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

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Immunophenotyping

Panel A FCS file(s)

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Gross Pathology and Tissue Collection

Images

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel B FCS file(s)

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Histopathology

Images

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Eye Morphology

Images Ophthalmoscopy

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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
Porokeratosis Of Mibelli
ORPHA:735
Disseminated Superficial Actinic Porokeratosis
ORPHA:79152
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
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... OMIM:273250
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism ORPHA:363741
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia OMIM:615524
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Unicornuate uterus OMIM:600776
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cryptorchidism, Hypogonadism OMIM:601794
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Nanophthalmos
Microphthalmia ORPHA:35612
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Aniridia, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str... OMIM:194072
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cryptorchidism OMIM:613730
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... OMIM:158330
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri... OMIM:610125
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Cryptorchidism OMIM:600118
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormality o... ORPHA:2470
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
Pierpont Syndrome
Microphthalmia, Cryptorchidism, Micropenis OMIM:602342
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u... ORPHA:432
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:48431
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Bresek Syndrome
Decreased testicular size, Optic nerve hypoplasia, Microphthalmia, Cryptorchidism ORPHA:85284
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Cryptorchidism ORPHA:77298
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Joubert Syndrome 37
Decreased testicular size, Microphthalmia, Cryptorchidism, Micropenis OMIM:619185
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Microphthalmia, Micropenis OMIM:610756
Congenital Fibrinogen Deficiency
Decreased testicular size, Hemorrhagic ovarian cyst, Microphthalmia, Micropenis ORPHA:335
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Hydrolethalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:2189
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Bilateral cryptorchidism OMIM:618652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:139471
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism ORPHA:228390
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism ORPHA:2505
Warburg Micro Syndrome 4
Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis OMIM:615663
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Trisomy 13
Microphthalmia, Anophthalmia, Displacement of the urethral meatus, Aplasia/Hypoplasia of the iris... ORPHA:3378
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... OMIM:615363
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Lumbar Syndrome
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... ORPHA:83628
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Vaginal atresia, Anophthalmia OMIM:248450
Moebius Syndrome
Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism OMIM:157900
Warburg Micro Syndrome 2
Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora OMIM:614225
Hemochromatosis, Type 1
Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Testicular ... OMIM:235200
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Fanconi Anemia, Complementation Group S
Ovarian carcinoma, Microphthalmia, Ovarian neoplasm OMIM:617883
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Warburg Micro Syndrome 3
Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis OMIM:614222
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circul... OMIM:110100
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Microphthalmia, Cryptorchidism ORPHA:2728
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Hypoplastic labia majora ORPHA:2328
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Micro Syndrome
Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplas... ORPHA:2510
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Microphthalmia, Decreased circulating para... OMIM:241410
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Baraitser-Winter Syndrome 1
Microphthalmia, Cryptorchidism, Micropenis OMIM:243310
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry... ORPHA:2250
Gracile Bone Dysplasia
Microphthalmia, Micropenis, Aniridia OMIM:602361
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Cryptorchidism, Septo-optic dysplasia, Vaginal atresia ORPHA:3301
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Cryptorchidism, Hypospadias ORPHA:494344
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Kapur-Toriello Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Hypoplastic labia majora OMIM:244300
Mayer-Rokitansky-Küster-Hauser Syndrome
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... ORPHA:3109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Congenital Toxoplasmosis
Microphthalmia ORPHA:858
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Bilateral cryptorchidism OMIM:616395
Estrogen Resistance Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Temtamy Syndrome
Microphthalmia ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
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
Lissencephaly 8
