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Gene: Tacstd2 MGI:1861606

Gene Summary

Name:

tumor-associated calcium signal transducer 2

Synonyms:

GA733-1, Ly97, EGP-1, TROP2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal eye morphology	Tacstd2^em1(IMPC)Mbp	HOM	Early adult	0.00
small testis	Tacstd2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased exploration in new environment	Tacstd2^em1(IMPC)Mbp	HOM	Early adult	7.78×10^-06
microphthalmia	Tacstd2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Tacstd2^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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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

70 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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Human diseases caused by Tacstd2 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.

Human diseases associated with Tacstd2 (2 diseases)
Human diseases predicted to be associated with Tacstd2 (425 diseases)

The table below shows human diseases associated to Tacstd2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Corneal Dystrophy, Gelatinous Drop-Like			OMIM:204870
Gelatinous Drop-Like Corneal Dystrophy			ORPHA:98957

The table below shows human diseases predicted to be associated to Tacstd2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy, Cognitive impairment	ORPHA:276183
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility, Cognitive impairment	OMIM:613909
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe...	OMIM:614840
Gombo Syndrome	Microphthalmia, Delayed puberty	OMIM:233270
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia	ORPHA:141333
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism	ORPHA:363741
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism	OMIM:615524
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:601794
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit...	ORPHA:3000
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cryptorchidism	OMIM:613730
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal external genitalia	ORPHA:3469
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia...	OMIM:610125
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Pierpont Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:602342
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Bresek Syndrome	Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism	ORPHA:85284
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Joubert Syndrome 37	Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism	OMIM:619185
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Congenital Toxoplasmosis	Microphthalmia, Cognitive impairment	ORPHA:858
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr...	ORPHA:2470
Meckel Syndrome, Type 8	Ambiguous genitalia, Microphthalmia, Anophthalmia	OMIM:613885
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:77298
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Microphthalmia	OMIM:618652
Trisomy 13	Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia of the iris...	ORPHA:3378
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Progressive neurologic deterioration, Cryptorchidism	OMIM:214150
Microphthalmia With Brain And Digit Anomalies	Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:139471
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism	ORPHA:228390
Warburg Micro Syndrome 4	Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size	OMIM:615663
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Congenital Fibrinogen Deficiency	Microphthalmia, Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size	ORPHA:335
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Hydrolethalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:2189
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Seckel Syndrome 2	Microphthalmia, Hypospadias	OMIM:606744
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Micro...	OMIM:617914
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame...	OMIM:235200
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Attention deficit hyperactivity disorder, Cryptorchidism	ORPHA:494344
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis, Small scrotum	OMIM:610756
Moebius Syndrome	Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size	OMIM:157900
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia	ORPHA:2505
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Isosexual precocious puberty	ORPHA:2788
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Lissencephaly 8	Microphthalmia	OMIM:617255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis, Cryptorchidism	OMIM:243310
Warburg Micro Syndrome 3	Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size	OMIM:614222
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Attention deficit hyperactivity disorder, Cryptorchidism	ORPHA:404440
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Small scrotum, Cryptorchidism	ORPHA:2728
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Type I diabetes mellitus	ORPHA:290
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Myoclonic-Astatic Epilepsy	Microphthalmia, Abnormal emotion, Attention deficit hyperactivity disorder	ORPHA:1942
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Cryptorchidism	OMIM:618494
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Delayed puber...	ORPHA:2510
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Microphthalmia	OMIM:616395
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Fanconi Anemia, Complementation Group S	Microphthalmia, Ovarian carcinoma, Ovarian neoplasm	OMIM:617883
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic...	ORPHA:2250
Marden-Walker Syndrome	Microphthalmia, Micropenis, Hypospadias, Cryptorchidism	OMIM:248700
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism	ORPHA:3301
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Attention deficit hyperactivity disorder	OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Type II diabetes mellitus	ORPHA:3191
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism	OMIM:244300
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Walker-Warburg Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism	ORPHA:899
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Micropenis	OMIM:602361
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia, Cryptorchidism	OMIM:613001
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio...	OMIM:206900
Kapur-Toriello Syndrome	Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis	ORPHA:2328
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Dementia, Buphthalmos	OMIM:310600
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Cryptorchidism	OMIM:612530
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Wolfram Syndrome 1	Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy	OMIM:222300
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Monosomy 18P	Microphthalmia, Hypothyroidism	ORPHA:1598
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Cryptorchidism, Bilateral microphthalmos	ORPHA:369891
