banner
Genes Phenotypes Help, News, Blog

Gene: Selenom MGI:2149786

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:
selenoprotein M
Synonyms:
1500040L08Rik,  Selm,  SelM

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 Selenom 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 Selenom by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:256450
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... ORPHA:71526
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age OMIM:240900
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Obesity And Hypopigmentation
Hyperinsulinemia, Overgrowth, Obesity OMIM:620195
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Narcolepsy Type 1
Obesity ORPHA:2073
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Obesity ORPHA:329249
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Summitt Syndrome
Obesity OMIM:272350
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Obesity OMIM:620270
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... OMIM:610600
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Obesity OMIM:615703
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity OMIM:616756
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body w... OMIM:614450
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Late-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556037
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Inability to wa... OMIM:300148
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Hypogonadism ORPHA:261483
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty ORPHA:141333
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Early-Onset Familial Hypoaldosteronism
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... ORPHA:556030
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level, Truncal obesity, Abnormal circulating insulin concen... ORPHA:293964
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity OMIM:604931
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... OMIM:274300
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypoinsulinemia, Hypogonadotropic hypogonadism, Obesity OMIM:600955
Bardet-Biedl Syndrome 2
Diabetes mellitus, Hypogonadism, Obesity OMIM:615981
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... ORPHA:276608
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435660
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Diabetes mellitus, Lipodystrophy, Hyperlipidemia OMIM:615980
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Loss of ambulation, Unsteady gait, Ataxia, Obesity OMIM:618124
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity ORPHA:369873
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... OMIM:300869
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... ORPHA:90793
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Gait disturbance, Camptodactyly of finger ORPHA:2928
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Mehmo Syndrome
Diabetes mellitus, Obesity ORPHA:85282
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Nephronophthisis 15
Obesity OMIM:614845
Laurence-Moon Syndrome
Type II diabetes mellitus, Ataxia, Obesity ORPHA:2377
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased c... OMIM:615830
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development OMIM:610628
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Laurence-Moon Syndrome
Ataxia, Obesity OMIM:245800
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Trisomy 5P
Obesity ORPHA:1742
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... ORPHA:2234
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Gait ataxia, Disproportionate tall stature, Hy... OMIM:615300
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Gait disturbance ORPHA:2429
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Ataxia, Puberty and gonadal disorders, Unsteady gait, Obesity, Difficulty walking ORPHA:464282
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Baralle-Macken Syndrome
Inability to walk, Obesity OMIM:619255
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance ORPHA:93952
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Congenital Myopathy 9A
Obesity, Akinesia OMIM:618822
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Flexion contracture, Obesity, Choreoathetosis, Bradykinesia, Shuffling gait, Male hypogon... OMIM:300055
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
Morm Syndrome
Truncal obesity ORPHA:75858
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism OMIM:612463
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Obesity ORPHA:411515
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Ataxia-Oculomotor Apraxia Type 4
Ataxia, Obesity ORPHA:459033
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Diffuse pancreatic islet h... ORPHA:276575
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Spastic Paraplegia 11, Autosomal Recessive
Tip-toe gait, Ataxia, Spastic gait, Obesity OMIM:604360
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-onset diabetes ... ORPHA:324575
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Obesity ORPHA:254525
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Diffuse... ORPHA:276580
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
Rafiq Syndrome
Truncal obesity, Flexion contracture, Ataxia, Obesity OMIM:614202
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Idiopathic Intracranial Hypertension
Lethargy, Obesity ORPHA:238624
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion co... ORPHA:98855
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity ORPHA:79445
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity ORPHA:261229
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Hypertriglyceridemia, Obesity OMIM:618620
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Ataxia, Obesity OMIM:616267
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Immunodeficiency 61
Obesity OMIM:300310
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism... OMIM:612462
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity OMIM:605231
Wilson-Turner Syndrome
Truncal obesity, Hypogonadotropic hypogonadism ORPHA:3459
