchoid habitus, Hepatic steatosis, Hyp... ORPHA:91
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Hypothyroidism, Camptodactyly, Polyphagia, Dysphagia, Congenital hypothy... OMIM:607872
Silver-Russell Syndrome
Precocious puberty, Cachexia, Obesity, Failure to thrive in infancy, Premature adrenarche ORPHA:813
Down Syndrome
Hypothyroidism, Obesity, Umbilical hernia, Type II diabetes mellitus ORPHA:870
Autosomal Recessive Spastic Paraplegia Type 11
Obesity, Overweight, Dysphagia ORPHA:2822
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Elevated hepatic transaminase, Large for gestational age, Hepatomegaly OMIM:616026
Alström Syndrome
Elevated hepatic transaminase, Dorsocervical fat pad, Hepatic steatosis, Hepatosplenomegaly, Decr... ORPHA:64
Keppen-Lubinsky Syndrome
Flexion contracture, Failure to thrive, Decreased serum leptin, Generalized lipodystrophy, Lack o... OMIM:614098
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Peripartum Cardiomyopathy
Diabetes mellitus, Obesity, Left ventricular hypertrophy, Abnormality of thyroid physiology ORPHA:563
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Desbuquois Dysplasia 1
Obesity OMIM:251450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegal... ORPHA:79240
Atypical Werner Syndrome
Hyperinsulinemia, Decreased body weight, Hypogonadism, Type II diabetes mellitus, Hepatic steatos... ORPHA:79474
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Pineal cyst, Elevated hepatic transaminase, Hepatic steatosis, Diabetes mel... ORPHA:98908
1P21.3 Microdeletion Syndrome
Obesity, Abnormal eating behavior ORPHA:293948
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Obesity, Femoral hernia ORPHA:96147
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Decreased response to growth hormone stimulation test, Hypogonadism, Elevated calc... ORPHA:280651
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Obesity, Cholelithiasis, Umb... OMIM:301066
White-Sutton Syndrome
Hyperactivity, Ventral hernia, Inguinal hernia, Congenital diaphragmatic hernia, Obesity ORPHA:468678
Distal Monosomy 12Q
Hyperactivity, Congenital hypertrophy of left ventricle, Biliary atresia, Elbow flexion contractu... ORPHA:96149
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... OMIM:216550
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Monosomy 13Q34
Hepatic steatosis, Obesity ORPHA:96168
Meningioma
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... ORPHA:2495
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Kallmann Syndrome
Anterior hypopituitarism, Hypothalamic gonadotropin-releasing hormone deficiency, Delayed puberty... ORPHA:478
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Elbow flexion contracture, Obesity, Hip contracture OMIM:618493
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Lipoatrophy, Flexion contracture, Failure to thrive OMIM:614008
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Flexion contracture, Micronodular cirrhosis, Limb joint contracture, Hepatomegal... OMIM:301072
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Achondroplasia
Obesity ORPHA:15
Beckwith-Wiedemann Syndrome
Omphalocele, Hypothyroidism, Adrenocortical cytomegaly, Adrenocortical carcinoma, Enlarged kidney... ORPHA:116
Sotos Syndrome
Overgrowth, Attention deficit hyperactivity disorder, Tall stature, Prolonged neonatal jaundice, ... OMIM:117550
Kleefstra Syndrome 1
Obesity OMIM:610253
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Attention deficit hyperactivity disorder, Obesity, Dysphagia ORPHA:466950
3Q29 Microduplication Syndrome
Obesity, Camptodactyly of toe ORPHA:251038
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Attention deficit hyperactivity disorder, Truncal obesity ORPHA:2637
Gaisböck Syndrome
Increased circulating renin level, Diabetes mellitus, Cholecystitis, Overweight, Obesity, Splenom... ORPHA:90041
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus OMIM:619269
Cohen Syndrome
Delayed puberty, Obesity, Failure to thrive in infancy ORPHA:193
Cushing Disease
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... ORPHA:96253
Ulnar-Mammary Syndrome
Camptodactyly of finger, Delayed puberty, Obesity, Hernia of the abdominal wall ORPHA:3138
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Obesity, Attention deficit hyperactivity disorder OMIM:616078
Bardet-Biedl Syndrome 20
Male hypogonadism, Obesity, Elevated hepatic transaminase, Pancreatitis OMIM:619471
Retinitis Pigmentosa 74
Obesity OMIM:616562
Kleefstra Syndrome
Obesity, Hernia ORPHA:261494
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Hypothyroidism, Diabetes mellitus, Truncal obesity OMIM:616541
Cushing Syndrome Due To Ectopic Acth Secretion
Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Do... ORPHA:99889
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... ORPHA:226307
Chops Syndrome
Obesity, Splenomegaly OMIM:616368