Microphthalmia OMIM:617255
Marden-Walker Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Hypospadias OMIM:248700
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,... OMIM:206900
Walker-Warburg Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Hypoplasia of penis ORPHA:899
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Hypospadias, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hyp... OMIM:603457
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Cryptorchidism, Hypoplasia of the iris OMIM:613001
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno... OMIM:146255
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia OMIM:615877
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
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Supernumerary nipple OMIM:612530
Pseudotrisomy 13 Syndrome
Microphthalmia, Adrenal hypoplasia, Bicornuate uterus, Cryptorchidism, Micropenis OMIM:264480
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Hypospadias, Macroorchidism OMIM:618874
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe... ORPHA:465508
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Decreased pineal volume OMIM:301108
Vacterl With Hydrocephalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ... OMIM:147250
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Cryptorchidism ORPHA:369891
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Type II diabetes mellitus ORPHA:3191
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of ... OMIM:309801
Townes-Brocks Syndrome 2
Bifid uterus, Hypospadias, Rectovaginal fistula OMIM:617466
Mosaic Trisomy 9
Hypoplastic female external genitalia, Microphthalmia, Abnormal fallopian tube morphology, Hypopl... ORPHA:99776
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Martsolf Syndrome 1
Microphthalmia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism OMIM:212720
8Q21.11 Microdeletion Syndrome
Microphthalmia, Cryptorchidism, Hypoplasia of penis ORPHA:284160
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Microphallus OMIM:603467
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Abnorma... ORPHA:2166
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism OMIM:619148
Microphthalmia, Lenz Type
Microphthalmia, Cryptorchidism, Hypospadias ORPHA:568
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Basel-Vanagaite-Smirin-Yosef Syndrome
Clitoral hypertrophy, Microphthalmia, Hypospadias OMIM:616449
Fanconi Anemia, Complementation Group A
Microphthalmia, Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Monosomy 18P
Hypothyroidism, Microphthalmia ORPHA:1598
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cryptorchidism, Micropenis OMIM:614230
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Fanconi Anemia, Complementation Group E
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:600901
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Ohdo Syndrome, X-Linked
Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis OMIM:300895
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Fryns Syndrome
Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Fanconi Anemia, Complementation Group I
Hypothyroidism, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Mi... OMIM:609053
Jacobsen Syndrome
Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Cryptorchi... OMIM:147791
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Vaginal atre... ORPHA:2237
Oeis Complex
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... OMIM:258040
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus OMIM:601186
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Papillary cystadenoma of the epididymis, Epididymal c... OMIM:193300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Frontonasal Dysplasia 2
Microphthalmia, Bilateral cryptorchidism OMIM:613451
Temtamy Syndrome
Microphthalmia OMIM:218340
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atre... OMIM:137920
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Meckel Syndrome
Microphthalmia, Anophthalmia, Pancreatic fibrosis, Male pseudohermaphroditism, True hermaphroditi... ORPHA:564
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
Rodrigues Blindness
Microphthalmia OMIM:268320
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Fanconi Anemia, Complementation Group C
Microphthalmia, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227645
Cohen Syndrome
Delayed puberty, Microphthalmia, Cryptorchidism ORPHA:193
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Microphthalmia, Adrenal hypoplasia, Panhyp... OMIM:146510
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Tetraamelia Syndrome 1
Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Vaginal atresia, Adr... OMIM:273395
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Buphthalmos, Cryptor... OMIM:236670
Joubert Syndrome 2
Hypoplastic male external genitalia, Microphthalmia OMIM:608091
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias ORPHA:65286
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:250989
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Fanconi Anemia, Complementation Group L
Microphthalmia, Aplasia of the uterus, Micropenis OMIM:614083
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Decreased fertility OMIM:234050
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal fallopian tube morphology... ORPHA:2556
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Bartsocas-Papas Syndrome 1
Microphthalmia, Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus,... OMIM:263650
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Fanconi Anemia
Microphthalmia, Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in m... ORPHA:84
Mosaic Trisomy 1
Penile hypospadias, Microphthalmia, Micropenis ORPHA:1692
Cousin Syndrome
Ambiguous genitalia, male, Microphthalmia, Ambiguous genitalia, female OMIM:260660
