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Gene: Sra1 MGI:1344414

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Gene Summary

Name:
steroid receptor RNA activator 1
Synonyms:
Srap

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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
decreased prepulse inhibition Sra1tm1b(EUCOMM)Hmgu HOM   Early adult 2.02×10-05
decreased bone mineral content Sra1tm1b(EUCOMM)Hmgu HOM Early adult 4.82×10-05
small kidney Sra1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal optic disk morphology Sra1tm1b(EUCOMM)Hmgu HOM Early adult 1.71×10-05
abnormal cranium morphology Sra1tm1b(EUCOMM)Hmgu HOM Early adult 6.04×10-06
abnormal bone structure Sra1tm1b(EUCOMM)Hmgu HOM Early adult 2.67×10-05
abnormal uterus morphology Sra1tm1b(EUCOMM)Hmgu HOM Early adult 0.00

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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 Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Hind Leg and Hip

13 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Eye Morphology

Images Ophthalmoscopy

9 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Human diseases caused by Sra1 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 Sra1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Hepatomegaly ORPHA:2398
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... ORPHA:99886
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hepatomegaly, Pancreatitis, Hyperinsulinemia, Insulin resistance, Diabetes mellitus,... ORPHA:79084
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... ORPHA:293964
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
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
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, M... OMIM:604367
Mody
Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Abnormal circulating C-... ORPHA:552
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... OMIM:240900
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, Hirsutism, Reduced s... OMIM:612526
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... OMIM:256450
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hepatomegaly, Hyperinsulinemia, Maturity-onset diab... ORPHA:324575
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Delayed epiphyseal ossification, Retinal degeneration, R... OMIM:618889
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis, Lipodystrophy OMIM:246650
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Generalized lipodystrophy, Hepatomegaly, Hyperinsulinemia, Reduc... ORPHA:363400
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hepat... OMIM:151660
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Hyperinsulinemia, Precocious... ORPHA:528
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276580
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Hyperinsulinemia, Diffuse pancrea... ORPHA:276575
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Obesity And Hypopigmentation
Hepatic steatosis, Obesity, Hyperinsulinemia, Red hair OMIM:620195
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Low anterior hairline, Dorsocervical fat pad, Hyperinsulinemi... OMIM:616033
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Glucose intolerance, L... ORPHA:2457
Cherubism
Optic atrophy, Bone cyst ORPHA:184
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis ORPHA:1538
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased C-peptide level, Lipodystro... OMIM:615238
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Fasting hypoglycemia, Nonket... ORPHA:411593
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Optic atrophy, Facial palsy ORPHA:178377
Sclerosteosis
Optic atrophy, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increased bone miner... ORPHA:3152
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Generalized lipodystro... ORPHA:79086
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Solitary Fibrous Tumor
Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Hypoglycemia, Recurren... ORPHA:2126
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical scleros... OMIM:122860
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Optic atrophy from cranial nerve compressio... OMIM:239100
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Increased circulating ferritin concentration, Impaired glucose tolerance... OMIM:606069
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Osteoporosis ORPHA:2787
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperpla... ORPHA:276556
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... ORPHA:276608
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Reduced bone mineral density, Macular exudate, Retinal neovascularization... ORPHA:891
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Perlman Syndrome
Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femoral hernia ORPHA:2849
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Hyperinsulinemia, Loss of trunca... OMIM:608612
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:608594
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... ORPHA:79237
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Craniodiaphyseal Dysplasia
Optic atrophy, Craniofacial hyperostosis ORPHA:1513
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... ORPHA:2298
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Hypercholesterolemia, Hyperinsulinemia, Loss of subcutaneous adipose ti... OMIM:248370
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Usher Syndrome, Type Iiib
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Failure to thrive, H... ORPHA:79319
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:613327
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic tran... ORPHA:263455
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Retinal Dystrophy And Microvillus Inclusion Disease
Osteopenia, Optic disc pallor OMIM:619446
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Male... ORPHA:168563
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Insulinoma
Hyperinsulinemia, Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Increased body weight, ... ORPHA:97279
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Nephrotic syndrome, Retinal arteriolar constriction, Diffuse mesangial sclerosis, ... OMIM:249660
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Mic... OMIM:614837
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hy... ORPHA:35878
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circu... OMIM:235200
