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Gene: Mvk MGI:107624

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Gene Summary

Name:
mevalonate kinase
Synonyms:
2310010A05Rik

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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
preweaning lethality, complete penetrance Mvkem1(IMPC)Tcp HOM   Early adult 0.00
hydrometra Mvkem1(IMPC)Tcp HET Early adult 0.00
microphthalmia Mvkem1(IMPC)Tcp HET Early adult 0.00
abnormal embryo size Mvkem1(IMPC)Tcp HET E9.5 0.00
small testis Mvkem1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Mvkem1(IMPC)Tcp HOM   E9.5 0.00
small seminal vesicle Mvkem1(IMPC)Tcp HET Early adult 0.00
small epididymis Mvkem1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to tooth bud stage Mvkem1(IMPC)Tcp HOM   E12.5 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel A FCS file(s)

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Immunophenotyping

Panel B FCS file(s)

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Eye Morphology

Images Ophthalmoscopy

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Histopathology

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Gross Pathology and Tissue Collection

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyper-Igd Syndrome
OMIM:260920
Hyperimmunoglobulinemia D With Periodic Fever
ORPHA:343
Mevalonic Aciduria
OMIM:610377
Disseminated Superficial Actinic Porokeratosis
ORPHA:79152
Porokeratosis Of Mibelli
ORPHA:735
Porokeratosis 3, Multiple Types
OMIM:175900
Mevalonic Aciduria
ORPHA:29

