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Gene: Selenom MGI:2149786

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
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
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia, Obes... ORPHA:71529
Prader-Willi syndrome (Type 1)
Hypogonadism, Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Hypogonadism, Truncal obesity DECIPHER:53
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty ORPHA:140941
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Increased circulating T4 level, Decreased circulating free T3, Elevated circulating thyroid-stimu... ORPHA:171706
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin level, Truncal obesity, Large for gestational age ORPHA:293964
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Abdominal obesity, Truncal obesity OMIM:618160
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestational age OMIM:256450
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Pituitary hypothyroid... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Pituitary hypothyroid... ORPHA:71526
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestational age OMIM:601820
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
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
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Macrosomia Adiposa Congenita
Obesity, Large for gestational age, Adrenocortical adenoma OMIM:248100
Narcolepsy Type 1
Obesity ORPHA:2073
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity ORPHA:85274
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Abdominal obesity, Diabetes mellitus OMIM:615980
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Summitt Syndrome
Obesity OMIM:272350
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty ORPHA:217377
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Obesity Due To Sim1 Deficiency
Obesity, Attention deficit hyperactivity disorder, Hyperinsulinemia ORPHA:369873
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Failure to thrive, Increased circulating corticosterone ... OMIM:610600
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Dystonia, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Obesity OMIM:616756
Central Precocious Puberty
Overgrowth, Increased circulating gonadotropin level, Isosexual precocious puberty, Premature the... ORPHA:759
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Obesity, Type II diabetes mellitus, Hypertriglyceridemia OMIM:615703
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Broad-b... OMIM:614450
Combined Oxidative Phosphorylation Deficiency 15
Unsteady gait, Obesity, Ataxia OMIM:614947
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Failure to thrive, Elevated serum 11-deoxycortisol, Abno... ORPHA:556037
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty OMIM:604931
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Reduced circulating prolactin concentration OMIM:264120
Mehmo Syndrome
Small for gestational age, Inability to walk, Male hypogonadism, Difficulty walking, Obesity, Dec... OMIM:300148
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:141333
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Congenital hypothyroidism ORPHA:88643
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Failure to thrive, Elevated serum 11-deoxycortisol, Abno... ORPHA:556030
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Failure to thrive, Truncal obesity, Hypogonadism, ... ORPHA:181393
Cubitus Valgus With Mental Retardation And Unusual Facies
Truncal obesity OMIM:300471
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Obesity, Failure to thrive in infancy OMIM:613670
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Truncal obesity ORPHA:261483
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... OMIM:615954
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Lipodystrophy, Decreased adiponectin level, ... ORPHA:79085
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Obesity OMIM:618124
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity, Hyperinsulinemia ORPHA:791
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia OMIM:617885
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... OMIM:616222
Leptin Receptor Deficiency
Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Decreased r... OMIM:614963
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... ORPHA:435651
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... ORPHA:435660
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemia, Increased bod... ORPHA:276608
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Obesity, Ataxia ORPHA:459033
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity OMIM:615982
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Hyperinsulinemia ORPHA:3085
