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Gene: Oprm1 MGI:97441

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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:
opioid receptor, mu 1
Synonyms:
MOP-R,  MOP receptor,  Oprm,  mor,  muOR,  MOR-1

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 Oprm1 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 Oprm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large fo... OMIM:256450
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestati... OMIM:601820
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Progressive neurol... ORPHA:276608
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Central adrenal insufficiency, Failure to thrive, Decreased response to... ORPHA:71526
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Obesity, Childhood-onset t... ORPHA:71529
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Obesity Due To Sim1 Deficiency
Glucose intolerance, Cognitive impairment, Obesity, Attention deficit hyperactivity disorder, Hyp... ORPHA:369873
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Small for gestat... ORPHA:324575
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Lipoatroph... ORPHA:79084
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatic fibrosis, Insulin-resistant diabetes mellit... ORPHA:280356
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Immunodeficiency 8
Hyperactivity OMIM:615401
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Progressive psychomotor deterioration, Insulin resistance, Cognitive impairment, Re... ORPHA:363400
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Increased ... ORPHA:97279
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, EEG with generalized epileptiform discharges, Fasting hyperinsulin... ORPHA:35878
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... ORPHA:276556
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Neonatal hypoglycemia OMIM:240900
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hypoglycemia, Leucine-Induced
Ataxia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Attention deficit hyperactivity disor... ORPHA:3000
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia, Tall stature OMIM:618406
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes melli... OMIM:604367
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Atypical scarring of skin, O... ORPHA:791
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Delayed thelarche, Delayed puberty OMIM:616033
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Obesity, ... ORPHA:3085
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Ataxia, Abnormal testis morphology, Abn... ORPHA:1227
Perlman Syndrome
Hepatomegaly, Tall stature, Hyperinsulinemia, Abnormal pancreas morphology, Cryptorchidism, Ingui... ORPHA:2849
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity, Insulin resistance ORPHA:140941
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Maturity-onse... ORPHA:99886
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity, Cognitive impairment OMIM:615989
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Insulin resistance, Failure to thrive, Lipodystrophy... ORPHA:528
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia OMIM:615703
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Hepatic steatosis, Abdominal obesity, Diabetes mellitus OMIM:615980
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Insu... OMIM:151660
Galactokinase Deficiency
Hepatomegaly, Hypoglycemia, Small for gestational age, Failure to thrive, Hepatosplenomegaly, Pre... ORPHA:79237
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitu... OMIM:262190
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Adipose tissue loss, Precocious puberty, P... OMIM:246200
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Bardet-Biedl Syndrome 6
Obesity, Diabetes mellitus OMIM:605231
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Cognitive impairment OMIM:615987
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Ataxia, Truncal ataxia, Abnormal ... ORPHA:320391
Pancreatic Agenesis 1
Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Exocrine pancreatic insufficiency, N... OMIM:260370
Hyperostosis Frontalis Interna
Obesity, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
47,Xyy Syndrome
Oligospermia, Hypospadias, Macroorchidism, Azoospermia, Attention deficit hyperactivity disorder,... ORPHA:8
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity, Cognitive impairment OMIM:615983
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Glucose intolerance, Absence of pubertal development, Absence of second... ORPHA:785
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Narcolepsy Type 1
Obesity, Transient global amnesia ORPHA:2073
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:2457
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Bardet-Biedl Syndrome 18
Obesity, Cognitive impairment OMIM:615995
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche, Insulin resistance OMIM:614662
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Congenital hypothyroidism, Increased body mass index, Increased T3/T4 ratio, Broad-b... OMIM:614450
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Imbalanced hemoglobin synthesis, Infertility, Abnormal T... ORPHA:330015
X-Linked Acrogigantism
Enlarged pituitary gland, Adrenocorticotropic hormone deficiency, Diabetes insipidus, Increased s... ORPHA:300373
