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Gene: Pdss1 MGI:1889278

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Gene Summary

Name:
prenyl (solanesyl) diphosphate synthase, subunit 1
Synonyms:
2610203G20Rik,  2700031G06Rik,  Tprt,  mSPS1

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 liver morphology Pdss1em1(IMPC)Mbp HET Early adult 0.00
enlarged ovary Pdss1em1(IMPC)Mbp HET Early adult 0.00
abnormal adrenal gland morphology Pdss1em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pdss1em1(IMPC)Mbp HOM   Early adult 0.00
prenatal lethality prior to heart atrial septation Pdss1em1(IMPC)Mbp HOM   E15.5 0.00
embryonic lethality prior to organogenesis Pdss1em1(IMPC)Mbp HOM   E9.5 0.00
abnormal ovary morphology Pdss1em1(IMPC)Mbp HET Early adult 0.00
abnormal retina morphology Pdss1em1(IMPC)Mbp HET   Early adult 3.51×10-06
cataract Pdss1em1(IMPC)Mbp HET Early adult 6.03×10-05

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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 Pdss1 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.

The table below shows human diseases associated to Pdss1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651

The table below shows human diseases predicted to be associated to Pdss1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Galactosemia Iv
Cataract, Prolonged neonatal jaundice, Hepatomegaly OMIM:618881
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Functioning Gonadotropic Adenoma
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:91348
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Morm Syndrome
Cataract, Retinal atrophy, Micropenis, Retinal dystrophy ORPHA:75858
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Cataract 42
Cataract, Developmental cataract OMIM:115900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hyperinsulinemia, Polycystic ovaries, Diabetes mellitus, Hepatic stea... ORPHA:79084
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone d... ORPHA:363741
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated circulating hepatic transaminase concentration, Subcapsular cataract, Hypergonadotropic ... OMIM:268020
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism OMIM:202110
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma ORPHA:2489
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Hyperinsulinemia, Increased serum testosterone level, Biliary... ORPHA:2298
Galactosemia Ii
Cataract, Prolonged neonatal jaundice OMIM:230200
Retinopathy Of Prematurity
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Increased serum testosterone level, Long penis, Retinopathy, Hypothyroidism... ORPHA:769
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Abnormality of retin... ORPHA:3085
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... ORPHA:90796
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma, Polycystic ovaries, Hypogonadotropic hypogonadism ORPHA:1643
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Trichomegaly
Cataract OMIM:190330
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration,... OMIM:201910
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibrosis, Hepatic steatosis... ORPHA:280356
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Perineal hypospadias, Increased circula... OMIM:201810
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Enlarged polycystic ovaries, Biliary tract neoplasm, Pancreatic a... ORPHA:2869
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessel... OMIM:204000
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonadal calcification ORPHA:314473
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract, Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly OMIM:614876
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro... ORPHA:90791
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the spleen, Abnormality of ... ORPHA:543
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Diabetes mellitus, Hepatic steatosis OMIM:608709
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert... OMIM:202010
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Hydrocele testis, Rod-cone dystrophy, C... ORPHA:96181
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Abnormality of the liver, Cataract, Rod-cone dystrophy, Pigmentar... OMIM:614307
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Testicular microlithiasis, Decreased circulating luteinizing hormon... OMIM:228300
Galactose Mutarotase Deficiency
Cataract, Hepatomegaly, Cholestasis, Decreased liver function ORPHA:570422
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Clitoral hypertrophy, Long penis, Increased circ... ORPHA:508
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Opitz Gbbb Syndrome
Hypospadias, Thyroglossal cyst, Bifid scrotum, Bicornuate uterus, Shawl scrotum, Enlarged ovaries... ORPHA:2745
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Galactose Epimerase Deficiency
Cataract, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Male hypogonadism, Abnormality of the female genit... ORPHA:261529
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr... OMIM:305390
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... OMIM:219080
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Tetragametic Chimerism
Clitoral hypertrophy, Perineal hypospadias, Ovotestis, Bifid scrotum, Abnormal testis morphology,... ORPHA:199310
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Polycystic ovaries, Hepatic st... ORPHA:79085
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Retinal dystrophy ORPHA:3156
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno... ORPHA:1227
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Hepatomegaly, Optic disc pallor, Cryptorchidism OMIM:613730
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... ORPHA:2410
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Proteus-Like Syndrome
Thymus hyperplasia, Retinal detachment, Heterochromia iridis, Splenomegaly, Cataract, Limbal derm... ORPHA:2969
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Laurence-Moon Syndrome
Hypoplasia of penis, Congenital hepatic fibrosis, Type II diabetes mellitus, Displacement of the ... ORPHA:2377