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Unilateral microphthalmos	OMIM:618874
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti...	ORPHA:465508
Fetal Alcohol Syndrome	Microphthalmia, Cognitive impairment	ORPHA:1915
1Q21.1 Microdeletion Syndrome	Microphthalmia, Depression, Attention deficit hyperactivity disorder, Cryptorchidism	ORPHA:250989
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Martsolf Syndrome 1	Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism	OMIM:212720
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias, Attention deficit hyperactivity disorder, Depression	ORPHA:65286
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Fanconi Anemia, Complementation Group I	Microphthalmia, Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stim...	OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia	OMIM:619148
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:284160
Pseudotrisomy 13 Syndrome	Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis	OMIM:264480
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Attention deficit hyperactivity disorder, Supernumerary nipple	OMIM:620098
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Microphthalmia, Lenz Type	Microphthalmia, Hypospadias, Cryptorchidism	ORPHA:568
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Temtamy Syndrome	Microphthalmia	OMIM:218340
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Fanconi Anemia, Complementation Group F	Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism	OMIM:603467
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:614230
Fanconi Anemia, Complementation Group A	Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:227650
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Joubert Syndrome 14	Microphthalmia, Irritability	OMIM:614424
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia...	OMIM:603457
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Fanconi Anemia, Complementation Group E	Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:600901
Vacterl With Hydrocephalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:3412
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Rodrigues Blindness	Microphthalmia	OMIM:268320
3P25.3 Microdeletion Syndrome	Microphthalmia, Attention deficit hyperactivity disorder	ORPHA:435638
Mosaic Trisomy 9	Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog...	ORPHA:99776
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp...	ORPHA:2166
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Decreased fertility	OMIM:234050
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Clitoral hypertrophy	OMIM:616449
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia	OMIM:613451
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Fryns Syndrome	Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, Labial hypoplasia, Micropht...	OMIM:147791
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Cohen Syndrome	Microphthalmia, Delayed puberty, Cryptorchidism	ORPHA:193
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Holoprosencephaly 9	Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth...	OMIM:610829
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Attention deficit hyperactivity...	OMIM:227646
Xeroderma Pigmentosum, Complementation Group D	Mental deterioration, Microphthalmia	OMIM:278730
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Cognitive impairment, Microphthalmia, Supernumerary nipple	ORPHA:1236
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Trisomy 18	Microphthalmia, Abnormal morphology of female internal genitalia, Cognitive impairment, Cryptorch...	ORPHA:3380
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Dubowitz Syndrome	Short attention span, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Microphthalmia	OMIM:223370
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male external genitalia, Microph...	OMIM:236670
Fanconi Anemia, Complementation Group C	Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:227645
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Meckel Syndrome	Anophthalmia, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male p...	ORPHA:564
Refsum Disease	Microphthalmia	ORPHA:773
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Diabetes mellitus, Cryptorchidism, Panhypopituitarism, Cogniti...	ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h...	OMIM:309801
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Phace Association	Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism	OMIM:606519
2Q31.1 Microdeletion Syndrome	Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism	ORPHA:251014
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Frontorhiny	Microphthalmia, Hypopituitarism, Diabetes insipidus	ORPHA:391474
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Fanconi Anemia	Hypospadias, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of the iris, Azoos...	ORPHA:84
Microphthalmia, Syndromic 9	Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601186
Meckel Syndrome 14	Ambiguous genitalia, Microphthalmia, Aplasia of the uterus	OMIM:619879
Mosaic Trisomy 1	Microphthalmia, Micropenis, Penile hypospadias	ORPHA:1692
Steinert Myotonic Dystrophy	Endometrial carcinoma, Short attention span, Diabetes mellitus, Hypergonadotropic hypogonadism, D...	ORPHA:273
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Male urethral meatus stenosis, Cholelithiasis, Hypospadias	ORPHA:464738
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia...	ORPHA:861
Fanconi Anemia, Complementation Group L	Microphthalmia, Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder	OMIM:614083
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Joubert Syndrome 2	Microphthalmia, Hypoplastic male external genitalia	OMIM:608091
Atelis Syndrome 2	Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia,...	OMIM:620185
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,...	OMIM:263650
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Thyroid C cell hyperplasia	OMIM:300952
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Attention deficit hyperactivity disorder, Microphthalmia, Annular pa...	OMIM:616975
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism	OMIM:268400
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Incontinentia Pigmenti	Cognitive impairment, Microphthalmia, Attention deficit hyperactivity disorder, Supernumerary nipple	ORPHA:464
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Cousin Syndrome	Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male	OMIM:260660
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn...	ORPHA:2556
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Cognitive impairment	ORPHA:2092
Hallermann-Streiff Syndrome	Microphthalmia, Hypothyroidism, Cryptorchidism	ORPHA:2108
Charge Syndrome	Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Abnormali...	ORPHA:138
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Incontinentia Pigmenti	Hypoplasia of the fovea, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Microphthalmi...	OMIM:308300
