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Gene: Tgds MGI:1923605

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Gene Summary

Name:
TDP-glucose 4,6-dehydratase
Synonyms:
2610017J16Rik,  2610025M23Rik

Order Alleles

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
abnormal retina blood vessel morphology Tgdsem1(IMPC)Mbp HET   Early adult 4.84×10-05
abnormal embryo turning Tgdsem1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Tgdsem1(IMPC)Mbp HOM   Early adult 0.00
decreased thigmotaxis Tgdsem1(IMPC)Mbp HET Early adult 3.21×10-30
small kidney Tgdsem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Tgdsem1(IMPC)Mbp HET Early adult 0.00
prenatal lethality prior to heart atrial septation Tgdsem1(IMPC)Mbp HOM   E15.5 0.00
abnormal vitreous body morphology Tgdsem1(IMPC)Mbp HET Early adult 4.96×10-05
abnormal heart looping Tgdsem1(IMPC)Mbp HOM E9.5 0.00
enlarged testis Tgdsem1(IMPC)Mbp HET Early adult 0.00
abnormal optic vesicle formation Tgdsem1(IMPC)Mbp HOM E9.5 0.00
increased circulating alkaline phosphatase level Tgdsem1(IMPC)Mbp HET   Early adult 4.18×10-05
abnormal neural tube morphology Tgdsem1(IMPC)Mbp HOM E9.5 0.00
abnormal behavior Tgdsem1(IMPC)Mbp HET Early adult 1.46×10-29
abnormal eye morphology Tgdsem1(IMPC)Mbp HET Early adult 0.00
abnormal testis morphology Tgdsem1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Tgdsem1(IMPC)Mbp HET Early adult 4.14×10-07
abnormal retina vasculature morphology Tgdsem1(IMPC)Mbp HET Early adult 4.13×10-06
hyperactivity Tgdsem1(IMPC)Mbp HET Early adult 7.83×10-05
decreased anxiety-related response Tgdsem1(IMPC)Mbp HET Early adult 4.11×10-20
abnormal placenta morphology Tgdsem1(IMPC)Mbp HET E15.5 0.00
cataract Tgdsem1(IMPC)Mbp HET Early adult 9.22×10-05
abnormal somite shape Tgdsem1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Tgdsem1(IMPC)Mbp HOM E9.5 0.00
decreased locomotor activity Tgdsem1(IMPC)Mbp HET Early adult 3.05×10-19

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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.

Gross Morphology Embryo E9.5

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13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Catel-Manzke Syndrome
Micrognathia, Cleft palate, Glossoptosis, Malar flattening, Oral synechia ORPHA:1388
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Micrognathia, Cleft upper lip, Short toe, Pierre-Ro... OMIM:616145

