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Gene: Tkt MGI:105992

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Gene Summary

Name:
transketolase
Synonyms:
p68

Order Alleles

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 Tktem1(IMPC)H HOM   E9.5 0.00
preweaning lethality, complete penetrance Tktem1(IMPC)H HOM   Early adult 0.00
embryonic lethality prior to tooth bud stage Tktem1(IMPC)H 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.

Phenotype associated images not available

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Proportionate short ... ORPHA:488618
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Proportionate short stature OMIM:617044

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Gombo Syndrome
Microphthalmia, Delayed puberty, Abnormal heart morphology OMIM:233270
Biemond Syndrome Type 2
Hypospadias, Short stature, Hypogonadotropic hypogonadism, Obesity, Hypogonadism, Delayed puberty... ORPHA:141333
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia, Large for gestational age ORPHA:2432
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Hypogonadism, Short stature ORPHA:2528
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypopla... OMIM:615524
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Mmep Syndrome
Microphthalmia, Ventricular septal defect, Cryptorchidism ORPHA:3434
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Matthew-Wood Syndrome
Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplas... ORPHA:2470
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic r... OMIM:613730
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice... ORPHA:858
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia, Small for gestational age OMIM:278780
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia, Uraciluria, Failure to thrive OMIM:274270
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Arthrogryposis multiplex congenita, Intrauterine growth retardation OMIM:616570
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Postnatal growth retar... OMIM:232700
2Q24 Microdeletion Syndrome
Small for gestational age, Camptodactyly of finger, Growth delay, Microphthalmia, Failure to thrive ORPHA:1617
X-Linked Intellectual Disability, Van Esch Type
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Cofs Syndrome
Short stature, Camptodactyly of finger, Hypogonadism, Microphthalmia, Arthrogryposis multiplex co... ORPHA:1466
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Adams-Oliver Syndrome 4
Atrial septal defect, Microphthalmia, Umbilical hernia, Ventricular septal defect OMIM:615297
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen... OMIM:610198
Congenital Varicella Syndrome
Atypical scarring of skin, Microphthalmia, Intrauterine growth retardation ORPHA:291
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia ORPHA:363741
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Dilated cardiomyopathy, Elevated circulating alanine ... OMIM:618805
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Seckel Syndrome 2
Short stature, Hypospadias, Small for gestational age, Ectopic kidney, Growth delay, Microphthalmia OMIM:606744
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Joubert Syndrome 37
Hepatomegaly, Short stature, Cryptorchidism, Obesity, Hydronephrosis, Microphthalmia, Micropenis,... OMIM:619185
Pierpont Syndrome
Short stature, Cryptorchidism, Decreased body weight, Microphthalmia, Micropenis, Failure to thrive OMIM:602342
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Warburg Micro Syndrome 1
Short stature, External genital hypoplasia, Cryptorchidism, Microphthalmia, Failure to thrive OMIM:600118
Pierpont Syndrome
Microphthalmia, Abnormal subcutaneous fat tissue distribution, Small for gestational age, Cryptor... ORPHA:487825
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Short stature, Biliary tract abnormality, Obesity, Membranous subvalvular aortic... ORPHA:3191
Nanophthalmos
Microphthalmia ORPHA:35612
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Jaundice, Aplasia/Hypoplasi... ORPHA:290
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Growth delay, Vesicoureteral reflux, Mi... ORPHA:85284
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Small for gestational age, Camptodactyly of finger, Growth delay, Microphthalmia, ... OMIM:610756
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Camptodactyly of finger, Hypogonadotropic hypogonadism, Microphthalmia, Intrauteri... ORPHA:48431
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Abnormal external genitalia, Ventricular septal defect ORPHA:3469
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Cat-Eye Syndrome
Microphthalmia, Short stature, Hydronephrosis, Intrauterine growth retardation ORPHA:195