Proprotein Convertase 1/3 Deficiency
Obesity, Hypogonadotropic hypogonadism, Decreased circulating cortisol level OMIM:600955
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity, Hypogonadotropic hypogonadism, Diabetes mellitus OMIM:610628
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Truncal obesity, Camptodactyly of finger ORPHA:2928
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Increased circulating gonadotropin level, Hypogonadism, Abdominal obes... OMIM:300869
Clark-Baraitser Syndrome
Hyperactivity, Obesity OMIM:617752
Mehmo Syndrome
Obesity, Diabetes mellitus ORPHA:85282
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Dorsocervical fat pad, Increased circulating corti... OMIM:615830
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Obesity, Ataxia, Broad-based gait ORPHA:411515
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Dystonia, Ataxia, Waddling gait, Unsteady gait, Obesity, Difficulty walking, Puberty and gonadal ... ORPHA:464282
Baralle-Macken Syndrome
Dystonia, Obesity, Inability to walk OMIM:619255
Fryns Macrocephaly
Truncal obesity, Knee flexion contracture OMIM:600302
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Truncal obesity, Amelogenesis imperfecta, Obesity, Inguinal hernia OMIM:618363
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Primary hypercortisolism, Increased circulating cortisol level, Decreased circulating ACTH level,... OMIM:610489
Laurence-Moon Syndrome
Ataxia, Obesity, Type II diabetes mellitus ORPHA:2377
Halothane Hepatitis
Obesity OMIM:234350
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Unsteady gait, Obesity, Inability to walk, Ataxia OMIM:618443
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:444002
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:2233
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, Akinesia OMIM:618822
Trisomy 5P
Obesity ORPHA:1742
Nephronophthisis 15
Obesity OMIM:614845
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia, Precocious puberty ORPHA:254531
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age ORPHA:2432
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Truncal obesity OMIM:268050
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism OMIM:612463
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Spastic gait, Shuffling gait, Bradykinesia, Wrist flexion contracture, Ataxia, Male hyp... OMIM:300055
Borjeson-Forssman-Lehmann Syndrome
Obesity, Delayed puberty OMIM:301900
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypogonadotropic hypogonadism ORPHA:177910
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Dystonia, Obesity, Lipoma ORPHA:480907
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder OMIM:301013
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Obesity, Decreased response to growth hormo... ORPHA:254516
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity OMIM:613192
Short Stature-Obesity Syndrome
Obesity OMIM:269870
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Obesity, Shuffling gait, Broad-based gait ORPHA:3077
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Gait disturbance, Truncal obesity ORPHA:2429
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Perrault Syndrome 4
Disproportionate tall stature, Hypoplasia of the ovary, Decreased serum estradiol, Increased circ... OMIM:615300
Summitt Syndrome
Obesity, Camptodactyly of finger, Tall stature ORPHA:3210
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Focal pancreatic islet hyperplasia, Excessive insulin response to glucagon test, Hyperinsulinemic... ORPHA:276575
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Obesity, Congenital hypothyroidism, Diabetes mellitus OMIM:614613
X-Linked Intellectual Disability, Hedera Type
Gait disturbance, Dysmetria, Inability to walk, Unsteady gait, Obesity ORPHA:93952
Hyperinsulinism Due To Hnf1A Deficiency
Maternal diabetes, Small for gestational age, Excessive insulin response to glucagon test, Maturi... ORPHA:324575
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Excessive insulin response to glucagon test, Hyperinsulinemic hypoglycemia, La... ORPHA:276580
Chung-Jansen Syndrome
Obesity, Attention deficit hyperactivity disorder OMIM:617991
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Precocious puberty ORPHA:254525
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity OMIM:601794
Spastic Paraplegia 11, Autosomal Recessive
Obesity, Spastic gait, Ataxia, Tip-toe gait OMIM:604360
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... ORPHA:2234
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity ORPHA:363741
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Increased circulating prolactin concentration, Decreased circulating free T3, Thyroid h... ORPHA:99832
Rafiq Syndrome
Ataxia, Obesity, Truncal obesity, Flexion contracture OMIM:614202
