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Gene: Bnip3 MGI:109326

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Gene Summary

Name:
BCL2/adenovirus E1B interacting protein 3
Synonyms:
Nip3

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Bnip3em1(IMPC)Mbp HOM   Early adult 2.29×10-05
impaired glucose tolerance Bnip3em1(IMPC)Mbp HOM Early adult 2.33×10-07
increased circulating insulin level Bnip3em1(IMPC)Mbp HOM Early adult 1.98×10-07
increased circulating cholesterol level Bnip3em1(IMPC)Mbp HOM Early adult 9.36×10-06
absent optic nerve Bnip3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Bnip3 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 Bnip3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy, Abnormal oral glucose tolerance OMIM:311100
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Abnormality of the autono... ORPHA:79299
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Microphthalmia/Coloboma 12
Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob... OMIM:120200
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of... OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Insulin resistance OMIM:617885
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Abnormal autonomic nervous system physiology, Postural hyp... ORPHA:369873
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hypogl... ORPHA:276575
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Wolfram-Like Syndrome
Optic atrophy, Delayed puberty, Central diabetes insipidus, Male hypogonadism, Peripheral axonal ... ORPHA:411590
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Neonatal insulin-dependent diabetes mellitus ORPHA:65288
Mody
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Retinopathy... ORPHA:552
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal ... ORPHA:280356
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Insulin resistance, Diabetes mellitus, Hypercholesterolemia OMIM:612526
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabet... ORPHA:436182
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperuricemia OMIM:306000
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Decreased number of peri... OMIM:607250
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycemia, Increased ... ORPHA:276556
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche OMIM:616033
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Abnormality of retinal pigmentation, Type II diabetes mellitus, Hypergonadotrop... ORPHA:3085
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Hyperinsulinemia, Attenuation of retinal ... ORPHA:791
Septooptic Dysplasia
Decreased response to growth hormone stimulation test, Optic disc hypoplasia, Diabetes insipidus,... OMIM:182230
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Microphthalmia, Syndromic 3
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Optic nerve ... OMIM:206900
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... OMIM:615363
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Galactokinase Deficiency
Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic h... ORPHA:79237
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality ... ORPHA:264200
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase ... OMIM:615181
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me... OMIM:615812
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Abnormality of the endocrine system, Hypothyroidism, Abnormality of the thyroid gl... ORPHA:77296
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increa... ORPHA:2298
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Aniridia ORPHA:1068
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Adrenal calcification, Hypercholesterolemia ORPHA:75234
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Decreased circulating car... ORPHA:71212
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opaci... OMIM:305390
Joubert Syndrome 40
Optic nerve hypoplasia OMIM:619582
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Insulin resistance, Increased circulating free fatty acid... ORPHA:2457
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hypoglycemia, Fast... ORPHA:263455
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Increased C-peptide level,... ORPHA:528
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Laron Syndrome
Delayed puberty, Hypoglycemia, Hypercholesterolemia, Abnormality of the endocrine system ORPHA:633
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia ORPHA:363400
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... OMIM:616828
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... OMIM:600955
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal nerve conduction velocity, Retinal detachment, Abnormality of the ... OMIM:182290
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia ORPHA:250972
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Axonal degeneration, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Decreas... OMIM:208920
Hyperlipoproteinemia, Type V
Decreased HDL cholesterol concentration, Increased circulating chylomicron concentration, Increas... OMIM:144650
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Enlarged periphe... OMIM:151660
Aniridia 1
Aniridia, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmentation, Increas... OMIM:106210
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr... ORPHA:785
Hyperlysinemia, Type I
Optic nerve hypoplasia, Hypoornithinemia, Hyperlysinemia OMIM:238700
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Optic nerve hypoplasia, Hypoglycemia, Hyperammonemia OMIM:620609
Cerebral Visual Impairment
Optic atrophy, Neonatal hypoglycemia, Optic nerve hypoplasia, Increased cup-to-disc ratio, Retino... ORPHA:447788
Chromosome 19P13.13 Deletion Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:613638
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... ORPHA:412
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Pituitary Stalk Interruption Syndrome
Delayed puberty, Diabetes insipidus, Adrenal hypoplasia, Septo-optic dysplasia, Abnormality of th... ORPHA:95496
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Hypocholesterolemia, ... OMIM:615558
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pulmonary carcinoid t... ORPHA:276152
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Lipemia retina... OMIM:238600
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:96184
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia OMIM:614306