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Short stature, Congenital diaphragmatic hernia, Atrial septal defect, Mi... OMIM:300887
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nanophthalmos 4
Microphthalmia OMIM:615972
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Micropht... OMIM:618652
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Meckel Syndrome, Type 8
Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthal... OMIM:613885
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Short stature, Bilateral microphthalmos, Unilateral microphthalmos, Horses... OMIM:619318
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Short stature, Postnatal growth retardation, Cryptorchidism, Micropenis, M... OMIM:243310
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Short stature, Decreased response to growth ho... OMIM:609053
Trisomy 13
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Abn... ORPHA:3378
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular at... ORPHA:465508
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Flexion contracture, Decreased body weight, Microphthalmia... OMIM:614833
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Postnatal growth retardation, Cryptorchidism, Multiple bladder divert... ORPHA:2728
Warburg Micro Syndrome 4
Small scrotum, Short stature, Cryptorchidism, Flexion contracture, Severe postnatal growth retard... OMIM:615663
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Cryptorchidism, Flexion contracture, Elbow flexion ... OMIM:214150
Hsd10 Disease
Postnatal growth retardation, Abnormal urinary acylglycine profile, Abnormal social behavior, Ele... ORPHA:391417
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Rhizomelia, Ventricular septal defect, Ambiguous genitalia, Microphthalmia ORPHA:93267
Marden-Walker Syndrome
Inguinal hernia, Hypospadias, Dextrocardia, Postnatal growth retardation, Cryptorchidism, Renal h... OMIM:248700
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Atrial septal defect, Pelvic kidney, Single ventri... OMIM:601186
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Inguinal hernia, Hypogonadotropic hypogonadism ORPHA:1135
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Lipoma, Subvalvular aortic ste... OMIM:613001
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Hypospadias, Postnatal growth retardation, Cryptorchidism, Abnormal he... ORPHA:494344
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Joubert Syndrome 22
Microphthalmia, Renal hypoplasia, Intrauterine growth retardation OMIM:615665
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen... ORPHA:335
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia OMIM:120433
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ... OMIM:618494
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Cerebrooculofacioskeletal Syndrome 4
Short stature, Camptodactyly of finger, Failure to thrive in infancy, Bilateral microphthalmos, E... OMIM:610758
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryptorchidism, Growth... ORPHA:77298
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Vesicourete... OMIM:603467
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism,... OMIM:610125
Gracile Bone Dysplasia
Short stature, Asplenia, Hypoplastic spleen, Aniridia, Microphthalmia, Micropenis, Failure to thrive OMIM:602361
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia, Micropenis OMIM:308350
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Ventricular septal defect, Hernia OMIM:602501
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Obesity ORPHA:444002
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Short stature, Cryptorchidism, Bilateral microphthalmos, Abnormal hear... ORPHA:369891
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Failure to thrive, Unilateral microphthalmos OMIM:615085
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agene... OMIM:617914
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Cardiomyopathy, Flexion contracture OMIM:613155
Sandestig-Stefanova Syndrome
Small for gestational age, Muscular ventricular septal defect, Perimembranous ventricular septal ... OMIM:618804
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Tetralogy of Fallot, Camptodactyly, Microphthalmia... OMIM:136760
Meckel Syndrome, Type 4
Ventricular septal defect, Renal cyst, Bile duct proliferation, Atrial septal defect, Microphthal... OMIM:611134
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Hydroureter, Camptodactyly of finger ORPHA:2547
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Postnatal growth retardation, Growth delay, Camptodactyl... OMIM:206920
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Lens coloboma, Renal hypoplasia, Umbilical hernia, Joint contracture of the 4th ... OMIM:618914
Meckel Syndrome, Type 2