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Insulin-resis... OMIM:608612
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism ORPHA:85274
Hernández-Aguirre Negrete Syndrome
Obesity, EEG abnormality, Delayed puberty ORPHA:2139
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... ORPHA:399805
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Decreased response to growth hormone stimulation test, Gonadotropin defici... OMIM:609734
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Cirrhosis OMIM:602579
Mehmo Syndrome
Hypoglycemia, Small for gestational age, Inability to walk, Male hypogonadism, Difficulty walking... OMIM:300148
Acquired Generalized Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis, Polycystic o... ORPHA:79086
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Mehmo Syndrome
Obesity, Cryptorchidism, EEG abnormality, Diabetes mellitus ORPHA:85282
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Contractures involving the joints of the feet, Hepatomegaly, Decreased motor nerve conduction vel... ORPHA:456312
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean corp... OMIM:615234
Juvenile Huntington Disease
Dystonia, Dementia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-bas... ORPHA:248111
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity, Cognitive impairment OMIM:619058
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Overgrowth, Omphalocele, Hepatomegaly, Cardi... OMIM:130650
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic... OMIM:608594
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism,... ORPHA:79319
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes ORPHA:3055
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Reduced sperm motility OMIM:602271
Central Precocious Puberty
Overgrowth, Increased circulating gonadotropin level, Isosexual precocious puberty, Premature the... ORPHA:759
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Loss of subcutaneous adipose tissue in limbs, Insulin-resistant ... OMIM:248370
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Tall stature, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic... OMIM:269700
Immunodeficiency 61
Obesity, Attention deficit hyperactivity disorder OMIM:300310
Spinocerebellar Ataxia 32
Testicular atrophy, Ataxia, Infertility, Azoospermia OMIM:613909
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity, Cognitive impairment OMIM:615993
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Flexion contrac... OMIM:616222
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hyperglycemia, Increased circ... OMIM:615954
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Dorsocervica... OMIM:615830
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Increased circu... ORPHA:189439
Hemochromatosis, Type 2A
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, Lethargy OMIM:602390
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia ORPHA:276183
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Insulin resistance, Failure to thrive, Lipodystrophy, Splenomegaly, Hepatic steatos... OMIM:613327
Microduplication Xp11.22P11.23 Syndrome
Obesity, Precocious puberty, EEG with centrotemporal focal spike waves ORPHA:217377
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... OMIM:300888
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia, Large for gestational age, Visceromegaly OMIM:601165
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... OMIM:203800
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Dystonia, Hypoglycemia, Type II diabetes mellitus, Hypogonadotropic hypog... ORPHA:453533
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity, Cryptorchidism, Decreased testicular size OMIM:610628
Myotonic Dystrophy 2
Oligospermia, Decreased circulating IgG level, Hypogonadism, Decreased circulating total IgM OMIM:602668
Blue Diaper Syndrome
Decreased circulating T4 level, Recurrent hypoglycemia, Elevated circulating thyroid-stimulating ... ORPHA:94086
Laurence-Moon Syndrome
Type II diabetes mellitus, Congenital hepatic fibrosis, Ataxia, Obesity, Cryptorchidism ORPHA:2377
Leptin Receptor Deficiency
Pituitary hypothyroidism, Diabetes mellitus, Hypergonadotropic hypogonadism, Obesity, Decreased r... OMIM:614963
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatic necrosis, Neo... ORPHA:71212
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... ORPHA:1501
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Polysplenia, ... OMIM:613807
Temple Syndrome
Type II diabetes mellitus, Small for gestational age, Recurrent hypoglycemia, Cryptorchidism, Obe... ORPHA:254516
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased testicular size, Decreased serum leptin OMIM:614962
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Interictal epileptiform activity, EEG with generalized epileptiform discharges, EEG... ORPHA:163681
Prader-Willi Syndrome
Adrenal insufficiency, Failure to thrive in infancy, Type II diabetes mellitus, Hypogonadotropic ... OMIM:176270
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism, Torticollis OMIM:314300
Pseudopseudohypoparathyroidism
Obesity, Enamel hypoplasia, Pseudohypoparathyroidism, Cognitive impairment OMIM:612463
Hepatic Veno-Occlusive Disease
Hepatomegaly, Increased body weight, Jaundice ORPHA:890
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Overweight, Diabetes mellitus, Flexion contracture, Hypothyroidism, EEG abnorm... ORPHA:391372
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased ... ORPHA:99832