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ... OMIM:615830
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Astigmatism, Retinal dystrophy, Hyperautofluorescent mac... OMIM:209900
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Aniridia, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str... OMIM:194072
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Decreased serum leptin, Decreased adiponectin level, Polycystic ovari... ORPHA:435651
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Glucocortocoid-ins... ORPHA:251274
Cowden Syndrome 5
Angioid streaks of the fundus, Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hypert... OMIM:615108
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis... OMIM:610475
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Cowden Syndrome 6
Angioid streaks of the fundus, Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid ade... OMIM:615109
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism OMIM:613677
Cowden Syndrome
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormal penis morphology, Conjunctival hamartom... ORPHA:201
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Ovarian Dysgenesis 10
Delayed puberty, Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level... OMIM:619834
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract, Uterine leiomyoma, Uterine leiomyosarcoma, Vaginal neoplasm ORPHA:523
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia, Optic disc pallor ORPHA:3173
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... OMIM:615954
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr... OMIM:300578
Ataxia-Telangiectasia
Delayed puberty, Elevated circulating hepatic transaminase concentration, Abnormal testis morphol... ORPHA:100
Neonatal Adrenoleukodystrophy
Optic atrophy, Cataract, Primary adrenal insufficiency, Abnormality of retinal pigmentation, Abno... ORPHA:44
Ovarian Dysgenesis 9
Delayed puberty, Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovar... OMIM:619665
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Type II diabetes mellitus, Polycystic ovaries, He... OMIM:604367
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Developmental cataract, Rig... ORPHA:335
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Ambiguous genitalia, Increased urinary cortisol ... ORPHA:786
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Wagr Syndrome
Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri... ORPHA:893
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... ORPHA:414
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Cataract, Diabetes mellitus, Hepatic steatosis OMIM:606069
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Abnormality of the hypothalamus-pituitary axis, Sclerocornea, Cho... ORPHA:139471
Cowden Syndrome 1
Angioid streaks of the fundus, Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid ade... OMIM:158350
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Premature Ovarian Failure 10
Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased testicular size, Elevated circula... OMIM:612885
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatomegaly, Decreased serum leptin, Decreased adiponectin lev... ORPHA:435660
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Joubert Syndrome 9
Cataract, Hepatic fibrosis, Astigmatism, Retinal dystrophy OMIM:612285
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba... ORPHA:90795
Intermediate Uveitis
Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V... ORPHA:279914
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Optic d... ORPHA:263479
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctiv... OMIM:240300
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Premature Ovarian Failure 8
Ovarian neoplasm, Elevated circulating follicle stimulating hormone level, Elevated circulating l... OMIM:615723
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret... OMIM:612109
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ect... OMIM:610125
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Decreased serum estradiol, C... OMIM:618841
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Primary hyperparathyr... ORPHA:189427
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Donohue Syndrome
Clitoral hypertrophy, Hyperinsulinemia, Long penis, Cholestasis, Precocious puberty, Ovarian cyst... OMIM:246200
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Congenital Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Precocious puberty in females, Clitoral hypertrophy, O... ORPHA:528
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Partial Androgen Insensitivity Syndrome
Blind vagina, Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, In... ORPHA:90797
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal atresia, Cataract,... OMIM:273395
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Increased serum testosterone level, Cholestasis, Abnormal t... ORPHA:562
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Testicular gonadoblastoma, Abnormal la... ORPHA:251510
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... ORPHA:2235
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Sex reversal, Hypospadias, Adrenal gland agenesis OMIM:611812
Distal Deletion 10P
Polycystic ovaries, Cryptorchidism, Hypoplasia of penis ORPHA:1580
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Abnormality of the ovary ORPHA:2795
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Splenomegaly, Polycystic ovaries, Diabe... ORPHA:79083
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Galactosemia I
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating alanine aminotransferase ... OMIM:230400
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar... OMIM:615986
Proteus Syndrome
Retinal hamartoma, Enlarged kidney, Buphthalmos, Ovarian neoplasm, Diabetes insipidus, Testicular... ORPHA:744
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary OMIM:611548
Preeclampsia
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Polycystic ova... ORPHA:275555
Premature Ovarian Failure 21