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion du... ORPHA:98855
Schaaf-Yang Syndrome
Failure to thrive in infancy, Arthrogryposis multiplex congenita, Hypogonadism, Inability to walk... OMIM:615547
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hypercholesterolemia, Diabetes mellitus, Hypothyroidism, Abn... ORPHA:77296
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity, Congenital hypothyroidism ORPHA:352530
48,Xxyy Syndrome
Type II diabetes mellitus, Tall stature, Abnormal dental enamel morphology, Ataxia, Hypergonadotr... ORPHA:10
Idiopathic Intracranial Hypertension
Obesity, Lethargy ORPHA:238624
Rett Syndrome
Gait disturbance, Dystonia, Failure to thrive, Bradykinesia, Increased serum leptin, Inability to... ORPHA:778
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypercholestero... ORPHA:96184
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Umbilical hernia ORPHA:1035
6Q16 Microdeletion Syndrome
Obesity, Broad-based gait ORPHA:171829
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Hypogonadism, Enamel hypoplasia, Pseudohypoparath... OMIM:612462
Bardet-Biedl Syndrome 21
Obesity, Overweight OMIM:617406
Coenzyme Q10 Deficiency, Primary, 2
Obesity OMIM:614651
13Q12.3 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity ORPHA:412035
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Abnormality of the pancreatic islet cells... ORPHA:97279
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... ORPHA:189439
X-Linked Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion du... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion du... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Gait disturbance, Achilles tendon contracture, Lipodystrophy, Decreased cervical spine flexion du... ORPHA:98853
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Inguinal hernia OMIM:300209
Hyperinsulinism Due To Ucp2 Deficiency
Excessive insulin response to glucagon test, Hyperinsulinemic hypoglycemia, Large for gestational... ORPHA:276556
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Congenital Analbuminemia
Hyperlipidemia, Small for gestational age, Lipodystrophy, Hypercholesterolemia, Obesity ORPHA:86816
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Transient neonatal diabetes m... ORPHA:552
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus, Hypertriglyceridemia OMIM:618620
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hypogonadism, Enamel hypoplasia, Pseudohypoparath... OMIM:103580
Microtriplication 11Q24.1
Obesity, Hyperlipidemia ORPHA:289522
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Laron Syndrome
Hypercholesterolemia, Abnormality of the endocrine system, Delayed puberty, Truncal obesity ORPHA:633
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 level, I... ORPHA:94086
Wagr Syndrome
Obesity ORPHA:893
Senior-Loken Syndrome 9
Hypogonadism, Obesity OMIM:616629
Abcd Syndrome
Large for gestational age OMIM:600501
Urban-Rogers-Meyer Syndrome
Hypogonadism, Obesity, Flexion contracture of toe, Camptodactyly of finger ORPHA:3409
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601165
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Dysmetria, Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Unsteady gait, Fle... ORPHA:3041
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Insulin-Like Growth Factor I, Resistance To
Increased serum insulin-like growth factor 1, Lipodystrophy, Reduced subcutaneous adipose tissue,... OMIM:270450
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Failure to thrive, Truncal obesity, Hypogonadism, Hyperactivity, Atten... ORPHA:73272
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Umbilical hernia, Trun... ORPHA:284180
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating follicle stimulating hormone level, Failure to thrive, Absence of secondary ... ORPHA:90796
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Hyperactivity, Abdominal obesity, Gait ataxia, Delayed puberty OMIM:300354
Joubert Syndrome 32
Ataxia, Large for gestational age, Tall stature OMIM:617757
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Abnormality of body weight, Type II diabetes mellitus, Abnorm... ORPHA:2298
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Distal 16P11.2 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:261222
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Obesity OMIM:600430
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Obesity, Umbilical hernia ORPHA:171839
Bardet-Biedl Syndrome 9
Obesity, Truncal obesity OMIM:615986
Atkin-Flaitz Syndrome
Obesity, Tall stature OMIM:300431
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
X-Linked Non-Syndromic Intellectual Disability
Obesity, Attention deficit hyperactivity disorder, Small for gestational age ORPHA:777