Omphalocele, Renal cyst, Bile duct proliferation, Microphthalmia, Intrauterine growth retardation OMIM:603194
Multiple Benign Circumferential Skin Creases On Limbs
Inguinal hernia, Small scrotum, Short stature, Hypospadias, Cryptorchidism, Umbilical hernia, Abn... ORPHA:2505
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Hypospadias, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Ena... OMIM:618874
Fanconi Anemia, Complementation Group A
Male infertility, Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Ectop... OMIM:227650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Short stature OMIM:251270
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ca... ORPHA:99776
Warburg Micro Syndrome 3
Small scrotum, Postnatal growth retardation, Hypoplastic labia minora, Flexion contracture, Micro... OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Warburg Micro Syndrome 2
Small scrotum, Postnatal growth retardation, Cryptorchidism, Flexion contracture, Hypoplastic lab... OMIM:614225
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Cryptorchidism, Hypogonadism, Microphthalmia, Intrauterine growth retardation ORPHA:228390
Trichothiodystrophy 3, Photosensitive
Short stature, Bilateral cryptorchidism, Microphthalmia, Failure to thrive, Intrauterine growth r... OMIM:616395
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Hypoplastic labia majora, Atr... OMIM:244300
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Ectopic kidney, Cryptor... OMIM:600901
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia, Atrioventricular canal defect, Cryptorchidism OMIM:619135
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Moebius Syndrome
Hypogonadotropic hypogonadism, Camptodactyly, Microphthalmia, Micropenis, Arthrogryposis multiple... OMIM:157900
Ring Chromosome 10 Syndrome
Microphthalmia, Cachexia, Intrauterine growth retardation ORPHA:1438
Fanconi Anemia, Complementation Group S
Short stature, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia, Failure to thrive OMIM:617883
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Pseudotrisomy 13 Syndrome
Omphalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atrioventricul... OMIM:264480
Kapur-Toriello Syndrome
Hypoplasia of penis, Failure to thrive, Ventricular septal defect, Hypoplastic labia majora, Micr... ORPHA:2328
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Camptodactyly, Knee flexion contracture OMIM:619694
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
48,Xxxy Syndrome
Hypoplasia of penis, Inguinal hernia, Small scrotum, Abnormal dental enamel morphology, Cryptorch... ORPHA:96263
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Short stature, Disproportionate short-... ORPHA:85194
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Short stature, Isosexual precocious puberty ORPHA:2788
Cat Eye Syndrome
Ventricular septal defect, Short stature, Biliary atresia, Vesicoureteral reflux, Horseshoe kidne... OMIM:115470
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Short stature, Hypergonadotropic hypogonadism, Small for gestational a... OMIM:227645
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia ORPHA:1473
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Hartsfield Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2117
Micro Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia... ORPHA:2510
1Q21.1 Microdeletion Syndrome
Inguinal hernia, Short stature, Cryptorchidism, Abnormal cardiac septum morphology, Vesicouretera... ORPHA:250989
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Hypothyroidism, Cryptorchid... OMIM:620005
Aarskog-Scott Syndrome
Inguinal hernia, Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptor... OMIM:305400
Wolfram Syndrome 1
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Growth delay, Cardiomyopa... OMIM:222300
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Short statu... OMIM:206900
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Short stature, Hypospadias, Small for gestational age, Cryptorchidism, Penoscrotal... OMIM:619148
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microphthalmia, Failure to thrive OMIM:612379
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611561
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Bilateral microphthalmos, Severe postnatal growth retardation, Multiple lipom... ORPHA:2399
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Flexion contracture, Clitoral hypoplasia,... OMIM:147791
Fetal Alcohol Syndrome
Short stature, Congenital diaphragmatic hernia, Atrial septal defect, Microphthalmia, Intrauterin... ORPHA:1915
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, ... OMIM:612530
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Ventricular septal defect,... OMIM:146510
Fg Syndrome Type 1