Decreased serum estradiol, Streak ovary, Elevated circulating follicle stimulating hormone level,... OMIM:620311
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma OMIM:617100
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Cadds
Elevated circulating hepatic transaminase concentration, Cholangitis, Adrenal hypoplasia, Cholest... ORPHA:369942
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Increased serum testosterone level, Abnormality of the ovary, Abnormal ... ORPHA:247768
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane... OMIM:221900
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene... OMIM:214110
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Band keratopathy, Keratoconjunctivitis, Asplenia, Hypothyroidism, Chronic hepatitis, P... OMIM:269200
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Hypospadias, A... ORPHA:1772
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Diabetes mellitus, Hepatic steatosis ORPHA:2348
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating hepatic... ORPHA:264580
Short Syndrome
Astigmatism, Megalocornea, Rieger anomaly, Ovarian cyst, Cataract, Insulin-resistant diabetes mel... OMIM:269880
Hypoparathyroidism, Familial Isolated, 1
Cataract, Decreased circulating parathyroid hormone level, Hypoparathyroidism OMIM:146200
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Retinal dystrophy, Posterior polar cataract OMIM:613763
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Pterygium, Premature thelarche, Papilledema, Nodular goiter, Type I diabetes mellitus, Polycystic... ORPHA:371428
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Proximal Myotonic Myopathy
Cataract ORPHA:606
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Biliary tract abnormality, ... OMIM:175200
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Hepatic steato... ORPHA:79086
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat... ORPHA:79240
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Familial Isolated Hypoparathyroidism
Cataract, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroi... ORPHA:2238
Werner Syndrome
Elevated circulating alanine aminotransferase concentration, Hypogonadism, Elevated circulating a... OMIM:277700
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary ORPHA:3109
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperinsulinemi... OMIM:608594
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Iri... ORPHA:3301
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus OMIM:236680
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ... OMIM:268315
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Polycystic ovaries ORPHA:1770
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma ORPHA:454840
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperinsulinemi... OMIM:269700
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hepatomegaly, Labial pseudohypertrophy, Acute pancreatitis, Type II diabetes me... OMIM:151660
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c... ORPHA:79098
Cushing Disease
Optic nerve compression, Increased urinary cortisol level, Adrenal hyperplasia, Pituitary cortico... ORPHA:96253
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Corneal opacity, Congenital aphakia, Megalocornea, Cardiomegaly, Pol... ORPHA:137675
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Meckel Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Accessory spleen, Microcornea, Asplenia, Crypto... ORPHA:564
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Pancreatitis, Decreased serum leptin, Splenomegaly, Decreased adiponectin level, Po... ORPHA:280365
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Precocious puberty in females, Abnormality of the endocrine system, Testicular... ORPHA:249
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating ACTH level, Pancreatic endocrine tumor, Pheochromocytoma, Increased urinary... ORPHA:99889
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid... OMIM:609049
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Abnormality of the adrenal glands, Polycystic ovaries ORPHA:2176
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Ovarian cyst, Hyperparathyroidism, Splenic cyst OMIM:618188
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, Sclerocornea, Ca... OMIM:309801
Bardet-Biedl Syndrome
Hydrometrocolpos, Astigmatism, Elevated circulating hepatic transaminase concentration, Retinal d... ORPHA:110
Doors Syndrome
Optic atrophy, Congenital hypothyroidism, Adrenal hyperplasia, Cataract, Ambiguous genitalia ORPHA:79500
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Delayed puberty, Abnormal vitreous humor morpho... ORPHA:649
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Enlarged kidney, Increased h... ORPHA:79259
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Enlarged kidney, Hydrocele testis ORPHA:276280
Chromosome 17Q12 Deletion Syndrome
Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, Aplasia of the ut... OMIM:614527
Orofaciodigital Syndrome I
Hepatic cysts, Hepatic fibrosis, Pancreatic cysts, Ovarian cyst OMIM:311200
Digeorge Syndrome
Cholelithiasis, Hypoplasia of the thymus, Hypothyroidism, Posterior embryotoxon, Parathyroid hypo... OMIM:188400
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Decreased circulating progesterone, Lacrimal gland hypoplasia, Hypergonad... ORPHA:572333
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
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h... ORPHA:64
Williams Syndrome
Retinal arteriolar tortuosity, Cardiomegaly, Cholelithiasis, Hypoplasia of penis, Corneal opacity... ORPHA:904
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651

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 Pdss1

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 Pdss1.

No publications found that use IMPC mice or data for Pdss1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pdss1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pdss1tm295534(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pdss1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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