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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 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
decreased thigmotaxis Tgdsem1(IMPC)Mbp HET Early adult 3.39×10-30
hyperactivity Tgdsem1(IMPC)Mbp HET Early adult 7.83×10-05
abnormal retina vasculature morphology Tgdsem1(IMPC)Mbp HET Early adult 2.13×10-05
abnormal kidney morphology Tgdsem1(IMPC)Mbp HET Early adult 0.00
abnormal embryo turning Tgdsem1(IMPC)Mbp HOM E9.5 0.00
decreased anxiety-related response Tgdsem1(IMPC)Mbp HET Early adult 4.49×10-20
decreased locomotor activity Tgdsem1(IMPC)Mbp HET Early adult 3.05×10-19
preweaning lethality, complete penetrance Tgdsem1(IMPC)Mbp HOM   Early adult 0.00
abnormal heart morphology Tgdsem1(IMPC)Mbp HOM E9.5 0.00
abnormal testis morphology Tgdsem1(IMPC)Mbp HET Early adult 0.00
abnormal somite shape Tgdsem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Tgdsem1(IMPC)Mbp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Tgdsem1(IMPC)Mbp HOM   E15.5 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 heart looping Tgdsem1(IMPC)Mbp HOM E9.5 0.00
small kidney Tgdsem1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Tgdsem1(IMPC)Mbp HET Early adult 5.19×10-08
abnormal placenta morphology Tgdsem1(IMPC)Mbp HET E15.5 0.00
abnormal behavior Tgdsem1(IMPC)Mbp HET Early adult 1.97×10-29
abnormal vitreous body morphology Tgdsem1(IMPC)Mbp HET Early adult 9.65×10-06
abnormal eye morphology Tgdsem1(IMPC)Mbp HET Early adult 0.00
cataract Tgdsem1(IMPC)Mbp HET Early adult 1.57×10-05
enlarged testis Tgdsem1(IMPC)Mbp HET Early adult 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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Gross Morphology Embryo E9.5

Images

13 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
Oral synechia, Micrognathia, Malar flattening, Glossoptosis, Cleft palate ORPHA:1388
Catel-Manzke Syndrome
Bifid uvula, Short toe, Cleft upper lip, Micrognathia, Narrow mouth, Short humerus, High palate, ... 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
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Micrognathia, Malar flattening, Oligodontia OMIM:613857
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
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
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
Periodontal Ehlers-Danlos Syndrome
Periodontitis, Atrophy of alveolar ridges, Agenesis of permanent teeth, Micrognathia, Gingival ov... ORPHA:75392
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Cleft palate OMIM:249710
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Morm Syndrome
Cataract, Aggressive behavior, Retinal atrophy, Hyperactivity, Micropenis, Retinal dystrophy ORPHA:75858
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... ORPHA:3000
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Small hand, Short foot, Malar flattening, Cleft palate OMIM:300261
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Malar flattening, Cleft palate OMIM:183700
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Micrognathia, Glossoptosis, Cleft palate ORPHA:3104
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Shuffling gait, Bradykinesia, Bruxism, Emotional lability, Juvenile cataract, ... OMIM:300055
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Auriculocondylar Syndrome 4
Micrognathia, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Micrognathia, Cle... ORPHA:141152
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Micrognathia, Cleft palate ORPHA:2015
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Fragile X Syndrome
Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Congenital mac... OMIM:300624
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Congenital stationary night blindness, Attention deficit... ORPHA:8
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Micrognathia, Mesomelia, Tooth agenesis ORPHA:1277
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Fragile X Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Macroorchidism, Irritability ORPHA:908
Partington Syndrome
Macroorchidism, Gait disturbance ORPHA:94083
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentra... ORPHA:85327
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate OMIM:615731
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Irritability, Aggressive behavior, Lethargy, Hyperactivity, Res... OMIM:605899
Craniofacial Microsomia 2
Bifid uvula, Micrognathia, Submucous cleft palate OMIM:620444
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Glossoptosis, Cleft palate ORPHA:166100
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Treacher Collins Syndrome 3
Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate OMIM:248390
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... OMIM:239500
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Weaver-Williams Syndrome
Narrow mouth, Cleft palate ORPHA:3448
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Phenylketonuria
Cataract, Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hipp... OMIM:261600
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Elevated urinary dihydrothymine level, Lethargy, Coloboma, Hyperactivity, Uraciluria OMIM:274270