Intellectual Developmental Disorder, X-Linked 12
Gait disturbance, Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemic hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hype... ORPHA:263455
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Inc... ORPHA:280365
Megalencephaly
Truncal obesity ORPHA:2477
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Pseudohypoparathyroidism, Obesity, Abnormality of the endocrine system ORPHA:464288
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Obesity, Ataxia, Tall stature OMIM:618430
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Obesity, Pseudohypoparathyroidism OMIM:617157
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Arthrogryposis multiplex congenita, Hyperactivity, Hypothyroidism, Obesity, Preco... ORPHA:254346
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Disproportionate tall stature, Increased circulating progesterone, Adrenal hyperplasia, Elevated ... ORPHA:95699
15Q24 Microdeletion Syndrome
Small for gestational age, Failure to thrive, Congenital diaphragmatic hernia, Hernia, Obesity, D... ORPHA:94065
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity, Abnormal dental enamel morphology ORPHA:2180
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Premature adrenar... ORPHA:398079
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Large for gestational age, Ele... ORPHA:226313
Macrocephaly/Autism Syndrome
Obesity OMIM:605309
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Obesity, Decreased response to growth hormone stimulation test OMIM:615873
Smith-Magenis Syndrome
Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Incr... OMIM:182290
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity, Streak ovary OMIM:194072
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Disproportionate tall stature, Attention deficit hyperactivity disorder, Abdominal obesity, Campt... OMIM:301039
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Hypogonadism, Hyperactivity, Camptodactyly of finger, Broad-based gait, Obesity, Inguin... ORPHA:85293
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Shox-Related Short Stature
Obesity ORPHA:314795
Carpenter Syndrome
Obesity, Umbilical hernia ORPHA:65759
Lipodystrophy, Congenital Generalized, Type 1
Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissu... OMIM:608594
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Achilles tendon contracture OMIM:615418
Smith-Magenis Syndrome
Gait disturbance, Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceridemia, Hypot... ORPHA:819
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
Müllerian Aplasia And Hyperandrogenism
Obesity, Increased serum testosterone level ORPHA:247768
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Obesity, Diabetes mellitus, Overweight ORPHA:69663
Angelman Syndrome Due To A Point Mutation
Ataxia, Obesity, Gait imbalance, Broad-based gait ORPHA:411511
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Neoplasm of the thyroid gland, Hyperthyroidism, Abnormal calcium-phosphate regulating hor... ORPHA:457059
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:98754
Lipodystrophy, Congenital Generalized, Type 2
Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose tissu... OMIM:269700
Cornelia De Lange Syndrome 5
Hypogonadism, Truncal obesity OMIM:300882
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Overgrowth, Small for gestational age, Large for gestational age, Umbilical hernia ORPHA:254534
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:177904
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Diabetes mellitus, Hypothyroidism, Obesity ORPHA:412
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:177901
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Obesity OMIM:600122
Joubert Syndrome 8
Obesity, Ataxia OMIM:612291
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Failure to thrive, Congenital diaphragmatic hernia, Obesity, Attention deficit hyperact... ORPHA:261197
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:98794
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Obesity, Increased circulating ACTH level, Abdominal obesity OMIM:219090
Pde4D Haploinsufficiency Syndrome
Elevated circulating parathyroid hormone level, Obesity, Abnormal dental enamel morphology ORPHA:439822
Radio-Tartaglia Syndrome
Gait imbalance, Ataxia, Obesity, Attention deficit hyperactivity disorder, Precocious puberty OMIM:619312
Chromosome 16P13.3 Deletion Syndrome, Proximal
Failure to thrive, Obesity OMIM:610543
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Failure to thrive, Obesity, Umbilical hernia OMIM:612938
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Obesity, Precocious puberty, Ataxia ORPHA:163681
Bardet-Biedl Syndrome 1
Gait imbalance, Truncal obesity, Hypogonadism, Ataxia, Abdominal obesity, Nephrogenic diabetes in... OMIM:209900