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Cryptorchidism, Depression, Buphthalmos, Abnormal circulating calcium-phosph...	ORPHA:534
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Monosomy 9P	Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism	ORPHA:261112
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Micropenis, Supernumerary nipple, Cryptorchidism	OMIM:613884
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s...	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Microphthalmia, Micropenis	OMIM:609945
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,...	ORPHA:2052
Mend Syndrome	Microphthalmia, Cryptorchidism	ORPHA:401973
Roberts Syndrome	Microphthalmia, Long penis, Clitoral hypertrophy, Cryptorchidism	ORPHA:3103
Norrie Disease	Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cryptorchidism, Hypoplasia of the iris, Irrita...	ORPHA:649
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Autosomal Dominant Kenny-Caffey Syndrome	Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Abnormal circ...	ORPHA:93325
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cholelithiasis, Cryptorchidism, Depression, Hyp...	ORPHA:567
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Hypothyroidism, Cryptorchidism	OMIM:620005
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Small scrotum, Hypospadias, Cryptorchidism	OMIM:616734
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration	OMIM:601812
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis	OMIM:617925
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia, Cryptorchidism	ORPHA:1106
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Basal Cell Nevus Syndrome 1	Microphthalmia, Ovarian fibroma, Ovarian carcinoma	OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia, Micropenis, Cryptorchidism	OMIM:133540
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Amb...	OMIM:249000
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Momo Syndrome	Abnormality of the thyroid gland, Bilateral microphthalmos	ORPHA:2563
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Monosomy 9Q22.3	Microphthalmia, Ovarian fibroma	ORPHA:77301
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Cockayne Syndrome	Diabetes mellitus, Cryptorchidism, Absence of pubertal development, Cognitive impairment, Delayed...	ORPHA:191
Mosaic Variegated Aneuploidy Syndrome	Ambiguous genitalia, Microphthalmia, Hypothyroidism, Vaginal neoplasm	ORPHA:1052
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the...	ORPHA:672
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia, Polycystic ovaries	ORPHA:137675
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Microphthalm...	OMIM:273395
Trichothiodystrophy	Cryptorchidism, Gonadal dysgenesis, Bilateral microphthalmos	ORPHA:33364
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus	ORPHA:468631
Steinfeld Syndrome	Microphthalmia, Absent gallbladder	OMIM:184705
Microphthalmia, Syndromic 2	Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Adrenal insufficiency,...	OMIM:300166
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula	ORPHA:2538
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Microphthalmia	OMIM:127000
Aicardi Syndrome	Precocious puberty, Microphthalmia, Delayed puberty	ORPHA:50
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Optic nerve hypoplasia	ORPHA:508498
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism	ORPHA:42775
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Cockayne Syndrome Type 3	Cognitive impairment, Microphthalmia, Progressive neurologic deterioration	ORPHA:90324
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Decreased testicular size, Phimosis	OMIM:309500
Myhre Syndrome	Microphthalmia, Cryptorchidism	OMIM:139210
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Yunis-Varon Syndrome	Hypospadias, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia majora, Microphthalmia, ...	ORPHA:3472
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Micr...	OMIM:612289
Charge Syndrome	Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor...	OMIM:214800
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology	OMIM:154500
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Aicardi Syndrome	Precocious puberty, Microphthalmia	OMIM:304050
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microphthal...	OMIM:607932
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Fraser Syndrome 1	Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Abnormal thymus morphology, ...	OMIM:219000
Degcags Syndrome	Hypospadias, Cryptorchidism, Chordee, Ambiguous genitalia, Microphthalmia	OMIM:619488
Focal Dermal Hypoplasia	Anophthalmia, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Hypoplastic nipples, Lab...	OMIM:305600
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Panhypopituitarism	OMIM:610828
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi...	ORPHA:857
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Witteveen-Kolk Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph...	OMIM:613406
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia	ORPHA:141099
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Absent gallbladder	ORPHA:3186
Holoprosencephaly 1	Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia	OMIM:236100
Neu-Laxova Syndrome 1	Cryptorchidism, Microphthalmia, Bifid uterus	OMIM:256520
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism	OMIM:309000
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia	OMIM:235730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology	OMIM:236680
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopic thymus t...	OMIM:113620
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Attention deficit hyperactivity disorder	OMIM:619539
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Microphthalmia...	OMIM:268300
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
8Q24.3 Microdeletion Syndrome	Low frustration tolerance, Ectopic posterior pituitary, Bilateral microphthalmos, Optic nerve hyp...	ORPHA:508488
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord...	ORPHA:261537
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord...	ORPHA:2152
Holoprosencephaly 2	Anterior pituitary agenesis, Microphthalmia, Diabetes insipidus, Adrenal hypoplasia	OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord...	ORPHA:261552
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Hypospadias, Cryptorchidism	OMIM:309800
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Corneal Dystrophy, Gelatinous Drop-Like		OMIM:204870
Gelatinous Drop-Like Corneal Dystrophy		ORPHA:98957

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 Tacstd2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Tacstd2.

No publications found that use IMPC mice or data for Tacstd2.

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MGI Allele	Allele Type	Produced
Tacstd2^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tacstd2 MGI:1861606

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Tacstd2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data