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Gene: Bfsp1 MGI:101770

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Gene Summary

Name:
beaded filament structural protein 1, in lens-CP94
Synonyms:
filensin

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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
small superior vagus ganglion Bfsp1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased startle reflex Bfsp1tm1b(EUCOMM)Wtsi HOM Early adult 1.83×10-07
enlarged uterus Bfsp1tm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal eye morphology Bfsp1tm1b(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cecum 3.23% (12 of 371)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
chest bone Unavailable
colon 9.45% (12 of 127)
diaphragm 0.0%
duodenum 1.57% (2 of 127)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 585)
hindlimb 0.0%
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
ileum 11.02% (14 of 127)
jejunum 4.72% (6 of 127)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
stomach pyloric region 0.0%
striatum 0.51% (3 of 585)
sublingual gland 0.0%
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
tongue 3.94% (5 of 127)
trachea 0.51% (3 of 585)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.93% (15 of 382)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Lateral Orientation

9 Images

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Adult LacZ

LacZ Images Section

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Human diseases caused by Bfsp1 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 Bfsp1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391

The table below shows human diseases predicted to be associated to Bfsp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Aniridia 3
Cataract OMIM:617142
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cataract 7
Developmental cataract OMIM:115660
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Galactosemia Iv
Cataract OMIM:618881
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Aniridia 2
Aniridia, Cataract OMIM:617141
Cataract 47
Microcornea, Cataract OMIM:612018
Cataract 42
Developmental cataract OMIM:115900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Cataract 43
Subcapsular cataract OMIM:616279
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Galactosemia Ii
Cataract OMIM:230200
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
X-Linked Retinoschisis
Cataract ORPHA:792
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Dermoids Of Cornea
Corneal opacity OMIM:304730
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Nathalie Syndrome
Cataract OMIM:255990
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Cataract 11, Multiple Types
Cataract OMIM:610623
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Dysequilibrium Syndrome
Cataract ORPHA:1766
Retinitis Pigmentosa 84
Cataract OMIM:618220
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 21, Multiple Types
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma OMIM:610202
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Ovarian Dysgenesis 2
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... OMIM:300510
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Pellagra-Like Syndrome
Cataract OMIM:260650
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Cataract 24
Anterior polar cataract OMIM:601202
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Congenital Varicella Syndrome
Cataract ORPHA:291
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract OMIM:604307
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Retinitis Pigmentosa 4
Cataract OMIM:613731
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Premature Ovarian Failure 7
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:612964
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Morm Syndrome
Cataract ORPHA:75858
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract ORPHA:2528
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Hypomelia With Mullerian Duct Anomalies
Longitudinal vaginal septum, Uterus didelphys OMIM:146160
Retinitis Pigmentosa 2
Cataract OMIM:312600
Xeroderma Pigmentosum, Complementation Group G
Cataract OMIM:278780
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys ORPHA:3411
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... OMIM:614837
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Rudiger Syndrome
Bicornuate uterus, Micropenis, Ovarian cyst OMIM:268650
Retinitis Pigmentosa 37
Cataract OMIM:611131
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Retinitis Pigmentosa 9
Cataract OMIM:180104
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma OMIM:212550
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract ORPHA:2489
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Cahmr Syndrome
Lamellar cataract OMIM:211770
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:612310
Achromatopsia 3
Cataract OMIM:262300
Premature Ovarian Failure 18
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619203
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... OMIM:614841
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... OMIM:194072
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619665
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Martsolf Syndrome 2
Developmental cataract, Cataract OMIM:619420
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... OMIM:273250
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... OMIM:400045
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma ORPHA:314478
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Skin Syndrome
Cataract OMIM:184900
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract OMIM:613730
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Caudal Duplication
Cryptorchidism, Abnormal penis morphology, Uterus didelphys ORPHA:1756
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Perrault Syndrome 4
Bicornuate uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the ut... OMIM:615300
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Trichothiodystrophy 3, Photosensitive
Cataract OMIM:616395