Inguinal hernia, Short stature, Optic nerve hypoplasia, Progressive flexion contractures, Hypospa... ORPHA:93932
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Testicular atrophy, Congenital diaphragmatic hernia OMIM:601163
Trisomy 18
Omphalocele, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Camptodac... ORPHA:3380
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy, Cirrhosis OMIM:613987
Temtamy Syndrome
Microphthalmia ORPHA:1777
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Microphthalmia, Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Lissencephaly 8
Microphthalmia OMIM:617255
Fanconi Anemia
Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Abnormality of the hyp... ORPHA:84
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Martsolf Syndrome 1
Inguinal hernia, Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Cardiomyopathy, Mi... OMIM:212720
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Tetralogy ... ORPHA:974
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Crossed fused renal ectopia, Hiatus her... ORPHA:2538
Cohen Syndrome
Ventricular septal defect, Short stature, Failure to thrive in infancy, Cryptorchidism, Obesity, ... ORPHA:193
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Microphthalmia, Ventricular septal defect, Decreased fertility OMIM:234050
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Trichothiodystrophy 1, Photosensitive
Short stature, Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Hypog... OMIM:601675
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:139471
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Severe short stature, Sma... OMIM:133540
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Hypo... OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Fryns Syndrome
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorc... ORPHA:2059
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature, Decreased body weight OMIM:617306
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Fanconi Anemia, Complementation Group D2
Short stature, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptor... OMIM:227646
Myoclonic-Astatic Epilepsy
Microphthalmia, Impaired social interactions ORPHA:1942
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, True hermaphr... ORPHA:564
Papillorenal Syndrome
Multicystic kidney dysplasia, Short stature, Proteinuria, Absence of renal corticomedullary diffe... OMIM:120330
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia, Joint contracture of the hand, Camptodactyly OMIM:611961
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Short stature, Proteinuria, Hiatus hernia, Stage 5 chronic kidney di... OMIM:617729
Microphthalmia, Lenz Type
Hydroureter, Short stature, Camptodactyly of finger, Hypospadias, Cryptorchidism, Microphthalmia,... ORPHA:568
Bone Marrow Failure Syndrome 5
Growth delay, Hypogonadism, Short stature, Testicular atrophy OMIM:618165
Monosomy 18P
Microphthalmia, Short stature, Hypothyroidism ORPHA:1598
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Scarring alopecia of scalp, Flexion contracture, Severe postnatal growth retardati... ORPHA:35173
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Atrial septal defect, Microphthalmia, Hy... OMIM:616449
Mend Syndrome
Failure to thrive, Short stature, Cryptorchidism, Abnormal heart morphology, Microphthalmia, Aort... ORPHA:401973
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Focal Dermal Hypoplasia
Omphalocele, Acute hepatic failure, Inguinal hernia, Multicystic kidney dysplasia, Ventricular se... ORPHA:2092
Mosaic Trisomy 1
Omphalocele, Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital dia... ORPHA:1692
Solitary Median Maxillary Central Incisor
Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Microphthalmi... OMIM:147250
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia, Ventricular septal defect, Camptodactyly of finger OMIM:616920
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Short stature, Small for gestational age, Prote... OMIM:251300
Lamb-Shaffer Syndrome
Abnormal social behavior, Mild postnatal growth retardation ORPHA:530983
Ohdo Syndrome, X-Linked
Inguinal hernia, Small scrotum, Hiatus hernia, Cryptorchidism, Shawl scrotum, Microphthalmia, Mic... OMIM:300895
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Lipomas of eyelids OMIM:167730
Refsum Disease
Microphthalmia, Cardiomyopathy, Renal insufficiency, Splenomegaly ORPHA:773
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Vaginal atresia ORPHA:3301
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Inguinal hernia, Anophthalmia, Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, ... ORPHA:2250
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postnatal growth retardation, Microphthalmia, Failure to thrive, Hydronephrosis OMIM:302960