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Squalene Synthase Deficiency
Optic nerve hypoplasia, Increased circulating farnesol concentration, Elevated circulating methyl... OMIM:618156
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia ORPHA:137634
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Hyponatremia, Retinal telangiectasia OMIM:620157
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia OMIM:618890
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Facial dipleg... OMIM:617302
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy, Delayed puberty ORPHA:496790
Rabson-Mendenhall Syndrome
Increased serum testosterone level, Fasting hypoglycemia, Hypokalemia, Impaired glucose tolerance... ORPHA:769
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Hyperlipidemia, Hyperglycemia, Glucose intolerance, Insulin-resistant diabetes ... OMIM:608612
Septo-Optic Dysplasia Spectrum
Maternal diabetes, Diabetes insipidus, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Sep... ORPHA:3157
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyperinsulinemia, De... OMIM:203800
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating c... ORPHA:370959
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:228384
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary OMIM:610125
Smith-Magenis Syndrome
Delayed puberty, Hypertriglyceridemia, Retinal detachment, Precocious puberty, Hypothyroidism, Hy... ORPHA:819
Donohue Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Pancreatic islet-cell ... OMIM:246200
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Orthostatic hypotension, Increas... ORPHA:230
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Optic nerve hypoplasia OMIM:620502
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hyperinsulinemia, Insulin resista... ORPHA:79086
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Optic disc hypoplasia ORPHA:401777
Bardet-Biedl Syndrome 20
Papilledema, Rod-cone dystrophy, Male hypogonadism, Hypercholesterolemia, Retinal vascular tortuo... OMIM:619471
D-Glyceric Aciduria
Optic nerve hypoplasia, Hypoglycemia, Elevated circulating D-glyceric concentration, Nonketotic h... OMIM:220120
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... ORPHA:247585
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia,... OMIM:277460
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Pituitary hypothyroidism, Incr... ORPHA:90674
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hyperlipidemia, Impaired glucose tolerance, Hyperglycemia, Hypercho... OMIM:248370
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... OMIM:278000
Neuhauser Syndrome
Retinal detachment, Hypercholesterolemia, Primary hypothyroidism, Hypoplasia of the iris OMIM:249310
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia OMIM:618736
Trichothiodystrophy 5, Nonphotosensitive
Optic nerve hypoplasia, Panhypopituitarism, Retinal dystrophy OMIM:300953
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia, Aganglionic megacolon ORPHA:85284
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea, Hypoalbuminemia OMIM:602579
Phace Association
Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Congenital hypothyroidism, Increased retin... OMIM:606519
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hypercholesterolemia, Hypothyroidism, Hyperglycemia ORPHA:90065
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Fasting hypoglycemia, Ketotic hypoglycemia, Elevated circulating creatine k... ORPHA:79240
Seckel Syndrome 10
Hypertriglyceridemia, Retinal detachment, Impaired glucose tolerance, Glycosuria, Diabetes mellit... OMIM:617253
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... ORPHA:226307
Lissencephaly Due To Tuba1A Mutation
Optic nerve hypoplasia, Aganglionic megacolon ORPHA:171680
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Hypercholesterolemia ORPHA:69663
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia OMIM:618828
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatine kinase ... OMIM:613327
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia OMIM:618381
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Hypoglycemia, Hypercholesterolemia OMIM:620454
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Prader-Willi Syndrome
Delayed puberty, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Hyperinsulinemia,... OMIM:620185
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Fasting hypoglycemia, Elevated circulating creatine kinase... ORPHA:264580
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulati... OMIM:614643
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test OMIM:615280
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Rabin-Pappas Syndrome
Retinal detachment, Optic nerve hypoplasia, Hyponatremia, Retinal telangiectasia OMIM:620155
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Fanconi Anemia, Complementation Group I
Hypothyroidism, Optic nerve hypoplasia, Microphthalmia, Decreased response to growth hormone stim... OMIM:609053
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia ORPHA:572013
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia, Hypoplasia of the iris ORPHA:2479
Rhizomelic Chondrodysplasia Punctata, Type 2
Optic nerve hypoplasia, Decreased circulating plasmalogen concentration OMIM:222765
Pancreatic And Cerebellar Agenesis
Optic nerve hypoplasia, Hypoglycemia, Diabetes mellitus, Hyperglycemia OMIM:609069
Tatton-Brown-Rahman Syndrome
Optic nerve hypoplasia OMIM:615879
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia ORPHA:363686
Verheij Syndrome
Optic nerve hypoplasia OMIM:615583
Spastic Paraplegia 54, Autosomal Recessive
Optic nerve hypoplasia OMIM:615033
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration OMIM:301056
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Diabete... ORPHA:90041
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... OMIM:210250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Ret... OMIM:236670
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Hypertriglyceridemia, Hyperinsulinemia, Fasting h... ORPHA:79474
Combined Pituitary Hormone Deficiencies, Genetic Forms
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:95494
White-Sutton Syndrome
Optic nerve hypoplasia, Rod-cone dystrophy, Hypoglycemic seizures OMIM:616364
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Orthostatic hypotension, Impaired glucose tolerance, Insulin resistance, Ty... OMIM:606721
Chromosome 2P16.1-P15 Deletion Syndrome
Optic nerve hypoplasia, Hypogonadism OMIM:612513
Congenital Primary Aphakia