Treacher-Collins Syndrome
Microphthalmia, Abnormality of the adrenal glands, Rectovaginal fistula, Hypoplasia of penis, Thy... ORPHA:861
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Trisomy 18
Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia ORPHA:3380
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis OMIM:617925
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
2Q31.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituitary axis ORPHA:251014
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Microphthalmia, Hypospadias, Cholelithiasis ORPHA:464738
Fanconi Anemia, Complementation Group D2
Annular pancreas, Microphthalmia, Hypergonadotropic hypogonadism, Cryptorchidism, Micropenis OMIM:227646
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Refsum Disease
Microphthalmia ORPHA:773
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Phace Association
Optic nerve hypoplasia, Microphthalmia, Lingual thyroid, Congenital hypothyroidism OMIM:606519
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Dubowitz Syndrome
Microphthalmia, Cryptorchidism, Hypospadias, Hypoplasia of the iris OMIM:223370
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Cryptorchidism, Hypogonadism, Microphthalmia OMIM:268400
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Supernumerary nipple OMIM:613884
Frontorhiny
Hypopituitarism, Microphthalmia, Diabetes insipidus ORPHA:391474
Fryns Syndrome
Microphthalmia, Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl s... OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Holoprosencephaly
Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Diabetes insipidus, ... ORPHA:2162
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Fraser Syndrome
Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Bicor... ORPHA:2052
Joubert Syndrome 14
Microphthalmia OMIM:614424
Limb-Mammary Syndrome
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... ORPHA:69085
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism OMIM:234100
Hallermann-Streiff Syndrome
Hypothyroidism, Microphthalmia, Cryptorchidism ORPHA:2108
Incontinentia Pigmenti
Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Hypoplasia of the fovea, ... OMIM:308300
Mosaic Variegated Aneuploidy Syndrome
Hypothyroidism, Ambiguous genitalia, Microphthalmia, Vaginal neoplasm ORPHA:1052
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Microphthalmia OMIM:300952
Roberts Syndrome
Clitoral hypertrophy, Cryptorchidism, Microphthalmia, Long penis ORPHA:3103
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Autosomal Dominant Kenny-Caffey Syndrome
Decreased testicular size, Bilateral microphthalmos, Abnormal circulating follicle-stimulating ho... ORPHA:93325
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Cryptorchidism, Micropenis OMIM:609945
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Male sexual dysf... ORPHA:322
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Cryptorchidism, Hypospadias ORPHA:261112
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Ovarian carcinoma, Microphthalmia OMIM:109400
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Pallister-Hall Syndrome
Microphthalmia, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpo... ORPHA:672
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Perineal fistula, Rectovaginal fistula, Anophthalmia ORPHA:2538
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Microphthalmia, Cryptorchidism, Hypospadias OMIM:616734
Histiocytoid Cardiomyopathy
Polycystic ovaries, Microphthalmia, Congenital aphakia ORPHA:137675
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Adrenal hypoplasia, Bile ... OMIM:249000
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Mend Syndrome
Microphthalmia, Cryptorchidism ORPHA:401973
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Monosomy 9Q22.3
Ovarian fibroma, Microphthalmia ORPHA:77301
Charge Syndrome
Delayed puberty, Microphthalmia, Abnormality of the adrenal glands, Anterior hypopituitarism, Ano... ORPHA:138
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple ORPHA:1521
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Cryptorchidism, Hypospadias, Microphthalmia OMIM:616975
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Supernumerary nipple ORPHA:1236
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi... OMIM:610829
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Hypothyroidism, Microphthalmia, Cryptorchidism OMIM:620005
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Anophthalmia, Hypothyroidism, Phthisis bulbi, Septate vagina, Crypto... OMIM:300166
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet ... ORPHA:892
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism... OMIM:620186
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism OMIM:614527
Cardiac-Urogenital Syndrome
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... OMIM:618280
Cockayne Syndrome B
Microphthalmia, Cryptorchidism, Micropenis, Hypoplasia of the iris OMIM:133540
Microphthalmia With Limb Anomalies
Microphthalmia, Cryptorchidism, True anophthalmia ORPHA:1106
Aicardi Syndrome
Precocious puberty, Microphthalmia, Delayed puberty ORPHA:50
Townes-Brocks Syndrome
Delayed puberty, Microphthalmia, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal... ORPHA:857
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Bifid uterus OMIM:236680
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Hypospadias, Optic nerve hypoplasia, Microphallus, Cryptorchidism ORPHA:468631
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Treacher Collins Syndrome 1
Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism OMIM:154500
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Fraser Syndrome 1
Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Vag... OMIM:219000
Norrie Disease