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Flexion contracture, Obesity, Hypogonadism, Camp... OMIM:615547
Blue Diaper Syndrome
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:94086
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Obesity ORPHA:3077
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
6Q16 Microdeletion Syndrome
Broad-based gait, Obesity ORPHA:171829
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
48,Xxyy Syndrome
Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Hypergonadotropic hypogonadism, Obesi... ORPHA:10
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion co... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion co... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion co... ORPHA:98853
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Obesity ORPHA:3191
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Hypercholesterolemia ORPHA:86816
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... OMIM:615812
Beta-Mercaptolactate Cysteine Disulfiduria
Umbilical hernia, Obesity ORPHA:1035
Rett Syndrome
Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking, Increased serum leptin, Fa... ORPHA:778
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Diffuse pancreatic islet hyperplasia, Hyperinsulinemic hypoglycemia, E... ORPHA:276556
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Chung-Jansen Syndrome
Obesity OMIM:617991
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Laron Syndrome
Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Delayed puberty ORPHA:633
Pseudohypoparathyroidism, Type Ia
Obesity, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, ... OMIM:103580
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Microtriplication 11Q24.1
Hyperlipidemia, Obesity ORPHA:289522
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Urban-Rogers-Meyer Syndrome
Hypogonadism, Camptodactyly of finger, Flexion contracture of toe, Obesity ORPHA:3409
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Wagr Syndrome
Obesity ORPHA:893
Clark-Baraitser Syndrome
Obesity OMIM:617752
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Obesity, Congenital hypothyroidism OMIM:614613
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Increased body mass index, Gait disturbance, Truncal obesity OMIM:300957
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Unsteady gait, Dysmetria, Truncal obesity, Hypogonadism, Fle... ORPHA:3041
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity OMIM:619737
Retinitis Pigmentosa 51
Obesity OMIM:613464
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... ORPHA:90796
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Obesity ORPHA:171839
Joubert Syndrome 32
Ataxia, Tall stature, Large for gestational age OMIM:617757
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
15Q24 Microdeletion Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... ORPHA:94065
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Bardet-Biedl Syndrome 9
Truncal obesity, Obesity OMIM:615986
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... ORPHA:95699
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Gait disturbance, Increased body weight ORPHA:589905
13Q12.3 Microdeletion Syndrome
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism ORPHA:464288
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age OMIM:618272
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
Megalencephaly
Truncal obesity ORPHA:2477
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... ORPHA:263455
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Carpenter Syndrome
Umbilical hernia, Obesity ORPHA:65759
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Gait imbalance, Obesity ORPHA:411511
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Hypogonadism, Delayed puberty, Gait ataxia OMIM:300354
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Obesity OMIM:194072
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Obesity, Tall stature OMIM:618430
Shox-Related Short Stature
Obesity ORPHA:314795
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Gait disturbance... ORPHA:819
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Obesity OMIM:615418
Chromosome 2Q37 Deletion Syndrome
Hypothyroidism, Obesity OMIM:600430
Cornelia De Lange Syndrome 5
Truncal obesity, Hypogonadism OMIM:300882
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Ataxia, Obesity OMIM:620191
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity ORPHA:69663
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Obesity, Pituitary adenoma, Increased circulating ACTH level OMIM:219090
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Neuroendocrine neoplasm, Proportionate tall stature, Obesity ORPHA:404443
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia ORPHA:254534
Joubert Syndrome 8
Ataxia, Obesity OMIM:612291
Dysbetalipoproteinemia
Diabetes mellitus, Hypertriglyceridemia, Obesity, Xanthelasma, Hypercholesterolemia, Hypothyroidism ORPHA:412
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
Ring Chromosome Y Syndrome
Male hypogonadism, Streak ovary, Obesity ORPHA:261529
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... ORPHA:98754
19P13.12 Microdeletion Syndrome
Precocious puberty, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, Hypothyroidism ORPHA:254346
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... OMIM:269700
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Broad-based gait, Camptodactyly of finger, Cachexia, Obesity, Hypogonadism ORPHA:85293
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... ORPHA:98793
Down Syndrome
Obesity, Gait disturbance, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism ORPHA:870
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... ORPHA:177901
Adiposis Dolorosa
Hypothyroidism, Obesity ORPHA:36397
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Inguinal hernia, Ataxia, Diabetes mellitus, Dysmetria, Truncal obesity, Dysdiad... OMIM:616541
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli... ORPHA:96263
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity ORPHA:439822