Joubert Syndrome 14
Growth delay, Microphthalmia, Ventricular septal defect, Renal cyst OMIM:614424
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Failure to thrive, Anophthalmia, Severe short stature, Abnormal dental... ORPHA:2556
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Cardiomyopathy, Optic nerve hypoplasia ORPHA:370959
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia, Pelvic kidney OMIM:617244
Holoprosencephaly-Postaxial Polydactyly Syndrome
Omphalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Abnormal cardi... ORPHA:2166
Chromosome 8Q21.11 Deletion Syndrome
Cryptorchidism, Growth delay, Camptodactyly, Microphthalmia, Micropenis OMIM:614230
3Q29 Microdeletion Syndrome
Hypospadias, Horseshoe kidney, Subvalvular aortic stenosis, Microphthalmia, Failure to thrive ORPHA:65286
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Knee flexion contracture, Pulmonic stenosis, Atrial septal defect, Mic... ORPHA:435638
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Flexion contracture, Abnormally large globe OMIM:615249
3Q29 Microduplication Syndrome
Ventricular septal defect, Obesity, Aniridia, Microphthalmia, Camptodactyly of toe ORPHA:251038
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Fryns Syndrome
Omphalocele, Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal d... OMIM:229850
Vacterl With Hydrocephalus
Inguinal hernia, Anophthalmia, Femoral hernia, Cryptorchidism, Abnormal fallopian tube morphology... ORPHA:3412
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism ORPHA:899
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Microphthalmia, ... OMIM:300952
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Atrial septal defect, Vesicoureteral reflux,... ORPHA:567
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Oligosacchariduria ORPHA:163649
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia, Corneal scarring OMIM:212550
Oculofaciocardiodental Syndrome
Mitral valve prolapse, Abnormal cardiac septum morphology, Flexion contracture of the 2nd toe, Mi... ORPHA:2712
Microphthalmia, Syndromic 2
Anophthalmia, Flexion contracture, Atrial septal defect, Contracture of the proximal interphalang... OMIM:300166
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Growth delay, Vesicoureteral reflux OMIM:120200
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Microphtha... ORPHA:137675
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Ventricular septal defect, Hypospadias, Male urethral meatus stenosis, Atrial se... ORPHA:464738
Holoprosencephaly
Omphalocele, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary val... ORPHA:2162
Meckel Syndrome 14
Hepatic fibrosis, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Microp... OMIM:619879
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Short stature, Abnormal heart morphology OMIM:618571
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Intrauterine growth retardation ORPHA:1352
Pelvis-Shoulder Dysplasia
Microphthalmia, Short stature OMIM:169550
Cockayne Syndrome
Urinary incontinence, Congenital contracture, Hepatomegaly, Cryptorchidism, Renal hypoplasia, Con... ORPHA:191
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Renal insufficiency, Short stature, Camptodactyly of finger, Hyperphosphaturia... OMIM:309000
2Q31.1 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Short stature, Camptodactyly of finger, Cryptorchidis... ORPHA:251014
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Short stature, Horseshoe kidney, Camptodactyly, Mic... OMIM:272950
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Rhizomelia, Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Micro... OMIM:616300
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia OMIM:614526
Frontofacionasal Dysplasia
Microphthalmia, Short stature ORPHA:1791
Dubowitz Syndrome
Inguinal hernia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Hypopl... OMIM:223370
Meckel Syndrome, Type 1
Omphalocele, Accessory spleen, Camptodactyly of finger, External genital hypoplasia, Adrenal hypo... OMIM:249000
Xeroderma Pigmentosum, Complementation Group B
Hypogonadism, Microphthalmia, Short stature OMIM:610651
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Mild postna... ORPHA:90324
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Transposition of the great arte... OMIM:253800
Joubert Syndrome 2
Renal insufficiency, Renal cyst, Nephronophthisis, Hypoplastic male external genitalia, Microphth... OMIM:608091
Chromosome 13Q14 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Growth delay, U... OMIM:613884
Nance-Horan Syndrome
Microphthalmia ORPHA:627
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism ORPHA:284160
Duane-Radial Ray Syndrome