Apparent Mineralocorticoid Excess
Failure to thrive, Decreased circulating aldosterone level, Abnormality of circulating cortisol l... ORPHA:320
Down Syndrome
Gait disturbance, Type II diabetes mellitus, Hypothyroidism, Obesity, Umbilical hernia ORPHA:870
Angelman Syndrome
Hyperactivity, Obesity, Progressive gait ataxia, Broad-based gait OMIM:105830
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Obesity, Hypertriglyceridemia ORPHA:209902
Tatton-Brown-Rahman Syndrome
Proportionate tall stature, Neuroendocrine neoplasm, Umbilical hernia, Obesity ORPHA:404443
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:398073
Ring Chromosome Y Syndrome
Obesity, Male hypogonadism, Streak ovary ORPHA:261529
Short Stature, Microcephaly, And Endocrine Dysfunction
Gait disturbance, Dysmetria, Truncal obesity, Ataxia, Dysdiadochokinesis, Diabetes mellitus, Hypo... OMIM:616541
Sheehan Syndrome
Central adrenal insufficiency, Hashimoto thyroiditis, Abnormal size of pituitary gland, Decreased... ORPHA:91355
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Inability to walk, Unsteady gait, Obesity, Elbow flexion contracture OMIM:618493
Adiposis Dolorosa
Obesity, Hypothyroidism ORPHA:36397
Kallmann Syndrome
Gait disturbance, Hypogonadotropic hypogonadism, Ataxia, Hypothalamic gonadotropin-releasing horm... ORPHA:478
Kennerknecht Syndrome
Omphalocele, Abdominal obesity OMIM:600908
Prader-Willi Syndrome
Failure to thrive in infancy, Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic ... OMIM:176270
48,Xxxy Syndrome
Type II diabetes mellitus, Tall stature, Abnormal dental enamel morphology, Hypogonadism, Obesity... ORPHA:96263
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Decreased response to growth hormone stimulation test, Overweight ORPHA:457240
Joubert Syndrome 37
Obesity OMIM:619185
Metaphyseal Chondrodysplasia, Schmid Type
Obesity, Waddling gait ORPHA:174
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Obesity ORPHA:34527
Bardet-Biedl Syndrome
Hypogonadism, Obesity, Hypoplasia of the ovary ORPHA:110
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Obesity OMIM:615630
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Anterior p... ORPHA:3157
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Umbilical hernia, Obesity ORPHA:1001
Man1B1-Cdg
Broad-based gait, Truncal obesity ORPHA:397941
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Increased circulating free fatty acid level, Overweight, Obesity, Leth... ORPHA:26793
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Congenital diaphragmatic hernia, Weight loss, Obesity ORPHA:251071
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Spastic gait, Tip-toe gait OMIM:617296
Alstrom Syndrome
Diabetes insipidus, Insulin-resistant diabetes mellitus, Multinodular goiter, Truncal obesity, Hy... OMIM:203800
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypothalamic hypothyroidism, Decr... ORPHA:2495
Momo Syndrome
Obesity, Overgrowth, Large for gestational age, Tall stature ORPHA:2563
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Abnormal dental enamel morphology, Delayed puberty ORPHA:251004
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Tall stature, Eunuchoid habitus, Hypergonadotropic hyp... ORPHA:91
Desbuquois Dysplasia 1
Obesity, Waddling gait OMIM:251450
Magel2-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Absence of pubert... ORPHA:398069
Luscan-Lumish Syndrome
Obesity, Overgrowth OMIM:616831
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Failure to thrive, Premature adrenarche, D... ORPHA:739
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Hyperact... ORPHA:280651
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Premature adrenarche, Obesity, Precocious puberty ORPHA:813
Pseudohypoparathyroidism Type 1C
Elevated circulating parathyroid hormone level, Laryngeal dystonia, Enamel hypoplasia, Pseudohypo... ORPHA:79444
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... ORPHA:54595
Autosomal Recessive Spastic Paraplegia Type 11
Gait disturbance, Ataxia, Inability to walk, Overweight, Obesity ORPHA:2822
Angelman Syndrome
Precocious puberty in females, Hyperactivity, Inability to walk, Ataxia, Broad-based gait, Obesit... ORPHA:72
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Cohen Syndrome
Decreased response to growth hormone stimulation test, Childhood-onset truncal obesity, Small for... OMIM:216550
Carpenter Syndrome 1
Omphalocele, Joint contracture of the hand, Camptodactyly, Obesity, Precocious puberty, Umbilical... OMIM:201000
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus, Overweight ORPHA:401923
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Ataxia, Enamel hypoplasia, Inability to walk, Overweight, Obesity, Decre... OMIM:619229
Borjeson-Forssman-Lehmann Syndrome