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
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
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
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
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Delayed puberty, Microphthalmia ORPHA:141333
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... OMIM:614841
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... OMIM:194072
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cryptorchidism OMIM:613730
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... OMIM:610125
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Cryptorchidism OMIM:600118
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... ORPHA:2470
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Pierpont Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:48431
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Bresek Syndrome
Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism ORPHA:85284
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Joubert Syndrome 37
Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism OMIM:619185
Congenital Fibrinogen Deficiency
Microphthalmia, Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:77298
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Small scrotum OMIM:610756
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia OMIM:617914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia OMIM:618652
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
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:139471
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
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... OMIM:202010
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia of the iris... ORPHA:3378
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty ORPHA:2788
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size OMIM:614222
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Ovarian neoplasm OMIM:617883
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis ORPHA:2328
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Small scrotum, Cryptorchidism ORPHA:2728
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Delayed puber... ORPHA:2510
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis, Cryptorchidism OMIM:243310
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism ORPHA:3301
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Micropenis OMIM:602361
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Hypospadias, Cryptorchidism ORPHA:494344
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism OMIM:244300
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
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
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Microphthalmia OMIM:616395
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
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
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism OMIM:248700
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterio... OMIM:206900
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism ORPHA:899
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis OMIM:264480
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Cryptorchidism OMIM:613001
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Vacterl With Hydrocephalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:3412
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
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
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Supernumerary nipple, Cryptorchidism OMIM:612530
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... OMIM:603457
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Mosaic Trisomy 9
Hypoplasia of penis, Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morpholog... ORPHA:99776
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Type II diabetes mellitus ORPHA:3191
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... OMIM:309801
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
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
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Cryptorchidism ORPHA:284160
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Microphthalmia OMIM:619148
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Clitoral hypertrophy OMIM:616449
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp... ORPHA:2166
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Martsolf Syndrome 1
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:212720
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Fanconi Anemia, Complementation Group F
Microphthalmia, Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism OMIM:603467
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Monosomy 18P
Microphthalmia, Hypothyroidism ORPHA:1598
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:614230
Microphthalmia, Lenz Type
Microphthalmia, Hypospadias, Cryptorchidism ORPHA:568
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Fanconi Anemia, Complementation Group A
Male infertility, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Fryns Syndrome
Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Fanconi Anemia, Complementation Group E
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:600901
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
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Fanconi Anemia, Complementation Group I
Microphthalmia, Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stim... OMIM:609053
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, Labial hypoplasia, Micropht... OMIM:147791
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
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
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea... ORPHA:3464
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus OMIM:601186
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Temtamy Syndrome
Microphthalmia OMIM:218340
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Adrenal gland agenesis, Microphthalm... OMIM:273395
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Meckel Syndrome
Anophthalmia, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male p... ORPHA:564
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Rodrigues Blindness
Microphthalmia OMIM:268320
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male external genitalia, Microph... OMIM:236670
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias ORPHA:65286
Cohen Syndrome
Microphthalmia, Delayed puberty, Cryptorchidism ORPHA:193
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Fanconi Anemia, Complementation Group C
Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227645
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Fanconi Anemia, Complementation Group L
Microphthalmia, Micropenis, Aplasia of the uterus OMIM:614083
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Joubert Syndrome 2
Microphthalmia, Hypoplastic male external genitalia OMIM:608091
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Aplasia/Hypoplasia of the iris, Azoos... ORPHA:84
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Mosaic Trisomy 1
Microphthalmia, Micropenis, Penile hypospadias ORPHA:1692
Cousin Syndrome
Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:250989
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Decreased fertility OMIM:234050
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Trisomy 18
Microphthalmia, Abnormal morphology of female internal genitalia, Cryptorchidism ORPHA:3380
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... ORPHA:861
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis OMIM:617925
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... ORPHA:2556
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Male urethral meatus stenosis, Cholelithiasis, Hypospadias ORPHA:464738
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Refsum Disease
Microphthalmia ORPHA:773
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Microphthalmia, Micropenis OMIM:227646
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
2Q31.1 Microdeletion Syndrome
Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism ORPHA:251014
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Phace Association
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism OMIM:606519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl s... OMIM:229850