Optic disc hypoplasia, Ventricular septal defect, Vesicoureteral reflux, Renal hypoplasia, Horses... OMIM:607323
Bartsocas-Papas Syndrome 1
Omphalocele, Inguinal hernia, Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney... OMIM:263650
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia, Sho... ORPHA:508498
Temtamy Syndrome
Microphthalmia OMIM:218340
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
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici... ORPHA:672
Otodental Syndrome
Microphthalmia, Lens coloboma, Abnormal dental enamel morphology ORPHA:2791
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Vesicoureteral ref... ORPHA:857
Charge Syndrome
Bifid scrotum, Anophthalmia, Short stature, Hypogonadotropic hypogonadism, Postnatal growth retar... ORPHA:138
Cousin Syndrome
Rhizomelia, Disproportionate short stature, Ambiguous genitalia, female, Ambiguous genitalia, mal... OMIM:260660
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Degcags Syndrome
Bilateral renal hypoplasia, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Hypospadias... OMIM:619488
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Myhre Syndrome
Ventricular septal defect, Short stature, Small for gestational age, Pericardial effusion, Crypto... OMIM:139210
Roberts Syndrome
Progressive flexion contractures, Postnatal growth retardation, Cryptorchidism, Long penis, Knee ... ORPHA:3103
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, ... OMIM:603457
Pelvis-Shoulder Dysplasia
Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Bilateral microphth... ORPHA:2839
Manitoba Oculotrichoanal Syndrome
Omphalocele, Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Vesico... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Vesico... ORPHA:363958
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Short stature, Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral... OMIM:616975
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia, Intrauterine growth retardation OMIM:613451
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... OMIM:214800
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Failure to thrive, Short stature OMIM:257850
Rothmund-Thomson Syndrome, Type 2
Short stature, Small for gestational age, Cryptorchidism, Hypogonadism, Microphthalmia, Annular p... OMIM:268400
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Rhizomelia, Hypospadias, Precocious puberty, Microphthalmia OMIM:615877
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Bilateral microphthalmos, Growth delay, Intrauterine... ORPHA:93325
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Lipoatrophy, Elevated circulating thyroid-stimulating hormone concentration, M... OMIM:601812
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos,... ORPHA:33364
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Severe short stature, Optic nerve hypoplasia, Ankle flexion contract... ORPHA:468631
Lesch-Nyhan Syndrome
Short stature, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy OMIM:300322
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Short stature, Abnormal... ORPHA:534
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Postnatal growth retardation, Horseshoe kidney, Bladder diverticulum, Vesi... ORPHA:959
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Severe short stature, Short stature, Small for gestational age, Microphthalmia OMIM:127000
Prader-Willi Syndrome Due To Translocation
Short stature, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:177907
Yunis-Varon Syndrome
Ventricular septal defect, Short stature, Hypospadias, Cardiomegaly, Postnatal growth retardation... ORPHA:3472
Renpenning Syndrome 1
Ventricular septal defect, Short stature, Hypospadias, Phimosis, Situs inversus totalis, Renal hy... OMIM:309500
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Joint contracture of the 5th finger, Supernumerary nipple OMIM:620098
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Aplasia of the uterus, Microphthalmia,... OMIM:614083
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Atrial septal defect, Small scrotum, Bicuspid aortic valve, ... OMIM:612289
Mosaic Variegated Aneuploidy Syndrome
Ambiguous genitalia, Multicystic kidney dysplasia, Short stature, Vaginal neoplasm, Growth delay,... ORPHA:1052
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Short stature ORPHA:1806
Momo Syndrome
Short stature, Large for gestational age, Abnormality of the thyroid gland, Bilateral microphthal... ORPHA:2563
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Frontorhiny
Pericallosal lipoma, Camptodactyly of finger, Microphthalmia, Hypopituitarism, Diabetes insipidus ORPHA:391474
Microphthalmia With Limb Anomalies
Short stature, Cryptorchidism, Horseshoe kidney, Camptodactyly of 2nd-5th fingers, Microphthalmia... ORPHA:1106
Holoprosencephaly 9
