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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
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
small testis	Tacstd2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye 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 (414 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
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Spinocerebellar Ataxia 32	Cognitive impairment, Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Spinocerebellar Ataxia Type 32	Cognitive impairment, Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Nanophthalmos 4	Microphthalmia	OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Microphthalmia	ORPHA:3469
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Cryptorchidism	OMIM:613730
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Meckel Syndrome, Type 8	Ambiguous genitalia, Microphthalmia, Anophthalmia	OMIM:613885
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Microphthalmia, Cryptorchidism	ORPHA:85284
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2547
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality o...	ORPHA:2470
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Joubert Syndrome 37	Decreased testicular size, Microphthalmia, Cryptorchidism, Micropenis	OMIM:619185
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
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
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:77298
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Trisomy 13	Microphthalmia, Anophthalmia, Cognitive impairment, Displacement of the urethral meatus, Aplasia/...	ORPHA:3378
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Bilateral cryptorchidism	OMIM:618652
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism, Progressive neurologic deterioration	OMIM:214150
Microphthalmia With Brain And Digit Anomalies	Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:139471
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Vaginal atresia, Attention deficit hyperactivity disorder...	OMIM:617914
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Congenital Fibrinogen Deficiency	Decreased testicular size, Hemorrhagic ovarian cyst, Microphthalmia, Micropenis	ORPHA:335
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Seckel Syndrome 2	Microphthalmia, Hypospadias	OMIM:606744
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Rere-Related Neurodevelopmental Syndrome	Attention deficit hyperactivity disorder, Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:494344
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Hemochromatosis, Type 1	Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Testicular ...	OMIM:235200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Warburg Micro Syndrome 3	Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis	OMIM:614222
Baraitser-Winter Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis	OMIM:243310
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Decreased circulating para...	OMIM:241410
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Congenital Rubella Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus	ORPHA:290
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Attention deficit hyperactivity disorder, Microphthalmia, Cryptorchidism	ORPHA:404440
Lissencephaly 8	Microphthalmia	OMIM:617255
Myoclonic-Astatic Epilepsy	Attention deficit hyperactivity disorder, Abnormal emotion, Microphthalmia	ORPHA:1942
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Micro Syndrome	Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplas...	ORPHA:2510
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Microphthalmia, Cryptorchidism	ORPHA:2728
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Microphthalmia, Ovarian neoplasm	OMIM:617883
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Cryptorchidism	OMIM:618494
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry...	ORPHA:2250
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume	OMIM:301108
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism	OMIM:616395
Gracile Bone Dysplasia	Microphthalmia, Micropenis, Aniridia	OMIM:602361
Marden-Walker Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Hypospadias	OMIM:248700
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplastic labia majora	ORPHA:2328
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Cryptorchidism, Septo-optic dysplasia, Vaginal atresia	ORPHA:3301
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Attention deficit hyperactivity disorder, Microphthalmia	OMIM:152950
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Type II diabetes mellitus	ORPHA:3191
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:244300
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Walker-Warburg Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Hypoplasia of penis	ORPHA:899
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circul...	OMIM:110100
Monosomy 18P	Hypothyroidism, Microphthalmia	ORPHA:1598
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe...	ORPHA:465508
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris, Dementia	OMIM:310600
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Cryptorchidism, Hypoplasia of the iris	OMIM:613001
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Cryptorchidism	ORPHA:369891
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Depression, Secondary amenorrhea, Hypergonadotropic hypogonadism...	OMIM:157640
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Martsolf Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
3Q29 Microdeletion Syndrome	Depression, Attention deficit hyperactivity disorder, Microphthalmia, Hypospadias	ORPHA:65286
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Fetal Alcohol Syndrome	Microphthalmia, Cognitive impairment	ORPHA:1915
Wolfram Syndrome 1	Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus	OMIM:222300
Fanconi Anemia, Complementation Group I	Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Mi...	OMIM:609053
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hyp...	OMIM:603457
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Attention deficit hyperactivity disorder, Microphthalmia, Supernumerary nipple	OMIM:620098
1Q21.1 Microdeletion Syndrome	Depression, Attention deficit hyperactivity disorder, Cryptorchidism, Microphthalmia	ORPHA:250989
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism	OMIM:619148
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Macroorchidism	OMIM:618874