Microphthalmia, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of... ORPHA:83461
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Diabetes mellitus, Insulin-resist... OMIM:608594
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic nerve hypoplasia, Optic disc pallor, Retinal coloboma OMIM:300749
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia, Facial palsy, Hypogonadism ORPHA:261349
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Hyperinsulinemia, Decreased serum leptin, Type II diabetes mellitus, Elevat... OMIM:269700
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Orthostatic hypotension, Abno... ORPHA:186
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... ORPHA:101085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hypoglycemic seizures, Xanthelasma, Hypertriglyceridemia, Hyperuricemia, Thyroid... ORPHA:79259
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia OMIM:617864
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hyperglycinemia, Decreased response to growth hormone stimulation test, Dec... ORPHA:470
19P13.13 Microdeletion Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:357001
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Hypokalemia, Increased circulating renin level, Central h... ORPHA:508
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... ORPHA:273
Fg Syndrome Type 1
Optic nerve hypoplasia, Small pituitary gland ORPHA:93932
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Craniosynostosis 4
Optic nerve hypoplasia, Ectopic posterior pituitary OMIM:600775
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology ORPHA:300570
Solitary Fibrous Tumor
Hypophosphatemic rickets, Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia, Reduced C-peptid... ORPHA:2126
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Primary adrenal insuf... ORPHA:275761
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph... ORPHA:534
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Optic disc hypoplasia ORPHA:79345
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia ORPHA:261250
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia, Retinal vascular tortuosity OMIM:243605
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Azotemia, Retinal dystrophy, Hypoplasia of the ovary, Optic nerve hypoplasia OMIM:619321
Asparagine Synthetase Deficiency
Optic nerve hypoplasia, Hypoasparaginemia OMIM:615574
Alagille Syndrome 1
Hypertriglyceridemia, Chorioretinal atrophy, Papillary thyroid carcinoma, Hypercholesterolemia, P... OMIM:118450
Hydranencephaly
Optic nerve hypoplasia, Chorioretinal atrophy, Atrophic pituitary gland ORPHA:2177
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Optic nerve hypoplasia OMIM:620029
Congenital Fibrosis Of Extraocular Muscles
Optic nerve hypoplasia, Hypogonadotropic hypogonadism ORPHA:45358
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Abnormal optic disc morph... ORPHA:508498
Phace Syndrome
Microphthalmia, Retinal vascular malformation, Optic nerve hypoplasia, Hypothyroidism, Lens colob... ORPHA:42775
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos, Attenuation of retinal blood vessels, Optic dis... ORPHA:468631
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Optic nerve hypoplasia ORPHA:221139
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Spondylodysplastic Ehlers-Danlos Syndrome
Optic nerve hypoplasia, Hypogonadism, Agenesis of pineal gland, Optic disc coloboma ORPHA:536471
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Optic nerve hypoplasia OMIM:617506
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:99413
Turner Syndrome
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:881
Mosaic Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:99228
Monosomy X
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Type II diabetes mellitus,... ORPHA:99226
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hypothyroidism, Optic nerve hypoplasia, Abnormal optic nerve morphology ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hypothyroidism, Optic nerve hypoplasia, Abnormal optic nerve morphology ORPHA:352665
Marshall-Smith Syndrome
Optic nerve hypoplasia OMIM:602535
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Holoprosencephaly 13, X-Linked
Optic nerve hypoplasia, Septo-optic dysplasia OMIM:301043
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Chorioretinal coloboma, Optic disc coloboma ORPHA:141099
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Remnants of the hyaloid vascular system OMIM:603671
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Microphthalmia, Elevated circulating creatine kinase concentration, Elevated amni... OMIM:309000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia ORPHA:457284
Holoprosencephaly 9
Microphthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary agenesi... OMIM:610829
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy ORPHA:391665
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Decreased serum testosterone concentration ORPHA:495875
Liver Disease, Severe Congenital
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Abnormal circulating thyroid ... OMIM:619991
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased r... ORPHA:64
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos, Ectopic posterior pituitary, Retinal coloboma ORPHA:508488
Diaphragmatic Hernia 4, With Cardiovascular Defects
Optic nerve hypoplasia OMIM:620025
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Hyperbilirubinemia, Anterior pituitary hypoplasia, Conjugated hyperbilirubine... OMIM:619534
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Optic nerve hypoplasia OMIM:620330
Baller-Gerold Syndrome
Optic atrophy, Optic nerve hypoplasia OMIM:218600
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Optic nerve hypoplasia OMIM:620455
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Photoreceptor l... ORPHA:79318
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia ORPHA:500150
Leukocyte Adhesion Deficiency
Hyperinsulinemic hypoglycemia ORPHA:2968
Chilton-Okur-Chung Neurodevelopmental Syndrome
Anterior pituitary hypoplasia, Septo-optic dysplasia OMIM:619841

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 Bnip3

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 Bnip3.

No publications found that use IMPC mice or data for Bnip3.

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MGI Allele Allele Type Produced
Bnip3em1(IMPC)Mbp Exon Deletion Mice, Tissue

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