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hepatomegaly, Cirrhosis, Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypogl... OMIM:602579
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... OMIM:262190
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
46,Xy Sex Reversal 11
Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G... OMIM:273250
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Increased circulating cortisol level, Macronodular adre... ORPHA:189427
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Schindler Disease, Type I
Osteopenia, Optic atrophy, Increased urinary O-linked sialopeptides OMIM:609241
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentra... ORPHA:71212
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Obesity Due To Sim1 Deficiency
Obesity, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Chronic kidney disease, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndro... OMIM:146255
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Increased bone mineral density, Facial palsy, Optic disc pallor OMIM:611490
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Craniotelencephalic Dysplasia
Optic atrophy, Craniosynostosis, Septo-optic dysplasia ORPHA:1528
Optic Pathway Glioma
Optic atrophy, Fatigable weakness, Precocious puberty, Papilledema, Neurofibroma ORPHA:2086
Cone-Rod Dystrophy, X-Linked, 3
Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r... OMIM:300476
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Hyperinsulinemia ORPHA:329249
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Osteopetrosis, Increased bone mineral density, Cortical sclerosis... OMIM:620366
Juvenile Paget Disease
Optic atrophy, Cranial hyperostosis, Osteoporosis, Coarse metaphyseal trabecularization, Abnormal... ORPHA:2801
Optic Atrophy 14
Optic disc pallor OMIM:620550
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Stage 5 chronic kidn... OMIM:268315
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Body Mass Index Quantitative Trait Locus 20
Obesity, Hyperinsulinemia OMIM:618406
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... ORPHA:90797
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... ORPHA:1916
Hyperostosis Cranialis Interna
Optic atrophy, Calvarial hyperostosis, Facial palsy, Hyperostosis cranialis interna, Osteoscleros... OMIM:144755
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Optic disc pallor, Cryptorchidism OMIM:613730
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis, Facial palsy OMIM:615085
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Seckel Syndrome 10
Hypertriglyceridemia, Acute pancreatitis, Impaired glucose tolerance, Elevated circulating alanin... OMIM:617253
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Rabson-Mendenhall Syndrome
Premature graying of hair, Increased circulating androgen concentration, Increased serum testoste... ORPHA:769
Stt3B-Cdg
Optic atrophy, Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Cryptorchidism, Micropenis, Small scrotum OMIM:615597
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Leprechaunism
Hepatomegaly, Hyperinsulinemia, Recurrent infantile hypoglycemia, Postprandial hyperglycemia, Fas... ORPHA:508
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Decreased osteoclast co... OMIM:259710
Bangstad Syndrome
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... ORPHA:1227
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Hypoplasia of the u... OMIM:617914
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density... ORPHA:168558
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Reduced bone mineral density... ORPHA:289548
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hepatomegaly, Elevat... OMIM:203800
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Os... ORPHA:432
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Dysosteosclerosis
Optic atrophy, Craniofacial hyperostosis, Increased bone mineral density, Abnormal cranial nerve ... ORPHA:1782
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involvin... ORPHA:371428
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Osteoporosis OMIM:615300
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Abnormal optic disc morphology ORPHA:440727
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, H... ORPHA:3109
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Atypical Werner Syndrome
Premature graying of hair, Lipoatrophy, Hypertriglyceridemia, Delayed puberty, White forelock, Hy... ORPHA:79474
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Renal insufficiency, Polycystic kidney dysplasia, Vesicoureteral reflu... ORPHA:2237
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Osteoporosis, Hypoplasi... ORPHA:785
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... ORPHA:98977
Roifman-Chitayat Syndrome
Osteopenia, Optic atrophy, Ectopic kidney OMIM:613328
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Abnormal optic disc morphology, Shawl scrotum, Cryptorchidism,... OMIM:617516
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... ORPHA:83628
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Abnormally ossified vertebrae, Septo-optic dysplasia, Vaginal atresia, Cryptorchid... ORPHA:3301
Hyperoxaluria, Primary, Type I
Optic atrophy, Hematuria, Choroidal neovascularization, Calcium oxalate nephrolithiasis, Increase... OMIM:259900
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Reduced ... ORPHA:90796
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... ORPHA:448237
Leber Optic Atrophy
Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy OMIM:535000
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
X-Linked Acrogigantism
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... ORPHA:300373
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Satoyoshi Syndrome
Hypoplasia of the uterus, Osteolytic defects of the phalanges of the hand OMIM:600705
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct... OMIM:154230
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Abnormal testis morphology, Attenuation o... ORPHA:791
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Fatigable weakness of skeletal muscles, ... ORPHA:284339
Primary Hyperoxaluria
Optic atrophy, Hematuria, Choroidal neovascularization, Aciduria, Calcium oxalate nephrolithiasis... ORPHA:416
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Epiphyseal stippling, Hyperoxaluria, Renal cyst, Rod-cone dystrophy OMIM:601539