Pseudotrisomy 13 Syndrome	Microphthalmia, Adrenal hypoplasia, Bicornuate uterus, Cryptorchidism, Micropenis	OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
Microphthalmia, Lenz Type	Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:568
Temtamy Syndrome	Microphthalmia	OMIM:218340
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Microphallus	OMIM:603467
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Abnorma...	ORPHA:2166
Meckel Syndrome, Type 4	Microphthalmia, Bile duct proliferation	OMIM:611134
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Fanconi Anemia, Complementation Group A	Microphthalmia, Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism	OMIM:227650
Mosaic Trisomy 9	Hypoplastic female external genitalia, Microphthalmia, Abnormal fallopian tube morphology, Hypopl...	ORPHA:99776
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:614230
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Fanconi Anemia, Complementation Group E	Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism	OMIM:600901
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Microphthalmia, Hypospadias	OMIM:616449
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Joubert Syndrome 14	Irritability, Microphthalmia	OMIM:614424
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:3412
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Rodrigues Blindness	Microphthalmia	OMIM:268320
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Microphthalmia	ORPHA:435638
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Cryptorchi...	OMIM:147791
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Fryns Syndrome	Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Decreased fertility	OMIM:234050
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Hypergonadotropic hypogonadism, Attention deficit hyperactivity...	OMIM:227646
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of ...	OMIM:309801
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple, Cognitive impairment	ORPHA:1236
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Adrenal hypoplasia, Panhyp...	OMIM:146510
Meckel Syndrome	Microphthalmia, Anophthalmia, Pancreatic fibrosis, Male pseudohermaphroditism, True hermaphroditi...	ORPHA:564
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Cohen Syndrome	Delayed puberty, Microphthalmia, Cryptorchidism	ORPHA:193
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Mental deterioration	OMIM:278730
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Dubowitz Syndrome	Microphthalmia, Hypospadias, Short attention span, Hypoplasia of the iris, Cryptorchidism	OMIM:223370
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Trisomy 18	Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia, Cognitive impai...	ORPHA:3380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Buphthalmos, Cryptor...	OMIM:236670
Fanconi Anemia, Complementation Group C	Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism	OMIM:227645
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Meckel Syndrome 14	Ambiguous genitalia, Microphthalmia, Aplasia of the uterus	OMIM:619879
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Phace Association	Optic nerve hypoplasia, Microphthalmia, Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Refsum Disease	Microphthalmia	ORPHA:773
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Diabetes insipidus, ...	ORPHA:2162
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Frontorhiny	Hypopituitarism, Microphthalmia, Diabetes insipidus	ORPHA:391474
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Joubert Syndrome 2	Hypoplastic male external genitalia, Microphthalmia	OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Mosaic Trisomy 1	Penile hypospadias, Microphthalmia, Micropenis	ORPHA:1692
Fanconi Anemia, Complementation Group L	Attention deficit hyperactivity disorder, Microphthalmia, Aplasia of the uterus, Micropenis	OMIM:614083
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Microphthalmia, Hypospadias, Cholelithiasis	ORPHA:464738
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis	ORPHA:251014
Fanconi Anemia	Microphthalmia, Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in m...	ORPHA:84
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Microphthalmia, Cryptorchidism	OMIM:616300
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus	OMIM:601186
Treacher-Collins Syndrome	Microphthalmia, Abnormality of the adrenal glands, Rectovaginal fistula, Hypoplasia of penis, Thy...	ORPHA:861
Bartsocas-Papas Syndrome 1	Microphthalmia, Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus,...	OMIM:263650
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal fallopian tube morphology...	ORPHA:2556
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor...	ORPHA:273
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Microphthalmia	OMIM:300952
Atelis Syndrome 2	Attention deficit hyperactivity disorder, Microphthalmia, Hyperinsulinemia, Elevated circulating ...	OMIM:620185
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Incontinentia Pigmenti	Attention deficit hyperactivity disorder, Microphthalmia, Supernumerary nipple, Cognitive impairment	ORPHA:464
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Ambiguous genitalia, female	OMIM:260660
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Hypogonadism, Microphthalmia	OMIM:268400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Attention deficit hyperactivity disorder, Cryptorc...	OMIM:616975
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Hypoplasia of the fovea, ...	OMIM:308300
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Hallermann-Streiff Syndrome	Hypothyroidism, Microphthalmia, Cryptorchidism	ORPHA:2108
Fraser Syndrome 2	Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Fryns Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl s...	OMIM:229850
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Charge Syndrome	Delayed puberty, Microphthalmia, Abnormality of the adrenal glands, Anterior hypopituitarism, Ano...	ORPHA:138
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Cognitive impairment	ORPHA:2092
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Cryptorchidism, Micropenis	OMIM:609945
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis	OMIM:617925
Monosomy 9P	Ambiguous genitalia, Microphthalmia, Cryptorchidism, Hypospadias	ORPHA:261112
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Supernumerary nipple	OMIM:613884
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph...	ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Microphthalmia, Cryptorchidism, Hypospadias	OMIM:616734