Delayed puberty, Microphthalmia, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Hypoplasia... ORPHA:649
Trichothiodystrophy
Gonadal dysgenesis, Bilateral microphthalmos, Cryptorchidism ORPHA:33364
Premature Aging Syndrome, Penttinen Type
Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia OMIM:601812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... ORPHA:273
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Hyperinsulinemia OMIM:620185
22Q11.2 Deletion Syndrome
Microphthalmia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Hypoplasia of the thymus, Hypoth... ORPHA:567
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Incontinentia Pigmenti
Microphthalmia, Supernumerary nipple ORPHA:464
Holoprosencephaly 1
Microphthalmia, Adrenal hypoplasia, Micropenis, Diabetes insipidus OMIM:236100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia, Hypospadias ORPHA:508498
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph... ORPHA:534
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Renpenning Syndrome 1
Decreased testicular size, Phimosis, Microphthalmia, Hypospadias OMIM:309500
Charge Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, External genital hypoplas... OMIM:214800
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Hypoparathyroidism OMIM:127000
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris OMIM:251300
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia OMIM:612109
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Yunis-Varon Syndrome
Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Cryptorchidism, Micr... ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Fontaine Progeroid Syndrome
Microphthalmia, Hypoplastic nipples, Absent nipple, Small scrotum, Cryptorchidism, Micropenis, Hy... OMIM:612289
Microphthalmia, Syndromic 6
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Adrenal hypoplasia, Female hypogonadism, ... OMIM:607932
Linear Nevus Sebaceus Syndrome
Adenoma sebaceum, Microphthalmia ORPHA:2612
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris ORPHA:2092
Myhre Syndrome
Microphthalmia, Cryptorchidism OMIM:139210
Papillorenal Syndrome
Microphthalmia OMIM:120330
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Aicardi Syndrome
Precocious puberty, Microphthalmia OMIM:304050
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Steinfeld Syndrome
Absent gallbladder, Microphthalmia OMIM:184705
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Hypothyroidism, Lens coloboma, Ectopic thyroid ORPHA:42775
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, External genital hypoplasia, Anophthalmia ORPHA:141099
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h... OMIM:609049
Cockayne Syndrome
Delayed puberty, Microphthalmia, Absence of pubertal development, Diabetes mellitus, Cryptorchidism ORPHA:191
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipples, Clitoral hypoplas... OMIM:305600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Neu-Laxova Syndrome 1
Microphthalmia, Bifid uterus, Cryptorchidism OMIM:256520
Degcags Syndrome
Microphthalmia, Hypospadias, Chordee, Ambiguous genitalia, Cryptorchidism OMIM:619488
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Cat Eye Syndrome
Microphthalmia OMIM:115470
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Panhypopituitarism OMIM:610828
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Cryptorchidism OMIM:309000
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Microphthalmia, Hypospadias, Phimosis, Mic... OMIM:613406
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Microphthalmia ORPHA:3186
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Epididymal cyst, Cryptorchidism OMIM:136140
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Precocious puberty, Rieger anomaly, Cryptorchidism OMIM:194190
Mowat-Wilson Syndrome
Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism, Supernumerary nipple OMIM:235730
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Long penis, Bicornuate ... OMIM:268300
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Pancreatic cysts OMIM:274000
Cockayne Syndrome Type 3
Microphthalmia ORPHA:90324
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Traboulsi Syndrome
Microphthalmia OMIM:601552
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Ectopic thymus tissue, Cryptorchidism, Supernumerary n... OMIM:113620
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... OMIM:276820
Okamoto Syndrome
Bifid uterus, Abnormally large globe ORPHA:2729
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism ORPHA:2044
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut... OMIM:107480
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias OMIM:135900
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
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
Monosomy 13Q14
Microphthalmia ORPHA:1587
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
Microphthalmia, Hypospadias, Bifid scrotum, Chordee, Webbed penis, Septate vagina, Cryptorchidism... ORPHA:261552
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Neuroocular Syndrome
Microphthalmia, Hypoplasia of the fovea, Lens coloboma OMIM:619539
Holoprosencephaly 2
Microphthalmia, Adrenal hypoplasia, Anterior pituitary agenesis, Diabetes insipidus OMIM:157170
Microphthalmia, Syndromic 1
Microphthalmia, Cryptorchidism, Hypospadias, Anophthalmia OMIM:309800
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos, Ectopic posterior pituitary ORPHA:508488
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism ORPHA:286
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... OMIM:601803
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris OMIM:175780
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 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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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