Meckel Syndrome 12
Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia OMIM:616258
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... OMIM:258040
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased response to growth hormone stimulation test, Hyp... OMIM:176270
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ... OMIM:614527
Meckel Syndrome 14
Decreased calvarial ossification, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous g... OMIM:619879
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology, Decreased testicular size,... ORPHA:293967
Autosomal Dominant Hypocalcemia
Optic atrophy, Reduced bone mineral density, Fatigable weakness, Hypercalciuria, Hypermagnesiuria... ORPHA:428
Liver Disease, Severe Congenital
Nail dystrophy, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary... OMIM:619991
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Hyperli... ORPHA:3464
Renal Cysts And Diabetes Syndrome
Hypospadias, Unilateral renal agenesis, Nephrolithiasis, Renal cyst, Bicornuate uterus, Glycosuri... OMIM:137920
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, I... ORPHA:230
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Pagod Syndrome
Optic atrophy, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uteru... ORPHA:991
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99228
Monosomy X
Cholestatic liver disease, Delayed puberty, Cirrhosis, Hyperinsulinemia, Elevated circulating hep... ORPHA:99226
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... ORPHA:322
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Osteopetrosis, Abnormal trabecular bone morphology, Optic nerve compression OMIM:612301
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... ORPHA:90794
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Papilledema, Proteinuria, Micropenis, Male hypogonadism, Rod-cone dystr... OMIM:619471
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Papilledema, Retinal calcification, Thickened cortex of long bones OMIM:127000
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Retinal dystrophy, Early ossification of capital femoral epiphyses, Renal cortical c... ORPHA:397715
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Enuresis, Abnormal optic disc morphology, Aplasia/hypopla... ORPHA:96121
Microphthalmia, Syndromic 9
Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hydronephrosis, Cryptorchidism, Hypoplasia of... OMIM:601186
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Aplasia of the uterus, Micropenis, Unilateral renal agenesis OMIM:614083
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Steinert Myotonic Dystrophy
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Elevated ci... ORPHA:273
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormal optic disc morphology ORPHA:363417
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Clitoral hypoplasia, Rod-cone dystrophy, Hypoplasi... OMIM:618419
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Retinal dystrophy, Hypoplasia of the ovary, Optic nerve hypoplasia, Decreased test... OMIM:619321
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Testicular neoplasm, Retinal atrophy, Optic disc pall... ORPHA:71505
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Abnormal liver parenchyma morphology, Elevated cir... ORPHA:79318
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, Micropenis, Pigm... OMIM:309801
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... OMIM:618280
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Pelvic kidney, Facial palsy, Retinal coloboma, Abnormal opti... ORPHA:508498
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus OMIM:615866
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Townes-Brocks Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Rectovaginal fistula, Vesicoureteral reflux, Bifid scr... OMIM:107480
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Aplasia of the uterus, Horseshoe kidney, Vesicoureteral reflux OMIM:274000
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Ambiguous genitalia, Hypospadias, Vesicovaginal f... OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type
Osteolytic defects of the phalanges of the hand, Cervical insufficiency, Cryptorchidism, Uterine ... OMIM:130050
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Abnormal vitreous humor morphology, Retinal det... ORPHA:649
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Renal hypo... OMIM:135900
Wolf-Hirschhorn Syndrome
Abnormal sternal ossification, Hypospadias, Aplasia of the uterus, Precocious puberty, Cryptorchi... OMIM:194190
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Okamoto Syndrome
Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Bifid uterus, Unilatera... ORPHA:2729
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Decreased calvarial ossificat... OMIM:276820
Loeys-Dietz Syndrome
Craniosynostosis, Uterine rupture ORPHA:60030
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Hydrolethalus Syndrome 1
Bifid uterus, Hydronephrosis, Hypospadias, Abnormal vagina morphology OMIM:236680
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Retinal coloboma, Clitoral hypoplasia, Renal hypoplasia, Hydro... OMIM:261540
Peters Plus Syndrome
Optic atrophy, Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Clitoral hypoplasia, ... ORPHA:709
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ... ORPHA:286
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Renal cyst, S... OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sra1

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 Sra1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines. Metabolites (August 2023) Sra1tm1b(EUCOMM)Hmgu PMC10456929
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Sra1tm1b(EUCOMM)Hmgu PMC8163790
LncRNA SRA promotes hepatic steatosis through repressing the expression of adipose triglyceride lipase (ATGL). Scientific reports (October 2016) Sra1tm1a(EUCOMM)Hmgu PMC5069493
SRA gene knockout protects against diet-induced obesity and improves glucose tolerance. The Journal of biological chemistry (March 2014) Sra1tm1a(EUCOMM)Hmgu PMC4036315

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Sra1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Sra1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Sra1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Sra1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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