Cataract 49
Posterior cortical cataract OMIM:619593
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... ORPHA:3130
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus ORPHA:2143
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Dystonia, Juvenile-Onset
Cataract OMIM:607371
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract OMIM:601794
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract ORPHA:363741
Partial Androgen Insensitivity Syndrome
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... ORPHA:90797
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina OMIM:146255
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Shawl scrotum OMIM:145420
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
Ifap Syndrome 2
Keratoconjunctivitis sicca, Cataract, Keratitis OMIM:619016
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Normosmic Congenital Hypogonadotropic Hypogonadism
Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Male hypogonadis... ORPHA:432
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Bicornuate uterus OMIM:191830
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Kennerknecht Syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Ehlers-Danlos Syndrome, Classic-Like
Bicornuate uterus, Ambiguous genitalia, female OMIM:606408
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... OMIM:202010
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus OMIM:263210
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Bicornuate uterus, Rectovaginal fistula, Clitoral hypertrophy OMIM:300707
Duplication Of Urethra
Hypospadias, Bifid scrotum, Chordee, Uterus didelphys, Coronal hypospadias, Clitoral hypertrophy,... ORPHA:237
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... ORPHA:90796
Hand-Foot-Genital Syndrome
Hypospadias, Bicornuate uterus, Abnormality of the urethra, Abnormality of the uterus ORPHA:2438
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Hand-Foot-Genital Syndrome
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Chordee, Uterus didelphys, Micropenis OMIM:140000
Prune Belly Syndrome
Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormality of the uterus, Cryptor... ORPHA:2970
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... OMIM:119500
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Hypoplasia of the uterus ORPHA:785
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
46,Xx Gonadal Dysgenesis
Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Premature ovarian insufficiency ORPHA:243
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Xeroderma Pigmentosum, Complementation Group D
Keratoconjunctivitis sicca, Keratitis, Cataract, Corneal neovascularization, Conjunctivitis OMIM:278730
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Micropenis, Premature ovarian in... OMIM:241080
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Microcornea, Cataract OMIM:608279
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys ORPHA:2237
Fryns Syndrome
Hypospadias, Bicornuate uterus, Cryptorchidism, Aganglionic megacolon ORPHA:2059
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Pseudotrisomy 13 Syndrome
Bicornuate uterus, Micropenis, Cryptorchidism OMIM:264480
Microgastria-Limb Reduction Defects Association
Bicornuate uterus, Splenogonadal fusion, Aganglionic megacolon, Cryptorchidism OMIM:156810
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of the uterus OMIM:309801
Microphthalmia, Syndromic 9
Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... OMIM:618820
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:110100
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... ORPHA:90793
Rhombencephalosynapsis
Abnormality of the uterus, Aganglionic megacolon, Septo-optic dysplasia ORPHA:59315
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... ORPHA:3464
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Beaulieu-Boycott-Innes Syndrome
Endometriosis OMIM:613680
Waardenburg Syndrome
Abnormality of the uterus, Abnormal vagina morphology, Aganglionic megacolon ORPHA:3440
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:168558
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:289548
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Micropenis, Endometriosis, Premature ovarian insufficiency ORPHA:363444
Pagod Syndrome
Optic atrophy, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Agona... ORPHA:991
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys OMIM:200980
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Opisthotonus, Bicornuate uterus,... OMIM:269150
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... OMIM:614527
Fanconi Anemia
Hypospadias, Aganglionic megacolon, Azoospermia, Abnormal preputium morphology, Absent testis, Ab... ORPHA:84
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Vaginal atresia, Micropenis, Abnormal fallopian tube morphology, Crypt... ORPHA:1655
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Smith-Lemli-Opitz Syndrome
Hypospadias, Aganglionic megacolon, Bifid scrotum, Bicornuate uterus, Micropenis, Ambiguous genit... OMIM:270400
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypoplasia of the uterus OMIM:137920
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Aganglionic megacolon OMIM:154400
Mosaic Trisomy 9
Hypoplasia of penis, Abnormality of the uterus, Abnormal fallopian tube morphology, Cryptorchidis... ORPHA:99776
Opitz Gbbb Syndrome
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Cryptorchidism, Shawl scrotum ORPHA:2745
Bartsocas-Papas Syndrome 1
Hypoplastic labia majora, Bicornuate uterus, Micropenis, Ambiguous genitalia, Bilateral cryptorch... OMIM:263650
Autosomal Dominant Optic Atrophy And Cataract
Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, Posterior corti... ORPHA:67036
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Matthew-Wood Syndrome
Abnormality of the uterus, Cryptorchidism ORPHA:2470
Meacham Syndrome
Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Blind vagina OMIM:608978
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Labial hypoplasia, Bicornuate uterus, Clitoral hypertrophy ORPHA:140952