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Norrie Disease	Delayed puberty, Irritability, Microphthalmia, Erectile dysfunction, Aplasia/Hypoplasia of the le...	ORPHA:649
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Roberts Syndrome	Clitoral hypertrophy, Cryptorchidism, Microphthalmia, Long penis	ORPHA:3103
Tetraamelia Syndrome 1	Microphthalmia, Hypoplasia of the fallopian tube, Vaginal atresia, Adrenal gland agenesis, Absent...	OMIM:273395
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells	ORPHA:3063
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Ovarian carcinoma, Microphthalmia	OMIM:109400
22Q11.2 Deletion Syndrome	Microphthalmia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Depression, Hypoplasia of the th...	ORPHA:567
Pallister-Hall Syndrome	Microphthalmia, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpo...	ORPHA:672
Mosaic Variegated Aneuploidy Syndrome	Hypothyroidism, Ambiguous genitalia, Microphthalmia, Vaginal neoplasm	ORPHA:1052
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia	OMIM:601812
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Hypothyroidism, Microphthalmia, Cryptorchidism	OMIM:620005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Mend Syndrome	Microphthalmia, Cryptorchidism	ORPHA:401973
Fraser Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Bicor...	ORPHA:2052
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Adrenal hypoplasia, Bile ...	OMIM:249000
Cockayne Syndrome B	Microphthalmia, Cryptorchidism, Micropenis, Hypoplasia of the iris	OMIM:133540
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Perineal fistula, Rectovaginal fistula, Anophthalmia	ORPHA:2538
Monosomy 9Q22.3	Ovarian fibroma, Microphthalmia	ORPHA:77301
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism	OMIM:127000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism...	OMIM:620186
Histiocytoid Cardiomyopathy	Polycystic ovaries, Microphthalmia, Congenital aphakia	ORPHA:137675
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Bilateral microphthalmos, Abnormal circulating follicle-stimulating ho...	ORPHA:93325
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris	OMIM:251300
Cockayne Syndrome	Delayed puberty, Microphthalmia, Cognitive impairment, Absence of pubertal development, Diabetes ...	ORPHA:191
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, True anophthalmia	ORPHA:1106
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Hypothyroidism, Phthisis bulbi, Septate vagina, Crypto...	OMIM:300166
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia	ORPHA:2612
Aicardi Syndrome	Precocious puberty, Microphthalmia, Delayed puberty	ORPHA:50
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Cryptorchidism	ORPHA:468631
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Steinfeld Syndrome	Absent gallbladder, Microphthalmia	OMIM:184705
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Cryptorchidism	ORPHA:33364
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Hypothyroidism, Lens coloboma, Ectopic thyroid	ORPHA:42775
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia, Hypospadias	ORPHA:508498
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h...	OMIM:609049
Charge Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas...	OMIM:214800
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Cockayne Syndrome Type 3	Microphthalmia, Progressive neurologic deterioration, Cognitive impairment	ORPHA:90324
Renpenning Syndrome 1	Decreased testicular size, Phimosis, Microphthalmia, Hypospadias	OMIM:309500
Myhre Syndrome	Microphthalmia, Cryptorchidism	OMIM:139210
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Fontaine Progeroid Syndrome	Microphthalmia, Hypoplastic nipples, Absent nipple, Small scrotum, Cryptorchidism, Micropenis, Hy...	OMIM:612289
Yunis-Varon Syndrome	Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Cryptorchidism, Micr...	ORPHA:3472
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Adrenal hypoplasia, Female hypogonadism, ...	OMIM:607932
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Aicardi Syndrome	Precocious puberty, Microphthalmia	OMIM:304050
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Vag...	OMIM:219000
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism	OMIM:154500
Degcags Syndrome	Microphthalmia, Hypospadias, Chordee, Ambiguous genitalia, Cryptorchidism	OMIM:619488
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal...	ORPHA:857
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Clitoral hypoplas...	OMIM:305600
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hypospadias, Phimosis, Uni...	OMIM:613406
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, External genital hypoplasia, Anophthalmia	ORPHA:141099
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism	OMIM:610828
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Holoprosencephaly 1	Microphthalmia, Adrenal hypoplasia, Micropenis, Diabetes insipidus	OMIM:236100
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia	ORPHA:3186
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Neu-Laxova Syndrome 1	Microphthalmia, Bifid uterus, Cryptorchidism	OMIM:256520
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Bifid uterus	OMIM:236680
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Cryptorchidism	OMIM:309000
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism, Supernumerary nipple	OMIM:235730
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Ectopic thymus tissue, Cryptorchidism, Supernumerary n...	OMIM:113620
Neuroocular Syndrome	Attention deficit hyperactivity disorder, Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Long penis, Bicornuate ...	OMIM:268300
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
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	Bilateral microphthalmos, Low frustration tolerance, Optic nerve hypoplasia, Ectopic posterior pi...	ORPHA:508488
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Hypospadias, Bifid scrotum, Chordee, Webbed penis, Septate vagina, Cryptorchidism...	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Oligomenorrhea, Chordee, Webbed penis, Septate vagina...	ORPHA:2152
Holoprosencephaly 2	Microphthalmia, Adrenal hypoplasia, Anterior pituitary agenesis, Diabetes insipidus	OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Hypospadias, Bifid scrotum, Chordee, Webbed penis, Septate vagina, Cryptorchidism...	ORPHA:261552
Microphthalmia, Syndromic 1	Microphthalmia, Cryptorchidism, Hypospadias, Anophthalmia	OMIM:309800
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	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 21.0 Data