Early-Onset Schizophrenia
Unhappy demeanor, Suicidal ideation, Irritability, Anhedonia, Emotional lability, Diminished moti... ORPHA:96369
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Cholecystitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, ... ORPHA:69663
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Obesity, Large for gestational age OMIM:248100
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, EEG abnormality, Broad-based gait, Obesity ORPHA:411515
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Focal EEG discharges with secondary generalization, Shuffling gait, Hyperactivity... ORPHA:3077
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Hyperactivity, Diabetes mellitus, Obesity, Cryptorchidism OMIM:614613
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Reduced subcutaneous adipo... OMIM:609069
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Cognitive impairment, Ataxia, Obesity ORPHA:459033
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Dystonia, Macroorchidism, Spastic gait, Shuffling gait, Bradykinesia, EEG with generalized slow a... OMIM:300055
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity, Diabetes mellitus OMIM:615981
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... ORPHA:769
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism ORPHA:88643
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Functioning Gonadotropic Adenoma
Oligospermia, Infertility, Macroorchidism, postpubertal, Amenorrhea, Abnormality of the menstrual... ORPHA:91348
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Obesity, Premature ovarian insufficiency OMIM:618124
Morgagni-Stewart-Morel Syndrome
Cognitive impairment, Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abn... ORPHA:77296
Halothane Hepatitis
Viral hepatitis, Obesity, Hepatitis, Jaundice OMIM:234350
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Cognitive impairment OMIM:615985
Woodhouse-Sakati Syndrome
Dystonia, Streak ovary, Insulin-resistant diabetes mellitus, Decreased serum estradiol, Hypogonad... ORPHA:3464
Perrault Syndrome 4
Disproportionate tall stature, Cognitive impairment, Hypoplasia of the ovary, Decreased serum est... OMIM:615300
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
48,Xxyy Syndrome
Type II diabetes mellitus, Tall stature, Abnormal dental enamel morphology, Ataxia, Cryptorchidis... ORPHA:10
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, Cryptorchidism OMIM:615982
Adrenal Hypoplasia, Congenital
Oligospermia, Azoospermia, Hypogonadotropic hypogonadism, Cryptorchidism, Precocious puberty OMIM:300200
Leprechaunism
Central hypothyroidism, Hepatomegaly, Fasting hypoglycemia, Insulin resistance, Failure to thrive... ORPHA:508
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Poor eye contact ORPHA:444002
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity, Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the p... ORPHA:2470
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity OMIM:615996
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Cognitive impairment, Hypogonadism, Enamel hypopl... OMIM:612462
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism OMIM:603233
Subaortic Stenosis-Short Stature Syndrome
Obesity, Biliary tract abnormality, Type II diabetes mellitus, Inguinal hernia ORPHA:3191
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder OMIM:618725
Body Mass Index Quantitative Trait Locus 19
Obesity, Insulin resistance OMIM:617885
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Type II diabetes mellitus, Eunuchoid habitus, Hypogonadism, Abnormality of the thyroid gland, Obe... ORPHA:2234
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Glucose intolerance, Impaired glucose tolerance, Splenomegaly, Ch... OMIM:615630
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:141333
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Large for gestational age, Ele... ORPHA:226313
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Wilson Disease
Hepatomegaly, Failure to thrive, Weight loss, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis... ORPHA:905
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:614935
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus OMIM:616026
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Cognitive impairment, Hypogonadism, Enamel hypopl... OMIM:103580
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Hyperglycemia, Contractures of the joints of the lower limbs, Failure to t... ORPHA:99885
Abcd Syndrome
Abnormal auditory evoked potentials, Large for gestational age OMIM:600501
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Anemia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Hepat... ORPHA:85450
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Pancreatic Agenesis 2
Pancreatic hypoplasia, Small for gestational age OMIM:615935
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Obesity, Crypto... ORPHA:96184
Smith-Magenis Syndrome
Hyperactivity, Increased body weight, EEG abnormality, Abnormality of the thyroid gland OMIM:182290
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Small for gestational age, Goiter, Hyperactivity, Hyperthyroidism OMIM:609152
Cortisone Reductase Deficiency 1
Obesity, Precocious puberty OMIM:604931
Idiopathic Neonatal Atrial Flutter
Maternal diabetes, Large for gestational age ORPHA:45452
Magel2-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Xerostomia, Absen... ORPHA:398069
13Q12.3 Microdeletion Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Hyperactivity, Camptodactyly, Obesity, Crypto... ORPHA:412035
Gapo Syndrome
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Narcolepsy 7
Obesity, Type II diabetes mellitus OMIM:614250
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Congenital hypothyroidism, Hepatic fibrosis, Splenic cyst, P... OMIM:610199
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, Cryptorchidism, Akinesia OMIM:618822
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Small for gestational age, Weight loss, Hyperactivity, Hyperthyroidi... ORPHA:424
Atypical Werner Syndrome
Ovarian neoplasm, Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin... ORPHA:79474
Proprotein Convertase 1/3 Deficiency
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level OMIM:600955
Bloom Syndrome
Oligospermia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Azoosper... ORPHA:125
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Oligomenorrhea, Hypogonadism, Amenorrhea ORPHA:91351
Polycystic Ovary Syndrome 1
Obesity, Enlarged polycystic ovaries OMIM:184700
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Obesity OMIM:301013
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Cognitive impairment, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis ... ORPHA:457059
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... OMIM:615710
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Hypogonadism, Hyperactivity, EEG abnormality, Broad-based gait, Camptodactyly of finger... ORPHA:85293
Sim1-Related Prader-Willi-Like Syndrome
Lethargy, Central hypothyroidism, Type II diabetes mellitus, Failure to thrive, Premature adrenar... ORPHA:398079
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Failure to t... ORPHA:264580
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Gait imbalance, Hepatic fibrosis, Insulin resistance, Truncal obesity, ... OMIM:209900
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Thyroid hypoplasia, Decreased circulating follicle stimulating hormone concentratio... ORPHA:226307
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Gait disturbance, Insulin resistance, Cognit... ORPHA:273
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Absence of secondary sex char... ORPHA:2235
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hyperinsulinemia, Insulin resistance ORPHA:230
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Yellow Fever
Jaundice, Acute pancreatitis, Pancreatic hyperplasia ORPHA:99829
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Weight loss, Hyperactivity, Hyperthyroidism, Activating thyroid-stim... ORPHA:99819
Solitary Fibrous Tumor/Hemangiopericytoma
Hypoglycemia, Weight loss, Abnormality of the peritoneum, Neoplasm of the liver, Recurrent hypogl... ORPHA:2126
Bardet-Biedl Syndrome 9
Hyperglycemia, Obesity, Truncal obesity OMIM:615986
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Hepatic fibrosis, Hepatocellular carcinoma, Polycystic ovarie... ORPHA:79240
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Obesity, Cryptorchidism ORPHA:363741
Senior-Loken Syndrome 9
Hypogonadism, Obesity, Hepatic fibrosis, Cholestasis OMIM:616629
Turner Syndrome Due To Structural X Chromosome Anomalies
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... ORPHA:99413
Turner Syndrome
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... ORPHA:881
Mosaic Monosomy X
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... ORPHA:99228
Monosomy X
Abnormality of the ovary, Failure to thrive in infancy, Type II diabetes mellitus, Hepatic fibros... ORPHA:99226
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility, Polysplenia OMIM:619608
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Waddling gait, Clitoral hypoplasia OMIM:614813
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Impaired glucose tolerance, Pituitary adenoma, Abdominal obesity, Obesity, I... OMIM:219090
Cushing Disease
Adrenal hyperplasia, Increased urinary cortisol level, Dementia, Increased circulating cortisol l... ORPHA:96253
Macrocephaly/Autism Syndrome
Obesity, Hepatomegaly, Splenomegaly OMIM:605309
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pseudohermaphroditism, Pre... ORPHA:786
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
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
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
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Dysbetalipoproteinemia
Hepatomegaly, Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity ORPHA:412
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Neoplasm of the thymus, Small intestine ... ORPHA:99889
Trigeminal Neuralgia
Episodic paroxysmal anxiety, Allodynia ORPHA:221091
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Tall stature, Insulin resistance, Eunuch... ORPHA:91
Sheehan Syndrome
Central adrenal insufficiency, Hypoglycemia, Abnormal size of pituitary gland, Decreased circulat... ORPHA:91355
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Small for gestational age, Failure to thri... ORPHA:398073
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital hypothyroidism, Pancreatic hypoplasia, Small for gestational age, Failure to thrive, C... ORPHA:2255
Meningioma
Hypothalamic hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Tr... ORPHA:2495
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Abnormality of the hypothalamus-pituitary axis, Anterior p... ORPHA:3157
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Overgrowth, Small for gestational age, Large for gestational age, Umbilical hernia ORPHA:254534
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Fused labia majora, Increased size of the clitoris, Abnormal external ... ORPHA:95699
Adiposis Dolorosa
Xerostomia, Obesity, Memory impairment, Hypothyroidism ORPHA:36397
Joubert Syndrome 8
Prolonged neonatal jaundice, Ataxia, Hepatomegaly, Obesity OMIM:612291
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Abnormal dental enamel morphology, Obesity, Anhidrosis, De... ORPHA:251004
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Small for gestational age, Jaundice, Overweight, Obesity,... ORPHA:26793
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Small for gestational age, Abse... ORPHA:556955
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Flexion contracture of toe, Hypergonadotropic hypogonadism, ... OMIM:602782
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Autosomal Recessive Spastic Paraplegia Type 11
Gait disturbance, Dementia, Ataxia, Inability to walk, Overweight, Mental deterioration, Obesity,... ORPHA:2822
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... ORPHA:54595
Kallmann Syndrome
Gait disturbance, Hypogonadotropic hypogonadism, Ataxia, Hypothalamic gonadotropin-releasing horm... ORPHA:478
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... OMIM:601346
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Congenital hypothyroidism, Hypogonadism, Hyperact... ORPHA:280651
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, EEG with occipital focal spikes, EEG with central focal spikes, Chole... OMIM:301066
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus ORPHA:261265
Distal Monosomy 12Q
Failure to thrive in infancy, Unilateral cryptorchidism, Annular pancreas, Maturity-onset diabete... ORPHA:96149
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Type II diabetes mellitus OMIM:618620
Alström Syndrome
Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentration, Primary ... ORPHA:64
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Hepatic steatosis, Choleste... ORPHA:209902
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Obesity, Cryptorchidism, Streak ovary OMIM:194072
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Glucose intolerance, Impaired glucos... OMIM:137920
Perlman Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Pancreatic islet-cell hyperplasia, Cr... OMIM:267000
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Carney Complex
Thyroid carcinoma, Sertoli cell neoplasm, Increased circulating cortisol level, Papillary thyroid... ORPHA:1359
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Hyperglycemia, Congenital diaphragmatic hernia, Failure to thrive, Aplasia... OMIM:600001
Histidinemia
Hyperactivity ORPHA:2157
Beckwith-Wiedemann Syndrome
Omphalocele, Hypoglycemia, Neonatal hypoglycemia, Splenomegaly, Umbilical hernia, Tall stature, C... ORPHA:116
Tenorio Syndrome
Gait disturbance, Hypoinsulinemia, Hypoglycemia OMIM:616260
Tetrasomy 9P
Oligospermia, Infertility, Pachygyria, Hyperactivity, Micropenis, Polymicrogyria, Cryptorchidism,... ORPHA:3310
Benign Schwannoma
Allodynia ORPHA:252164
Pmm2-Cdg
Hepatic fibrosis, Insulin resistance, Failure to thrive, Hypogonadotropic hypogonadism, Abnormal ... ORPHA:79318
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Congenital Analbuminemia
Obesity, Lipodystrophy, Small for gestational age ORPHA:86816
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity, Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta OMIM:619269
Shwachman-Diamond Syndrome
Hepatomegaly, Pancreatic hypoplasia, Failure to thrive, Diabetes mellitus, Hypopituitarism, Exocr... ORPHA:811
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with toxic single thyroid nodule, Weight loss, Thyrotoxicosis with toxic multinodu... ORPHA:79102
Digeorge Syndrome
Parathyroid agenesis, Inguinal hernia, Cholelithiasis, Decreased circulating parathyroid hormone ... OMIM:188400
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Bardet-Biedl Syndrome 20
Obesity, Bilateral cryptorchidism, Male hypogonadism, Pancreatitis OMIM:619471
Gaisböck Syndrome
Obesity, Overweight, Diabetes mellitus, Cholecystitis, Increased circulating renin level ORPHA:90041
Dextrocardia
Abnormality of abdominal situs, Abnormality of the spleen, Pancreatic hypoplasia ORPHA:1666
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Pancreatic hypoplasia, Failure to thrive, Cholelithiasis, Biliary hyperplasia, Cont... ORPHA:83617
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia, Peritonitis ORPHA:2968
Prader-Willi Syndrome Due To Translocation
Abnormal social behavior, Impaired social interactions ORPHA:177907
Hellp Syndrome
Increased body weight ORPHA:244242
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Abnormal social behavior ORPHA:363958
Mend Syndrome
Abnormal social behavior ORPHA:401973
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Williams Syndrome
Overfriendliness, Abnormal social behavior ORPHA:904

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 Oprm1

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 Oprm1.

No publications found that use IMPC mice or data for Oprm1.

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MGI Allele Allele Type Produced
Oprm1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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