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Short distal phalanx of finger OMIM:311895
Periodontal Ehlers-Danlos Syndrome
Premature loss of primary teeth, Micrognathia, Gingival overgrowth, Agenesis of permanent teeth, ... ORPHA:75392
Mesomelic Limb Shortening And Bowing
Micrognathia, Mesomelic arm shortening, Cleft palate, Mesomelic leg shortening, Retrognathia OMIM:249710
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Cleft palate, Micrognathia OMIM:183700
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft palate, Glossoptosis ORPHA:3104
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Morm Syndrome
Hyperactivity, Cataract, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Micropenis ORPHA:75858
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Choreoathetosis, Bradykinesia, Male hypogonadism, Shuffling gait, Bruxism, ... OMIM:300055
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
47,Xyy Syndrome
Male infertility, Hyperactivity, Macroorchidism, Hypospadias, Impulsivity, Cryptorchidism, Increa... ORPHA:8
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Cleft palate, Micrognathia ORPHA:2015
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... OMIM:300624
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... ORPHA:141152
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Mesomelia, Abnormal palate morphology, Micrognathia ORPHA:1277
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Fragile X Syndrome
Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:908
Nemaline Myopathy 9
High palate, Cleft palate, Micrognathia OMIM:615731
Partington Syndrome
Macroorchidism, Gait disturbance ORPHA:94083
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Temporomandibular joint ankylos... OMIM:614669
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening ORPHA:166100
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... OMIM:605899
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... ORPHA:66624
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Malar flattening, Small hand, Cleft palate OMIM:300261
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Coloboma, Uraciluria, Lethargy OMIM:274270
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Hyperlysinuria, Ectopia lentis OMIM:238700
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Treacher Collins Syndrome 3
Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia OMIM:248390
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Ataxia, Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentratio... OMIM:614307
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Elevated urinary phenylpyruvic acid leve... OMIM:261600
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... OMIM:239500
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Cleft palate, Micrognathia ORPHA:1779
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Premature ovarian insufficiency, Unsteady gait, Optic atrophy, Secondary amenorrhea OMIM:620312
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Lujan-Fryns Syndrome
Macroorchidism, Attention deficit hyperactivity disorder ORPHA:776
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radius, Hand oligodactyly, Cleft p... OMIM:602418
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Attention deficit hyperactivity disorder, Polycystic ovaries ORPHA:284180
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:615995
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninur... OMIM:204000
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional lability, Neu... OMIM:234500
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Cleft palate, Micrognathia OMIM:602196
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Ataxia, Optic atrophy, Depression, Dysphagia ORPHA:329314
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Cleft palate, Micrognathia ORPHA:971
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth OMIM:246560
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Cleft palate, Down... ORPHA:94066
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Premature ovarian insufficiency... ORPHA:3156
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate ORPHA:1226
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Ataxia, Aggressive behavior OMIM:300983
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Treacher Collins Syndrome 4
Malar flattening, Cleft palate, Micrognathia OMIM:618939
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Isolated Thyroid-Stimulating Hormone Deficiency
Thyroid hypoplasia, Pituitary hypothyroidism, Increased circulating prolactin concentration, Depr... ORPHA:90674
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... OMIM:601349
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Macroorchidi... OMIM:309520
Auriculocondylar Syndrome 3
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia OMIM:615706
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Micrognathia, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, ... OMIM:227270
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Autosomal Recessive Amelia
Micrognathia, Non-midline cleft lip, Orofacial cleft, Amelia involving the upper limbs, Amelia, A... ORPHA:1027
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract, Chorioretinal coloboma ORPHA:2489
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Catel-Manzke Syndrome
Micrognathia, Cleft palate, Glossoptosis, Malar flattening, Oral synechia ORPHA:1388
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Microcephaly-Albinism-Digital Anomalies Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Short distal phalanx of finger, Micrognathia ORPHA:2513
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Cleft palate, Non-midline cleft lip, Lip pit ORPHA:1072
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Retinal coloboma, Hypogonadism, Rod-cone d... ORPHA:363741
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... ORPHA:1473
Hamel Cerebro-Palato-Cardiac Syndrome
Malar flattening, Narrow mouth, Cleft palate, Micrognathia ORPHA:93946
Stickler Syndrome, Type Ii
Micrognathia, High, narrow palate, Pierre-Robin sequence, Cleft palate, Malar flattening, Bifid u... OMIM:604841
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft OMIM:141400
Cln3 Disease
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Depression, Bradyki... ORPHA:228346