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Attention d... ORPHA:177907
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis with toxic multi... ORPHA:79102
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Attention deficit hyperactivity disorder, Dysphagia ORPHA:466943
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Hypogonadism, Jaundice, Elevated hepatic transaminase, Diabetes mellitus, Obesity OMIM:614231
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... ORPHA:99226
White-Kernohan Syndrome
Hypothyroidism, Obesity, Attention deficit hyperactivity disorder OMIM:619426
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Precocious puberty, Type II diabetes mellitus, Truncal obesity OMIM:210720
Partial Deletion Of The Short Arm Of Chromosome 7
Obesity, Dysphagia ORPHA:261911
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Decreased body weight, Jaundice, Elevated hepatic transaminase, Agitation, Abnorma... OMIM:619475
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Digeorge Syndrome
Hypothyroidism, Hypoplasia of the thymus, Hepatic steatosis, Inguinal hernia, Parathyroid hypopla... OMIM:188400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Obesity, Hypoparathyroidism ORPHA:369837
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... ORPHA:1435
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Obesity OMIM:614947
22Q11.2 Deletion Syndrome
Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Failure to thrive, Inguinal hernia, At... ORPHA:567
Lysinuric Protein Intolerance
Splenomegaly, Failure to thrive, Hepatomegaly, Truncal obesity, Pancreatitis OMIM:222700
Carney Complex
Increased circulating prolactin concentration, Precocious puberty, Increased circulating cortisol... ORPHA:1359
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity, Abnormality of the pineal gland ORPHA:369950
Bloom Syndrome
Small for gestational age, Diabetes mellitus, Adipose tissue loss, Abdominal obesity ORPHA:125
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Increased circulating gonadotropin level, Delayed puberty, Decreased serum testos... ORPHA:1772
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity OMIM:618653
Monosomy 22Q13.3
Hyperactivity, Obesity, Umbilical hernia ORPHA:48652
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Hyperactivity, Flexion contracture, Premature thelarche, Keloids, Small for ge... OMIM:180849
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Hypoplasia of the ovary, Flexion contracture, Abdominal obesity OMIM:619321
17Q24.2 Microdeletion Syndrome
Pineal cyst, Failure to thrive in infancy, Decreased response to growth hormone stimulation test,... ORPHA:529962
Myhre Syndrome
Small for gestational age, Obesity, Camptodactyly OMIM:139210
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Absence of subcutaneous fat, Pubertal developmental failure in females, Weig... ORPHA:740
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Keloids, Failure to thrive, Impulsivity, Obesity ORPHA:353281
Witteveen-Kolk Syndrome
Hyperactivity, Decreased response to growth hormone stimulation test, Small for gestational age, ... OMIM:613406
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-Beuren Syndrome
Hypothyroidism, Flexion contracture, Early onset of sexual maturation, Inguinal hernia, Diabetes ... OMIM:194050
Williams Syndrome
Hypothyroidism, Precocious puberty, Type II diabetes mellitus, Inguinal hernia, Attention deficit... ORPHA:904
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity, Pseudohypoparathyroidism OMIM:617157
Ulnar-Mammary Syndrome
Anterior pituitary hypoplasia, Elbow flexion contracture, Ectopic posterior pituitary, Inguinal h... OMIM:181450
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Hellp Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:244242
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Keloids, Corneal scarring, Failure to thrive, Impulsivity, Obesity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Keloids, Corneal scarring, Failure to thrive, Impulsivity, Obesity ORPHA:353277
Carpenter Syndrome 2
Knee flexion contracture, Obesity, Camptodactyly, Umbilical hernia OMIM:614976
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hyperactivity, Obesity, Hypogonadism OMIM:309580
Cornelia De Lange Syndrome
Failure to thrive, Delayed puberty, Congenital diaphragmatic hernia, Attention deficit hyperactiv... ORPHA:199
Primrose Syndrome
Knee flexion contracture, Hypothyroidism, Flexion contracture, Hip contracture, Diabetes mellitus... OMIM:259050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Failure to thrive, Camptodactyly, Truncal obesity OMIM:612474
Pallister-Killian Syndrome
Enamel hypoplasia, Flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Camptod... 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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter