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Gene: Or4m1 MGI:3030568

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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:
olfactory receptor family 4 subfamily M member 1
Synonyms:
Olfr734,  GA_x6K02T2PMLR-6013665-6012724,  MOR242-1

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 Or4m1 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 Or4m1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di... ORPHA:71529
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... OMIM:615703
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... OMIM:232700
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... ORPHA:314811
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... OMIM:612526
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Smal... ORPHA:79237
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... ORPHA:276575
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... ORPHA:453533
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... ORPHA:528
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... OMIM:617872
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ... ORPHA:276556
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic... OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Polyphagia, Decreased testicul... OMIM:614962
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... OMIM:608594
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... ORPHA:369873
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... ORPHA:280365
Obesity And Hypopigmentation
Hepatic steatosis, Polyphagia, Hyperinsulinemia, Obesity OMIM:620195
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... OMIM:269700
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... OMIM:614736
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... OMIM:301033
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carc... ORPHA:369
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris... OMIM:610883
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... OMIM:151660
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... OMIM:262700
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... ORPHA:2126
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ... ORPHA:3085
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder, Asympt... ORPHA:35878
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... OMIM:618156
Mehmo Syndrome
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... OMIM:300148
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia OMIM:610539
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... ORPHA:791
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... OMIM:246700
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... OMIM:306000
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... ORPHA:96180
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... OMIM:620357
2P21 Microdeletion Syndrome
Failure to thrive, Hypogonadism, Hypocalcemia, Hypoglycemia ORPHA:163693
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Dysphagia, Failure to ... OMIM:618958
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... OMIM:619048
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Small for gestational age,... OMIM:615160
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Pachyg... ORPHA:79324
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype... ORPHA:2849
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Male i... ORPHA:79239
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... OMIM:619386
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, In... OMIM:235200
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... ORPHA:6
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... OMIM:266510
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617950
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... ORPHA:264580
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, ... OMIM:212065
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Decreased liver function ORPHA:67048
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed puberty, Hypercholest... ORPHA:633
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... ORPHA:95496
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... OMIM:203800
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... ORPHA:94086
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... ORPHA:361
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... OMIM:246200
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... OMIM:248370
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... OMIM:613327
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo... ORPHA:73272
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... ORPHA:2394
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Atypical Werner Syndrome
Fasting hyperinsulinemia, Hyperglycemia, Hepatic steatosis, Premature ovarian insufficiency, Abno... ORPHA:79474
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffi... ORPHA:199299
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe... ORPHA:69663
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Decreased liver function, H... ORPHA:79319
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... ORPHA:90791
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating as... ORPHA:2088
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia ORPHA:35
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Hepatomegaly, Hypocholesterolemia OMIM:618810
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Adrenal insuff... OMIM:617575
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycem... OMIM:616113
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyper... OMIM:602579
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... ORPHA:90790
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure ORPHA:156
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Anorexia, Increa... ORPHA:85138
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Reduced sperm motility OMIM:602271
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Hypoglycemia, Hyperc... ORPHA:95409
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... OMIM:261680
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Anor... ORPHA:330015
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Silver-Russell Syndrome Due To A Point Mutation
Inguinal hernia, Small for gestational age, Dysmenorrhea, Hypoglycemia, Cryptorchidism, Attention... ORPHA:397590
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly OMIM:266150
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... OMIM:617049
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... ORPHA:199296
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia ORPHA:664
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:91355
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Abetalipoproteinemia
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato... ORPHA:14
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... OMIM:617253
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridem... ORPHA:412
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia ORPHA:5
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... OMIM:137920
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... OMIM:616026
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... OMIM:617093
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... OMIM:251880
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Failu... ORPHA:778
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:26793
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia OMIM:616483
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level OMIM:610768
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Hypergl... OMIM:307030
Hypoadrenocorticism, Familial
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency OMIM:240200
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... OMIM:219090
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm OMIM:613807
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia OMIM:210200
Ciliary Dyskinesia, Primary, 18
Male infertility, Abdominal situs ambiguus, Immotile sperm OMIM:614874
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... OMIM:615453
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hyponatr... ORPHA:90794
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... ORPHA:508
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral... ORPHA:134
Dubowitz Syndrome
Hyperactivity, Cryptorchidism, Inguinal hernia, Hypocholesterolemia OMIM:223370
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm OMIM:612650
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidem... OMIM:232200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive, Hepatocel... ORPHA:79259
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility OMIM:615500
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, H... OMIM:617053
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:606721
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Hyperactivity, Periventricular heterotopia, Precocious puberty, Splenomegaly, Crypt... OMIM:270400
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... OMIM:617156
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility OMIM:612649
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... OMIM:256810
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, D... ORPHA:90363
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca... OMIM:232220
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm OMIM:613808
Carney Complex
Pituitary growth hormone cell adenoma, Increased body weight, Thyroid carcinoma, Papillary thyroi... ORPHA:1359
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility OMIM:615444
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... ORPHA:273
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Perlman Syndrome
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Pancrea... OMIM:267000
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm OMIM:242670
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... OMIM:276700
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... OMIM:232240
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Turner Syndrome Due To Structural X Chromosome Anomalies
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovaria... ORPHA:99413
Turner Syndrome
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovaria... ORPHA:881
Mosaic Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovaria... ORPHA:99228
Monosomy X
Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovaria... ORPHA:99226
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin OMIM:614008
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Elevated circulating creatinine concentration, Pituit... ORPHA:730
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ... OMIM:229600
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Reduced progressive sperm motility OMIM:619608
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Liver Disease, Severe Congenital
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... OMIM:619991
Pmm2-Cdg
Elevated hepatic transaminase, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipody... ORPHA:79318

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 Or4m1

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 Or4m1.

No publications found that use IMPC mice or data for Or4m1.

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