Lujan-Fryns Syndrome
Attention deficit hyperactivity disorder, Macroorchidism ORPHA:776
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Micrognathia, Cleft palate ORPHA:1779
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir... ORPHA:179
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Macroorchidism, Polycystic ovaries ORPHA:284180
Hartnup Disorder
Neutral hyperaminoaciduria, Episodic ataxia, Emotional lability, Attention deficit hyperactivity ... OMIM:234500
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Depression, Elevated circulating phytanic acid concentration, I... OMIM:614307
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Solitary median maxillary central in... OMIM:602418
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Cleft palate, Hypoplastic distal segments of scapulae, Pierre-Robin sequence OMIM:602196
1Q21.1 Microduplication Syndrome
Cataract, Attention deficit hyperactivity disorder, Hypospadias, Cryptorchidism ORPHA:250994
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood ve... OMIM:204000
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Eye poking, ... OMIM:204100
Acrorenal Syndrome
Micrognathia, Aplasia/Hypoplasia of the radius, Cleft palate ORPHA:971
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Malar flattening, Short philtrum, Ectopic anus, Aplasia/Hypoplasia o... ORPHA:94066
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Cleft palate OMIM:246560
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Aggressive behavior, Hyperactivity, Motor stereotypy OMIM:619470
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Cataract, Depression, Ataxia, Dysphagia ORPHA:329314
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Depression, Increased circulating prolactin concentration, Goiter, A... ORPHA:90674
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate ORPHA:1226
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Holzgreve Syndrome
Cleft palate, Cleft upper lip OMIM:236110
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Low frustration tolerance, Aggressive behavior, Hyperactivity, Compulsive beh... OMIM:309520
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft upper lip, Orofacial cleft, Mandibular prognathia... OMIM:601349
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Treacher Collins Syndrome 4
Micrognathia, Malar flattening, Cleft palate OMIM:618939
Auriculocondylar Syndrome 3
Bifid uvula, Micrognathia, Retrognathia, Glossoptosis OMIM:615706
Autosomal Recessive Amelia
Micrognathia, Acromelia of the lower limbs, Amelia, Orofacial cleft, Non-midline cleft of the upp... ORPHA:1027
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Short thumb, Retrognathia, Micrognathia, Narrow mouth, Fibular hy... OMIM:227270
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Catel-Manzke Syndrome
Oral synechia, Micrognathia, Malar flattening, Glossoptosis, Cleft palate ORPHA:1388
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft of the upper lip, Cleft palate ORPHA:1072
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia ORPHA:2513
Hypoglossia-Hypodactylia
Microglossia, Retrognathia, Adactyly, Aglossia, Micrognathia, Narrow mouth OMIM:103300
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinuria, Optic nerve hypoplasia, Dysdiadochokinesis, Ectopia lentis, Cys... OMIM:238700
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma ORPHA:2489
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip, Short mandibular rami OMIM:141400
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Narrow mouth, Malar flattening, Cleft palate ORPHA:93946
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Senior-Loken Syndrome
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... ORPHA:3156
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Cleft palate OMIM:243440
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d... ORPHA:363741
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Smooth philtrum, Malar flattening, Cleft palate OMIM:611867
Genitopalatocardiac Syndrome
Micrognathia, Cleft palate, Cleft upper lip OMIM:231060
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Microdontia... ORPHA:1248
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Say Syndrome
Short distal phalanx of finger, Micrognathia, Cleft palate OMIM:181180
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Retinal detach... ORPHA:1473
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Retrognathia, Cleft palate OMIM:165590
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... OMIM:619827
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Tetraamelia Syndrome 2
Microretrognathia, Ankyloglossia, Micrognathia, Amelia, Bilateral cleft lip, Glossoptosis, Cleft ... OMIM:618021
Vitreoretinochoroidopathy
Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Cleft Soft Palate
Cleft soft palate OMIM:119570
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Retrognathia, Cleft palate OMIM:615524
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Macroorchidism, Steppage gait ORPHA:324410
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Elevated circulating alpha-fetoprotein concentration ORPHA:180229