Anophthalmia, Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimula... OMIM:610829
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Cryptorchidism, Abnormalit... ORPHA:861
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Microphthalmia, Hydronephrosis OMIM:243605
Hallermann-Streiff Syndrome
Microphthalmia, Small for gestational age, Proportionate short stature, Cryptorchidism OMIM:234100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Short stature, Aplasia of the thymus, Hypothyroidism, Congenital hypothyroidism, H... OMIM:620186
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Congenital contracture, Hypoplastic male ext... OMIM:236670
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Monosomy 9Q22.3
Ovarian fibroma, Large for gestational age, Cardiac fibroma, Umbilical hernia, Microphthalmia ORPHA:77301
Aicardi Syndrome
Hepatoblastoma, Hiatus hernia, Postnatal growth retardation, Precocious puberty, Lipoma, Micropht... OMIM:304050
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Inguinal hernia, Hypospadias, Cryptorchidism, Horseshoe kidney, Knee flexion contr... OMIM:609945
Incontinentia Pigmenti
Hypoplasia of the fovea, Short stature, Scarring, Supernumerary nipple, Breast aplasia, Hypoplast... OMIM:308300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney ORPHA:268249
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Congenital hypothyroidism, Microphthalmia, Lin... OMIM:606519
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Ambiguo... OMIM:617666
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Failure to thrive, Intrauterine growth retardation ORPHA:364577
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Lymphedema-Distichiasis Syndrome
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect, Cellulitis OMIM:153400
Aicardi Syndrome
Hiatus hernia, Precocious puberty, Multiple lipomas, Delayed puberty, Hepatoblastoma, Microphthalmia ORPHA:50
Fraser Syndrome
Omphalocele, Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Multicystic kidney dy... ORPHA:2052
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic... OMIM:617925
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Atrial septal defect,... ORPHA:904
Hallermann-Streiff Syndrome
Proportionate short stature, Cryptorchidism, Abdominal situs inversus, Microphthalmia, Hypothyroi... ORPHA:2108
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Steinfeld Syndrome
Microphthalmia, Absent gallbladder, Abnormal heart morphology OMIM:184705
Monosomy 9P
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Hernia, Ambiguous genitalia, Microp... ORPHA:261112
Microcephaly-Micromelia Syndrome
Microphthalmia, Intrauterine growth retardation OMIM:251230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Incontinentia Pigmenti
Short stature, Camptodactyly of finger, Abnormal dental enamel morphology, Supernumerary nipple, ... ORPHA:464
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... OMIM:620185
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Scarring alopecia of scalp, Enamel hypoplasia OMIM:618727
Hydrolethalus Syndrome 1
Omphalocele, Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atr... OMIM:236680
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Inguinal hernia, Ventricular septal defect, Optic nerve ... ORPHA:508488
Focal Dermal Hypoplasia
Omphalocele, Ureteral duplication, Inguinal hernia, Anophthalmia, Short stature, Congenital diaph... OMIM:305600
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp... OMIM:273395
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Hypoplastic nipples OMIM:156610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia, Congenital contracture OMIM:613150
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Overriding aorta, Microphthalmia, Tetralogy of Fallot ORPHA:3186
Tuberous Sclerosis Complex
Renal insufficiency, Pancreatic endocrine tumor, Pituitary adenoma, Chronic kidney disease, Parat... ORPHA:805
X-Linked Intellectual Disability, Snyder Type
Short stature, Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Camp... ORPHA:3063
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... ORPHA:42775
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Anophthalmia, Panniculitis, Cellulitis, Atrial septal defect, Microphthalmia ORPHA:2526
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ventricular septal defect, Hypospadias, Ankle flexion contracture, Enlarged lab... OMIM:268300
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior, Urinary incontinence, Cholecystitis ORPHA:309256
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Short stature, Hypospadias, Cryptorchidism, Ureterocele, Microphthalmia OMIM:616734
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypoplastic left heart, P... OMIM:100300