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature ORPHA:2563
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity OMIM:618493
Radio-Tartaglia Syndrome
Precocious puberty, Ataxia, Gait imbalance, Obesity OMIM:619312
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Metaphyseal Chondrodysplasia, Schmid Type
Waddling gait, Obesity ORPHA:174
Septo-Optic Dysplasia Spectrum
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Abnormality of the hypothalamus-pituit... ORPHA:3157
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Increased circulating free fatty acid level, Overweight, Obesity, Leth... ORPHA:26793
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Abnormality of circulating cortisol l... ORPHA:320
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypogonadism, Obesity ORPHA:110
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Ob... ORPHA:478
Angelman Syndrome
Progressive gait ataxia, Ataxia, Obesity, Broad-based gait OMIM:105830
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Large for gestational age OMIM:605309
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Gait imbalance, Obesity ORPHA:98794
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Abdominal obesity, Camptodactyly OMIM:301039
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Truncal obesity, Failure to thrive, Small for gestational age ORPHA:73272
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Hypogonadism ORPHA:127
Joubert Syndrome 37
Obesity OMIM:619185
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Tip-toe gait, Spastic gait, Obesity OMIM:617296
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:261197
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity OMIM:615630
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Man1B1-Cdg
Truncal obesity, Broad-based gait ORPHA:397941
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Ataxia, Obesity ORPHA:163681
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Unsteady gait, Ataxia, Obesity OMIM:618443
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Webb-Dattani Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Adrenocorti... OMIM:615926
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Ataxia, Obesity, Difficulty walking ORPHA:98907
Alstrom Syndrome
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:203800
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Delayed puberty ORPHA:251004
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Ataxia, Hypogonadotropic hypogona... ORPHA:2495
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Precocious puberty, Flexion contracture, Increased body weight, Absence of pu... ORPHA:398069
Bardet-Biedl Syndrome 1
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Obesity, Truncal obesity, Abdominal ob... OMIM:209900
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Obesity, Type II diabetes mell... ORPHA:91
Carpenter Syndrome 1
Omphalocele, Precocious puberty, Obesity, Camptodactyly, Umbilical hernia, Joint contracture of t... OMIM:201000
Desbuquois Dysplasia 1
Waddling gait, Obesity OMIM:251450
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Overweight, Inability to walk, Obesity, Decreased body weight, Enamel hypoplasia, Ameloge... OMIM:619229
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Premature adrenarche ORPHA:813
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Overweight, Inability to walk, Obesity, Gait disturbance ORPHA:2822
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Xq21 Microdeletion Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defici... ORPHA:1435
Angelman Syndrome
Broad-based gait, Ataxia, Precocious puberty in females, Inability to walk, Obesity, Delayed mena... ORPHA:72
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Combined Oxidative Phosphorylation Deficiency 15
Inguinal hernia, Unsteady gait, Ataxia, Obesity OMIM:614947
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Kleefstra Syndrome Due To 9Q34 Microdeletion
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity ORPHA:96147
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Prader-Willi Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hypogonadotr... OMIM:176270
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia ORPHA:1001
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, ... ORPHA:96253
White-Sutton Syndrome
Waddling gait, Failure to thrive, Obesity, Congenital diaphragmatic hernia OMIM:616364
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin OMIM:614008
Wilson Disease
Failure to thrive, Increased body weight, Difficulty walking, Weight loss ORPHA:905
Peripartum Cardiomyopathy
Abnormality of thyroid physiology, Diabetes mellitus, Obesity ORPHA:563
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus OMIM:619269
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
8P23.1 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Cohen Syndrome
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... OMIM:216550
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Atypical Werner Syndrome
Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnormal circulating leptin concentration, ... ORPHA:79474
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Retinitis Pigmentosa 74
Obesity OMIM:616562
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Increased circulating renin level, ... ORPHA:90041
Ulnar-Mammary Syndrome
Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty ORPHA:3138
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity ORPHA:251038
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Bardet-Biedl Syndrome 20
Male hypogonadism, Hypercholesterolemia, Obesity OMIM:619471
Generalized Pustular Psoriasis
Overweight, Obesity ORPHA:247353
Achondroplasia
Obesity ORPHA:15
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Diabetes mellitus, Obesity, Pineal cyst, Difficulty walking ORPHA:98908
Kleefstra Syndrome 1
Obesity OMIM:610253
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Obesity, Congenital diaphragmatic hernia ORPHA:468678
Kleefstra Syndrome
Obesity, Hernia ORPHA:261494
Cohen Syndrome
Failure to thrive in infancy, Obesity, Delayed puberty ORPHA:193
Wagro Syndrome
Obesity OMIM:612469