Tay-Sachs Disease
Tremor, Optic atrophy, Precocious puberty, Exaggerated startle response ORPHA:845
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Bicornuate uterus, Papillary cystadenoma of the epididymis, Absent vas deferens ORPHA:93111
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micropenis, Septate vagina, Uterus didelphys OMIM:617925
Alg9-Cdg
Bicornuate uterus, Hypoplasia of the ovary ORPHA:79328
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Cystocele, Cry... ORPHA:322
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Currarino Syndrome
Rectovaginal fistula, Bicornuate uterus, Septate vagina OMIM:176450
Fraser Syndrome
Hypospadias, Abnormal vagina morphology, Urethral atresia, Small scrotum, Bicornuate uterus, Vagi... ORPHA:2052
Fryns Syndrome
Hypospadias, Aganglionic megacolon, Bifid scrotum, Bicornuate uterus, Cryptorchidism, Shawl scrotum OMIM:229850
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... OMIM:107480
Microsporidiosis
Abnormality of the endometrium, Abnormal fallopian tube morphology, Urethritis, Prostatitis ORPHA:2552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal ... ORPHA:284339
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Polycystic ovaries, Premature ovarian insufficiency, Hypergonadotropic hypogonadism... ORPHA:572333
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Exaggerated startle response ORPHA:521426
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response ORPHA:438216
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Testicular adrenal rest... ORPHA:90794
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Aplasia/hypoplasia of the uterus, Aplasia of the ovary, Agonadism, Non-obstructive ... ORPHA:2232
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina OMIM:271520
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cervical insufficiency, Uterine prolapse, Cystocele, Cryptorchidism OMIM:130050
Rubinstein-Taybi Syndrome 1
Hypospadias, Aganglionic megacolon, Bifid uterus, Papillary cystadenoma of the epididymis, Premat... OMIM:180849
Fraser Syndrome 1
Hypospadias, Clitoral hypertrophy, Bicornuate uterus, Micropenis, Vaginal atresia, Cryptorchidism OMIM:219000
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... ORPHA:94095
Ulnar-Mammary Syndrome
Abnormality of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:3138
7Q11.23 Microduplication Syndrome
Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal... ORPHA:96121
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Bifid uterus OMIM:236680
Okamoto Syndrome
Bifid uterus ORPHA:2729
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Optic nerve hypoplasia, Aplasia of the vagina ORPHA:457284
Renal Agenesis
Absent vas deferens, Aplasia/hypoplasia of the uterus ORPHA:411709
Meckel Syndrome, Type 1
External genital hypoplasia, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality ... OMIM:249000
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism OMIM:618280
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism ORPHA:649
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Imperforate hymen, Chordee, Exaggerated startle response, Urethral stricture, Crypto... OMIM:619522
Peters Plus Syndrome
Hypospadias, Optic atrophy, Clitoral hypoplasia, Cryptorchidism, Hypoplasia of the uterus ORPHA:709
Peters-Plus Syndrome
Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Clitoral hypoplasia, Cryptorchid... OMIM:261540
Cowden Syndrome
Endometrial carcinoma, Abnormal penis morphology, Abnormality of the uterus, Enlarged polycystic ... ORPHA:201
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicornuate uterus OMIM:265380
Lacrimoauriculodentodigital Syndrome
Bicornuate uterus, Cryptorchidism ORPHA:2363
22Q11.2 Deletion Syndrome
Hypospadias, Optic atrophy, Aganglionic megacolon, Abnormality of the uterus, Cryptorchidism ORPHA:567
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Uterus didelphys, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis ORPHA:93271
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unicornuate uterus, Cryptorchidism, Micropenis, Congenital Horner syndrome OMIM:619503
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Long penis, Clitoral hypertrophy, Bicornuate uterus, Cryptorc... OMIM:268300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Uterine prolapse, Cryptorchidism, Precocious pub... ORPHA:438213
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Townes-Brocks Syndrome
Hypospadias, Urethral valve, Abnormal vagina morphology, Bifid scrotum, Rectovaginal fistula, Rec... ORPHA:857
Limb-Mammary Syndrome
Aplasia of the ovary, Aplasia of the uterus ORPHA:69085
Classical Ehlers-Danlos Syndrome
Cervical insufficiency, Uterine prolapse, Orthostatic hypotension ORPHA:287
Cornelia De Lange Syndrome
Hypospadias, Hypoplastic labia majora, Abnormality of the uterus, Cryptorchidism, Hypoplasia of p... ORPHA:199
Coffin-Siris Syndrome 1
Hypospadias, Cryptorchidism, Clitoral hypertrophy, Aplasia of the uterus OMIM:135900
Pallister-Hall Syndrome
Hypospadias, Aplasia/hypoplasia of the uterus, Small scrotum, Aplasia/Hypoplasia of the vagina, D... ORPHA:672
Wolf-Hirschhorn Syndrome
Hypospadias, Cryptorchidism, Precocious puberty, Aplasia of the uterus OMIM:194190
Coffin-Lowry Syndrome
Uterine prolapse OMIM:303600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Aplasia of the uterus, Anteriorly displaced genitalia, Cryptorchidism OMIM:276820
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse ORPHA:284984
Loeys-Dietz Syndrome 3
Cystocele, Uterine prolapse OMIM:613795
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Aplasia of the upper... 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 Bfsp1

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 Bfsp1.

No publications found that use IMPC mice or data for Bfsp1.

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MGI Allele Allele Type Produced
Bfsp1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Bfsp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Bfsp1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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