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior, Urinary incontinence, Cholecystitis ORPHA:309263
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Severe short stature, Rhizomelia ORPHA:85167
Oculo-Palato-Cerebral Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:2714
Neu-Laxova Syndrome 1
Ventricular septal defect, Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by th... OMIM:256520
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma, Microphthalmia OMIM:109400
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... OMIM:609049
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy, Microphthalmia, Failure to thrive, Int... OMIM:608670
Childhood Absence Epilepsy
Abnormal social behavior, Urinary incontinence ORPHA:64280
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior, Urinary incontinence, Cholecystitis, Neoplasm of the gallbladder ORPHA:309271
Oculodentodigital Dysplasia
Neurogenic bladder, Joint contracture of the 5th finger, Atrial septal defect, Microphthalmia, En... OMIM:164200
Mowat-Wilson Syndrome
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesico... ORPHA:2152
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Camptodactyly of finger, Supernumerary nipple ORPHA:1236
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia, Adenoma sebaceum ORPHA:2612
Microphthalmia, Syndromic 6
Failure to thrive, Anophthalmia, Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorc... OMIM:607932
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Norrie Disease
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cachexia, Cryptorchidism, Hypoplasia of the ir... ORPHA:649
Witteveen-Kolk Syndrome
Inguinal hernia, Short stature, Decreased response to growth hormone stimulation test, Congenital... OMIM:613406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, External genital hypoplasia, Uni... ORPHA:141099
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogo... ORPHA:273
Holoprosencephaly 1
Short stature, Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus, Single ventricle OMIM:236100
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesico... ORPHA:261537
Fraser Syndrome 1
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Renal hypoplasia, Abnormal h... OMIM:219000
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Short stature OMIM:201180
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Truncal obesity, Perimembranous ventri... OMIM:612474
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Ventricular septal defect, Short stature OMIM:259770
Mowat-Wilson Syndrome
Bifid scrotum, Ventricular septal defect, Short stature, Hypospadias, Supernumerary nipple, Crypt... OMIM:235730
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, El... OMIM:113620
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesico... ORPHA:261552
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Tetralogy of Fallot, Camptodactyly of finger, Pericallosal lipoma ORPHA:306542
Dihydropyrimidine Dehydrogenase Deficiency
Uraciluria, Abnormal social behavior, Macular hypoplasia ORPHA:1675
Holoprosencephaly 7
Omphalocele, Microphthalmia, Bilateral microphthalmos, Panhypopituitarism OMIM:610828
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology, Abnormal heart morph... OMIM:154500
Monosomy 13Q14
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1587
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Neuroocular Syndrome
Hypoplasia of the fovea, Short stature, Lens coloboma, Umbilical hernia, Microphthalmia, Patent f... OMIM:619539
Frontofacionasal Dysplasia
Microphthalmia, Frontal cutaneous lipoma OMIM:229400
Isolated Arrhinia
Microphthalmia ORPHA:1134
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Hypospadias, Hydroureter, Cryptorchidism, Renal hypoplasia, ... OMIM:309800
Niemann-Pick Disease Type C
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality of the liver, Hepatic failu... ORPHA:646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Holoprosencephaly 2
Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, Anterior pituitary agenesis, Single ventr... OMIM:157170
Transketolase Deficiency
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Proportionate short ... ORPHA:488618
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Ectopic kidney, Vesicouret... OMIM:164210
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Proportionate short stature OMIM:617044

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 Tkt

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 Tkt.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tkttm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tktem1(IMPC)H Exon Deletion Mice
Tkttm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tkttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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