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Monosomy 13Q34
Obesity ORPHA:96168
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Failure to thrive, Abnormality of the pineal gland, Obesity ORPHA:369950
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Large for gestational age OMIM:616026
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus OMIM:210720
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Obesity ORPHA:369837
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity, Difficulty walking OMIM:618653
7Q11.23 Microduplication Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Unsteady gait, Obesity, Dysmetria ORPHA:96121
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Increased body weight, Delayed puberty, Hypercholesterolemia, Failure to th... ORPHA:264580
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Limb joint contracture, Ataxia, Flexion contracture, Truncal obesity, Truncal ataxia OMIM:301072
Distal Deletion 12Q
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Pituitary ... ORPHA:96149
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Precocious puberty, Umbilical hernia, Obesity OMIM:301066
Diamond-Blackfan Anemia 21
Obesity OMIM:620072
Xylt1-Cdg
Truncal obesity ORPHA:370930
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestational age ORPHA:125
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Truncal obesity ORPHA:2637
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Obesity, Decreased response to grow... ORPHA:177907
Chops Syndrome
Obesity OMIM:616368
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight ORPHA:79240
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature OMIM:117550
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Diabetes mellitus, Hypogonadism, Obesity OMIM:614231
Carney Complex
Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma, Elevated circ... ORPHA:1359
Kabuki Syndrome
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger OMIM:619562
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... ORPHA:293987
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... ORPHA:1772
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity, Dysmetria, Gait ataxia ORPHA:75857
White-Kernohan Syndrome
Hypothyroidism, Obesity OMIM:619426
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Ataxia, Overweight, Obesity, Tip-toe gait, Falls, Decreased body weight, Failur... OMIM:619475
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Congenital diaphragmatic hernia, Large f... ORPHA:116
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Obesity, Pineal cyst, Truncal obesity, Fai... OMIM:615873
Myhre Syndrome
Small for gestational age, Ataxia, Obesity, Camptodactyly OMIM:139210
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Shuffling ... ORPHA:740
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Obesity,... ORPHA:567
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy, Decreased response to growth hormone stimulation t... ORPHA:529962
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating parathyroid hormone ... OMIM:188400
Adnp Syndrome
Truncal obesity, Inguinal hernia, Umbilical hernia ORPHA:404448
1P36 Deletion Syndrome
Camptodactyly of finger, Obesity, Hypogonadism, Gait disturbance, Failure to thrive, Hypothyroidism ORPHA:1606
Ulnar-Mammary Syndrome
Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... OMIM:181450
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
African Trypanosomiasis
Akinesia, Abnormality of the endocrine system, Weight loss, Choreoathetosis, Abnormality of renin... ORPHA:3385
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Flexion contracture, Hypoplasia of the ovary OMIM:619321
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity, Pseudohypoparathyroidism OMIM:617157
Monosomy 22Q13.3
Umbilical hernia, Obesity ORPHA:48652
Rubinstein-Taybi Syndrome 1
Small for gestational age, Premature thelarche, Unsteady gait, Flexion contracture, Truncal obesi... OMIM:180849
Lysinuric Protein Intolerance
Truncal obesity, Failure to thrive OMIM:222700
Williams Syndrome
Inguinal hernia, Ataxia, Failure to thrive in infancy, Abnormal dental enamel morphology, Hypogon... ORPHA:904
Williams-Beuren Syndrome
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Flexion contracture, Obesity, E... OMIM:194050
Witteveen-Kolk Syndrome
Inguinal hernia, Small for gestational age, Decreased response to growth hormone stimulation test... OMIM:613406
Hellp Syndrome
Increased body weight ORPHA:244242
Carpenter Syndrome 2
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture OMIM:614976
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Keloids, Failure to thrive, Obesity ORPHA:353281
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Obesity, Congenital hypothyroidism, Camptodactyly, Hypothyroidism OMIM:607872
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Keloids, Failure to thrive, Obesity, Corneal scarring ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Keloids, Failure to thrive, Obesity, Corneal scarring ORPHA:353277
Primrose Syndrome
Hip contracture, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Flexion contracture, ... OMIM:259050
Alström Syndrome
Hypertriglyceridemia, Ataxia, Decreased response to growth hormone stimulation test, Dorsocervica... ORPHA:64
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Failure to thrive, Camptodactyly OMIM:612474
Cornelia De Lange Syndrome
Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia, Delayed puberty ORPHA:199
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Hypogonadism, Obesity OMIM:309580
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Inability to walk, Flexion contrac... 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 Selenom

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 Selenom.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deletion of selenoprotein M leads to obesity without cognitive deficits. The Journal of biological chemistry (July 2013) Selenomtm1(KOMP)Vlcg PMC3764815

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
Selenomtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, 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