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia, Hypospadias, Cryptorchidism OMIM:223370
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Joubert Syndrome 14
Microphthalmia OMIM:614424
Frontorhiny
Microphthalmia, Hypopituitarism, Diabetes insipidus ORPHA:391474
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis, Supernumerary nipple, Cryptorchidism OMIM:613884
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism OMIM:268400
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Diabetes mellitus, Cryptorchidism, Panhypopituitarism, Microph... ORPHA:2162
Incontinentia Pigmenti
Hypoplasia of the fovea, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Microphthalmi... OMIM:308300
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Roberts Syndrome
Microphthalmia, Long penis, Clitoral hypertrophy, Cryptorchidism ORPHA:3103
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:261112
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism OMIM:234100
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Microphthalmia, Hypothyroidism, Vaginal neoplasm ORPHA:1052
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Thyroid C cell hyperplasia OMIM:300952
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Microphthalmia, Micropenis OMIM:609945
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Abnormali... ORPHA:138
Basal Cell Nevus Syndrome 1
Microphthalmia, Ovarian fibroma, Ovarian carcinoma OMIM:109400
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, female, Amb... OMIM:249000
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the... ORPHA:672
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Hallermann-Streiff Syndrome
Microphthalmia, Hypothyroidism, Cryptorchidism ORPHA:2108
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia, Polycystic ovaries ORPHA:137675
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Abnormal circ... ORPHA:93325
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula ORPHA:2538
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma ORPHA:77301
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Small scrotum, Hypospadias, Cryptorchidism OMIM:616734
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Annular pancreas, Hypospadias, Cryptorchidism OMIM:616975
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Mend Syndrome
Microphthalmia, Cryptorchidism ORPHA:401973
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Adrenal insufficiency,... OMIM:300166
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Hypothyroidism, Cryptorchidism OMIM:620005
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
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... ORPHA:857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Micropenis, Cryptorchidism OMIM:133540
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Microphthalmia, Abnormal vagina morphology OMIM:236680
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Aicardi Syndrome
Precocious puberty, Microphthalmia, Delayed puberty ORPHA:50
Fraser Syndrome 1
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Abnormal thymus morphology, ... OMIM:219000
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
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
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cholelithiasis, Cryptorchidism, Hypoplasia of t... ORPHA:567
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
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Cryptorchidism, Buphthalmos, Abnormal circulating calcium-phosphate regulati... ORPHA:534
Atelis Syndrome 2
Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Norrie Disease
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cryptorchidism, Hypoplasia of the iris, Erecti... ORPHA:649
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Hypospadias, Optic nerve hypoplasia ORPHA:508498
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500
Incontinentia Pigmenti
Microphthalmia, Supernumerary nipple ORPHA:464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Holoprosencephaly 1
Microphthalmia, Micropenis, Diabetes insipidus, Adrenal hypoplasia OMIM:236100
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Decreased testicular size, Phimosis OMIM:309500
Yunis-Varon Syndrome
Hypospadias, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia majora, Microphthalmia, ... ORPHA:3472
Momo Syndrome
Abnormality of the thyroid gland, Bilateral microphthalmos ORPHA:2563
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
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum ORPHA:2612
Papillorenal Syndrome
Microphthalmia OMIM:120330
Stromme Syndrome
Microphthalmia, Optic nerve hypoplasia OMIM:243605
Steinfeld Syndrome
Microphthalmia, Absent gallbladder OMIM:184705
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia OMIM:127000
Aicardi Syndrome
Precocious puberty, Microphthalmia OMIM:304050
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia ORPHA:141099
Focal Dermal Hypoplasia
Anophthalmia, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Hypoplastic nipples, Lab... OMIM:305600
Myhre Syndrome
Microphthalmia, Cryptorchidism OMIM:139210
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microphthal... OMIM:607932
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism ORPHA:42775
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Neu-Laxova Syndrome 1
Cryptorchidism, Microphthalmia, Bifid uterus OMIM:256520
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Degcags Syndrome
Hypospadias, Cryptorchidism, Chordee, Ambiguous genitalia, Microphthalmia OMIM:619488
Cockayne Syndrome
Diabetes mellitus, Cryptorchidism, Absence of pubertal development, Delayed puberty, Microphthalmia ORPHA:191
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Cat Eye Syndrome
Microphthalmia OMIM:115470
Isolated Arrhinia
Microphthalmia ORPHA:1134
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism OMIM:610828
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Absent gallbladder ORPHA:3186
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Witteveen-Kolk Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph... OMIM:613406
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Cryptorchidism OMIM:309000
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia OMIM:235730
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicornuate uterus, Microphthalmia... OMIM:268300
Thrombocytopenia-Absent Radius Syndrome
Pancreatic cysts, Aplasia of the uterus OMIM:274000
Wolf-Hirschhorn Syndrome
Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus OMIM:194190
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse OMIM:130050
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Microphthalmia, Ectopic thymus t... OMIM:113620
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Okamoto Syndrome
Bifid uterus, Abnormally large globe ORPHA:2729
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Coffin-Siris Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus OMIM:135900
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord... ORPHA:261537
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord... ORPHA:2152
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Cryptorchidism, Hydrocele testis, Chord... ORPHA:261552
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Holoprosencephaly 2
Anterior pituitary agenesis, Microphthalmia, Diabetes insipidus, Adrenal hypoplasia OMIM:157170
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia, Hypospadias, Cryptorchidism OMIM:309800
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypoplastic labia majora, Aplas... OMIM:601803
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Porokeratosis 3, Multiple Types
OMIM:175900
Hyperimmunoglobulinemia D With Periodic Fever
ORPHA:343
Mevalonic Aciduria
ORPHA:29
Hyper-Igd Syndrome
OMIM:260920
Mevalonic Aciduria
OMIM:610377
Porokeratosis Of Mibelli
ORPHA:735
Disseminated Superficial Actinic Porokeratosis
ORPHA:79152

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 Mvk

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 Mvk.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines. Metabolites (August 2023) Mvkem1(IMPC)Tcp PMC10456929
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Mvkem1(IMPC)Tcp PMC8163790

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MGI Allele Allele Type Produced
Mvkem1(IMPC)Tcp Exon Deletion Mice, Tissue

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