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Renal insufficiency, Irregular menstruation, A... OMIM:615986
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Cleft palate, Anterior open-bit... OMIM:602483
Facial Clefting, Oblique, 1
Cleft palate, Cleft upper lip OMIM:600251
Isotretinoin Embryopathy-Like Syndrome
Cleft palate, Micrognathia OMIM:243440
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Genitopalatocardiac Syndrome
Cleft upper lip, Cleft palate, Micrognathia OMIM:231060
Chromosome 22Q11.2 Deletion Syndrome, Distal
Smooth philtrum, Malar flattening, Thin upper lip vermilion, Cleft palate OMIM:611867
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Polyembryoma
Macroorchidism, Isosexual precocious puberty, Elevated circulating alpha-fetoprotein concentratio... ORPHA:180229
Say Syndrome
Short distal phalanx of finger, Cleft palate, Micrognathia OMIM:181180
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Orofaciodigital Syndrome X
Retrognathia, Hand oligodactyly, Cleft palate, Fibular aplasia OMIM:165590
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... ORPHA:1248
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy OMIM:601794
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Anencephaly 2
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Tetraamelia Syndrome 2
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia, ... OMIM:618021
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Bradykinesia, Self... OMIM:619827
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Cach Syndrome
Cataract, Premature ovarian insufficiency, Optic atrophy, Nonketotic hyperglycinemia, Dysmetria, ... ORPHA:135
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Cleft palate, Micrognathia OMIM:615524
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... OMIM:152950
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Inability to walk, Steppage gait ORPHA:324410
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion OMIM:616898
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening OMIM:241310
Trisomy 20P
Hypospadias, Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Gait disturbance, M... ORPHA:261318
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Bradykinesia, Pro... ORPHA:248111
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Elevated circulating growth hormone concentra... ORPHA:562
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... OMIM:619927
Braddock-Carey Syndrome 2
Wide mouth, Retrognathia, Cleft palate, Pierre-Robin sequence OMIM:619981
Cleft Soft Palate
Cleft soft palate OMIM:119570
Hypoglossia With Situs Inversus
Micrognathia, High palate, Hypodontia, Narrow mouth, Microglossia OMIM:612776
Central Precocious Puberty In Male
Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Attention deficit hy... ORPHA:649929
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Ataxia, Hydroureter, Optic atrophy, Pigmentary retinopathy, Dysphag... OMIM:222300
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... OMIM:620141
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Peroxisome Biogenesis Disorder 8B
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Elevated circulating phytanic ... OMIM:614877
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Ataxia, Renal insufficiency, Cryptorchidism, Displacement of the u... ORPHA:2377
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Non-midline cleft lip ORPHA:2476
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft lip, Cleft palate ORPHA:1484
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-... ORPHA:228402
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... OMIM:310600
Classic Galactosemia
Male infertility, Cataract, Ataxia, Premature ovarian insufficiency, Decreased fertility in femal... ORPHA:79239
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Neurogenic bladder, Cataract, Dysmetria, Macular degeneration, Dysphagia OMIM:619780
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g... ORPHA:99330
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... OMIM:615516
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Proteinuria, Aggressive behavior, Agitation... OMIM:612469
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloi... OMIM:609049
Isotretinoin Syndrome
Cleft palate, Micrognathia ORPHA:2305
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ataxia, Impulsivity, Precocious puberty, Unilateral renal hypoplasia, Tip-toe gait, Agitation, At... OMIM:619950
Hydrolethalus Syndrome 2
Cleft palate, Micrognathia OMIM:614120
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... OMIM:221900
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Ataxia, Elevated circulating creatine kinase concentration, Depression, Pigmentary reti... ORPHA:79095
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Hyperkalemi... ORPHA:90790
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Nephrocalcinosis, Irritability, Hyperphosphatemia, Hypocalcemia, Hy... OMIM:146200
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism ORPHA:1381
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Athetosis,... OMIM:617302
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Nephrolithiasis, Choreoathetosis, Self-inj... OMIM:620023
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, ... ORPHA:245
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Astigmatism, Tics, Ina... ORPHA:363686
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Isolated Atp Synthase Deficiency
Cataract, Ataxia, Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, H... ORPHA:254913
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Micrognathia, Patellar aplasia, Patellar hypoplasia, Cleft palate, High palate OMIM:147891
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hyperactivity, Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic dis... OMIM:617516
Cri-Du-Chat Syndrome
Hyperactivity, Cataract, Hypospadias, Aggressive behavior, Cryptorchidism, Optic atrophy, Difficu... OMIM:123450
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Orofaciodigital Syndrome Iv
Accessory oral frenulum, Micrognathia, Hamartoma of tongue, Cleft palate, Lobulated tongue, High ... OMIM:258860
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism,... OMIM:610125
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Micromelia, Micrognathia, Cleft palate, Glossoptosis ORPHA:440354
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen... ORPHA:100924