Hypogonadism, Camptodactyly of toe, Truncal obesity ORPHA:127
Xq21 Microdeletion Syndrome
Pituitary hypothyroidism, Ataxia, Dysdiadochokinesis, Anterior hypopituitarism, Obesity, Decrease... ORPHA:1435
Wilson Disease
Failure to thrive, Weight loss, Difficulty walking, Increased body weight ORPHA:905
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Dentinogenesis imperfecta, Type I diabetes mellitus, Precocious puberty OMIM:619269
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypo... ORPHA:226307
Kleefstra Syndrome Due To 9Q34 Microdeletion
Failure to thrive, Obesity, Inguinal hernia, Femoral hernia ORPHA:96147
Momo Syndrome
Obesity, Overgrowth OMIM:157980
Peripartum Cardiomyopathy
Obesity, Abnormality of thyroid physiology, Diabetes mellitus ORPHA:563
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Large for gestational age OMIM:616026
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Laryngeal dystonia, Enamel hypoplasia, Pseudohypo... ORPHA:79443
Cushing Disease
Adrenal hyperplasia, Increased urinary cortisol level, Dorsocervical fat pad, Increased circulati... ORPHA:96253
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Ventral hernia, Obesity, Inguinal hernia ORPHA:468678
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Lipoatrophy, Decreased serum leptin, Flexion contracture OMIM:614008
Chops Syndrome
Obesity OMIM:616368
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Gaisböck Syndrome
Increased circulating renin level, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia,... ORPHA:90041
3Q29 Microduplication Syndrome
Obesity, Camptodactyly of toe ORPHA:251038
Ulnar-Mammary Syndrome
Hernia of the abdominal wall, Obesity, Delayed puberty, Camptodactyly of finger ORPHA:3138
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Obesity, Male hypogonadism OMIM:619471
Atypical Werner Syndrome
Chondrocalcinosis, Type II diabetes mellitus, Abnormality of circulating leptin level, Failure to... ORPHA:79474
Achondroplasia
Obesity ORPHA:15
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Umbilical hernia, Large for gestational age OMIM:614520
Distal Monosomy 12Q
Failure to thrive in infancy, Maturity-onset diabetes of the young, Obesity, Pituitary adenoma, H... ORPHA:96149
Digeorge Syndrome
Parathyroid agenesis, Inguinal hernia, Decreased circulating parathyroid hormone level, Parathyro... OMIM:188400
Kleefstra Syndrome 1
Obesity OMIM:610253
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Attention deficit hyperactivity disorder, Precocious puberty, Truncal obesity ORPHA:2637
7Q11.23 Microduplication Syndrome
Dysmetria, Congenital diaphragmatic hernia, Hyperactivity, Unsteady gait, Obesity, Inguinal hernia ORPHA:96121
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Neoplasm of t... ORPHA:99889
Kleefstra Syndrome
Obesity, Hernia ORPHA:261494
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Obesity OMIM:141750
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Weight loss, Thyrotoxicosis with toxic multinodu... ORPHA:79102
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Type II diabetes mellitus, Truncal obesity, Precocious puberty OMIM:210720
Monosomy 13Q34
Obesity ORPHA:96168
Cohen Syndrome
Obesity, Failure to thrive in infancy, Delayed puberty ORPHA:193
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity, Broad-based gait, Abnormality of the pineal gland ORPHA:369950
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia ORPHA:369837
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia, Delayed puberty, Increased body we... ORPHA:264580
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... ORPHA:177907
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Obesity, Attention deficit hyperactivity disorder, Truncal obesity ORPHA:466950
Xylt1-Cdg
Truncal obesity ORPHA:370930
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Precocious puberty, Umbilical hernia OMIM:301066
White-Kernohan Syndrome
Obesity, Attention deficit hyperactivity disorder, Hypothyroidism OMIM:619426
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Difficulty walking, Inguinal hernia OMIM:618653
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Hyperlipidemia, Premature adrenarche, Abnormality of the hypothalamus-pit... ORPHA:293987
Witteveen-Kolk Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Attention deficit hyperactivity disor... OMIM:613406
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight ORPHA:79240
Bloom Syndrome
Abdominal obesity, Adipose tissue loss, Small for gestational age, Diabetes mellitus ORPHA:125
Kabuki Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Precocious puberty, Obesity ORPHA:2322
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Attention deficit hyperactivity disorder ORPHA:466943
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Obesity OMIM:250420
Carney Complex
Thyroid carcinoma, Euthyroid multinodular goiter, Increased serum insulin-like growth factor 1, T... ORPHA:1359
Ulnar-Mammary Syndrome
Delayed puberty, Anterior pituitary hypoplasia, Obesity, Ectopic posterior pituitary, Inguinal he... OMIM:181450
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Dystonia, Failure to thrive, Torticollis, Falls, Attention deficit hyperactivity disorder, Hypera... OMIM:619475
Joubert Syndrome 39
Joint contracture of the 5th finger, Overweight OMIM:619562
Beckwith-Wiedemann Syndrome
Omphalocele, Adrenocortical carcinoma, Adrenocortical cytomegaly, Umbilical hernia, Tall stature,... ORPHA:116
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity, Dysmetria, Gait ataxia ORPHA:75857
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, High urinary go... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, High urinary go... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, High urinary go... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Type II diabetes mellitus, Hyperlipidemia, Obesity, High urinary go... ORPHA:99226
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Failure to thrive, Hypoplasia of the thymus, Abnormal dental enamel morpholog... ORPHA:567
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Increased circulating gonadotropin level, Hypothyroidism, Obesity, Delayed puberty,... ORPHA:1772
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Adnp Syndrome
Attention deficit hyperactivity disorder, Umbilical hernia, Truncal obesity, Inguinal hernia ORPHA:404448
Myhre Syndrome
Obesity, Ataxia, Small for gestational age, Camptodactyly OMIM:139210
Hutchinson-Gilford Progeria Syndrome
Weight loss, Absence of subcutaneous fat, Shuffling gait, Severe failure to thrive, Decreased ser... ORPHA:740
Perlman Syndrome
Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Large for gestational age OMIM:267000
Monosomy 22Q13.3
Hyperactivity, Obesity, Umbilical hernia ORPHA:48652
17Q24.2 Microdeletion Syndrome
Pineal cyst, Failure to thrive in infancy, Truncal obesity ORPHA:529962
Partial Deletion Of The Short Arm Of Chromosome 7
Obesity, Flexion contracture of thumb ORPHA:261911
1P36 Deletion Syndrome
Gait disturbance, Failure to thrive, Hypogonadism, Hypothyroidism, Camptodactyly of finger, Obesity ORPHA:1606
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
African Trypanosomiasis
Abnormal prolactin level, Gait disturbance, Abnormality of renin-angiotensin system, Weight loss,... ORPHA:3385
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Obesity, Decreased response to growth hormone stimulation test, Hypothyroidism ORPHA:444077
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hypoplasia of the ovary, Flexion contracture OMIM:619321
Williams-Beuren Syndrome
Failure to thrive in infancy, Gait imbalance, Early onset of sexual maturation, Inguinal hernia, ... OMIM:194050
Williams Syndrome
Gait disturbance, Failure to thrive in infancy, Type II diabetes mellitus, Gait imbalance, Dysmet... ORPHA:904
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Failure to thrive, Obesity, Keloids, Hyperactivity ORPHA:353281
Lysinuric Protein Intolerance
Failure to thrive, Truncal obesity OMIM:222700
Chronic Thromboembolic Pulmonary Hypertension
Obesity ORPHA:70591
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Hypogonadism, Obesity, Hyperactivity OMIM:309580
Carpenter Syndrome 2
Obesity, Umbilical hernia, Camptodactyly OMIM:614976
Hellp Syndrome
Increased body weight ORPHA:244242
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Keloids, Corneal scarring, Failure to thrive, Hyperactivity, Obesity ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Keloids, Corneal scarring, Failure to thrive, Hyperactivity, Obesity ORPHA:353284
Rubinstein-Taybi Syndrome 1
Keloids, Failure to thrive, Truncal obesity, Hyperactivity, Enamel hypoplasia, Premature thelarch... OMIM:180849
Cornelia De Lange Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Truncal obesity, Attention deficit hyperactiv... ORPHA:199
Chromosome 1P36 Deletion Syndrome, Distal
Congenital hypothyroidism, Hypothyroidism, Camptodactyly of finger, Obesity, Camptodactyly OMIM:607872
Primrose Syndrome
Congenital hypothyroidism, Hip contracture, Truncal obesity, Knee flexion contracture, Diabetes m... OMIM:259050
Alström Syndrome
Precocious puberty in females, Type II diabetes mellitus, Hyperlipidemia, Dorsocervical fat pad, ... ORPHA:64
Pallister-Killian Syndrome
Omphalocele, Camptodactyly of 2nd-5th fingers, Congenital diaphragmatic hernia, Inguinal hernia, ... 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

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MGI Allele Allele Type Produced
Selenomtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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