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Abnormal repeti... ORPHA:649
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... OMIM:120330
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Astigmatism, Gait disturbance, Low... ORPHA:168491
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... ORPHA:899
Citrullinemia Type Ii
Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper... ORPHA:247585
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... OMIM:300578
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Hyp... ORPHA:414
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Proteinuria, Abnormal retinal vascular morphology, Elevated circulating... ORPHA:247691
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Aplasia/Hypoplasia of ... ORPHA:989
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Hydrolethalus
Micromelia, Micrognathia, Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral c... ORPHA:2189
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia OMIM:610706
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Refsum Disease, Classic
Cataract, Ataxia, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Ro... OMIM:266500
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Ataxia, Optic atrophy, Dysmetria, Rod-cone dystrophy, Subcapsular cataract OMIM:612674
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Low frustration tolerance, Microphallu... OMIM:300486
Microphthalmia, Lenz Type
Cataract, Hypospadias, Hydroureter, Cryptorchidism, Optic disc coloboma, Microcornea, Self-injuri... ORPHA:568
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Thymus hyperplasia, Testicu... ORPHA:744
Treacher Collins Syndrome 2
Microretrognathia, Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening... OMIM:613717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El... OMIM:614643
Angelman Syndrome
Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Precocious puberty in fe... ORPHA:72
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretinal coloboma, I... ORPHA:139471
Trisomy 8Q
Micrognathia, Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morpho... ORPHA:1752
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... OMIM:618314
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Intermediate Uveitis
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... ORPHA:279914
Transketolase Deficiency
Increased level of ribose in urine, Cataract, Secondary amenorrhea, Renal cyst, Self-injurious be... ORPHA:488618
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Cataract, Corneal opacity, Ataxia, Depression, Oligosacchariduria ORPHA:309288
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Cataract, Autoimmune hypoparathyroidism, Depression, Irritability, Hyper... ORPHA:36913
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
X-Linked Adrenoleukodystrophy
Hyperactivity, Neurogenic bladder, Aggressive behavior, Impotence, Gait disturbance, Disinhibitio... ORPHA:43
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Dysmetria, Developmental cataract, Vitreous hemorrhage, ... OMIM:620185
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokines... OMIM:610217
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior ORPHA:309246
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Urinary incontinence, Akinesia, Retinal degeneration, Optic atrophy, Phoni... OMIM:234200
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Short metacarpal, Short hallux, Micrognathia, Agenesis of mandibular central i... OMIM:268305
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Inability to walk, Optic atrophy, Renal hypoplasia, Nephrocal... OMIM:617913
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... ORPHA:1359
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... ORPHA:637
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Mic... ORPHA:3301
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Bardet-Biedl Syndrome 1
Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, ... OMIM:209900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin... OMIM:236670
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... OMIM:268315
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... OMIM:213300
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Orofaciodigital Syndrome Type 2
Micrognathia, High palate, Short tibia, Hamartoma of tongue, Adactyly, Talon cusp, Hypoplasia of ... ORPHA:2751
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... OMIM:256800
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced beh... ORPHA:353281
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Orotica... OMIM:207800
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Cataract, Proteinuria, Stage 5 chronic kidney disease, Dysphagia, Hematuria,... OMIM:308940
Aspartylglucosaminuria
Macroorchidism, Aspartylglucosaminuria, Cataract OMIM:208400
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Anorexia, St... ORPHA:91500
Tuberous Sclerosis Complex
Hyperactivity, Renal insufficiency, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavio... ORPHA:805
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Abnormal chorioretinal morphology, ... ORPHA:564
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... ORPHA:47159
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... OMIM:300166
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Emotional lability, Hyperactivity, Ataxia OMIM:620047
Aspartylglucosaminuria
Macroorchidism, Aspartylglucosaminuria ORPHA:93
Cystic Echinococcosis
Abnormality of the testis size, Renal cyst, Ovarian cyst, Membranous nephropathy, Hyperbilirubinemia ORPHA:400
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced beh... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Cataract, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced beh... ORPHA:353277
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Micrognathia, Cleft upper lip, Short toe, Pierre-Ro... OMIM:616145
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio... OMIM:157170

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 Tgds

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 Tgds.

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

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
Tgdsem1(IMPC)Mbp Exon Deletion Mice, Tissue
Tgdstm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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