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Hypoglossia With Situs Inversus
Microglossia, Micrognathia, Narrow mouth, Hypodontia, High palate OMIM:612776
Juvenile Huntington Disease
Broad-based gait, Depression, Gait ataxia, Irritability, Hyperactivity, Ataxia, Bradykinesia, Pro... ORPHA:248111
Trisomy 20P
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Gait disturbance, Multiple renal cysts... ORPHA:261318
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Macroorchidism, Hypospadias OMIM:618874
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... ORPHA:91349
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Gait disturbance ORPHA:1875
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... OMIM:619927
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Aggressive behavior, Atten... OMIM:152950
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Frequent temper tantrums, Hydronephrosis, Aggressive behavior, Attention defi... OMIM:620141
Laurence-Moon Syndrome
Cataract, Renal insufficiency, Cryptorchidism, Displacement of the urethral meatus, Ataxia, Hypop... ORPHA:2377
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening OMIM:241310
Mccune-Albright Syndrome
Renal phosphate wasting, Precocious puberty, Increased circulating prolactin concentration, Goite... ORPHA:562
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Braddock-Carey Syndrome 2
Wide mouth, Retrognathia, Cleft palate, Pierre-Robin sequence OMIM:619981
Cach Syndrome
Optic atrophy, Renal hypoplasia, Cataract, Gonadal dysgenesis, Limb ataxia, Dysmetria, Irritabili... ORPHA:135
Bardet-Biedl Syndrome 9
Cataract, Polydipsia, Attenuation of retinal blood vessels, Renal insufficiency, Astigmatism, Ret... OMIM:615986
Eales Disease
Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis... ORPHA:40923
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin... OMIM:251270
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Cleft palate ORPHA:2476
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity... ORPHA:228402
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Absent testis, Male ... ORPHA:983
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Langer Mesomelic Dysplasia
Short tibia, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Fibular hypoplasia, Hyp... OMIM:249700
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue irides, Unstea... OMIM:615516
Wagro Syndrome
Cataract, Hypoplastic female external genitalia, Decreased testicular size, Aniridia, Emotional l... OMIM:612469
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Hypoparathyroidism, Familial Isolated, 1
Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Irritability, Hypoparathyroidism, Hy... OMIM:146200
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Hypona... ORPHA:90790
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Cataract, Hydroureter, Hydronephrosis, Neurogenic bladder,... OMIM:222300
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive ... OMIM:310600
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Tip-toe gait, Bruxism, Unilateral renal hypoplasia, Agitation, Self-mutilatio... OMIM:619950
Isotretinoin Syndrome
Micrognathia, Cleft palate ORPHA:2305
Hydrolethalus Syndrome 2
Micrognathia, Cleft palate OMIM:614120
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Glossoptosis, Cleft palate, Short femur ORPHA:440354
Mandibulofacial Dysostosis With Alopecia
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... OMIM:616367
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration, Dysmetria, Neurogenic bladder, Dysphagia OMIM:619780
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, ... ORPHA:3306
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta... OMIM:616468
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Nephrolithiasis, Aggressive behavior, Hyperactivity, ... OMIM:620023
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, No... ORPHA:245
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, St... OMIM:609049
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Tessier cleft, Cleft upper lip, Micrognathia, Narrow mouth, Cleft palate OMIM:239800
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Inappropriate laughter, Obsessive-compulsive trait, Self-mutilation, Astigmatism, Low frustration... ORPHA:363686
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:99330
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy, Cholelithiasis, Depression, Hypogonadism, Elevated circulating ... ORPHA:79095
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Optic Atrophy 11
Optic atrophy, Cherry red spot of the macula, Stereotypical body rocking, Dysmetria, Attention de... OMIM:617302
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... ORPHA:137888
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:261534
Stankiewicz-Isidor Syndrome
Cryptorchidism, Abnormal optic disc morphology, Pineal cyst, Hyperactivity, Shawl scrotum, Microp... OMIM:617516
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Microphthalmia, Syndromic 11
Cleft palate, Cleft upper lip OMIM:614402
Orofaciodigital Syndrome Iv
Short tibia, Lobulated tongue, Short finger, Hamartoma of tongue, Micrognathia, High palate, Tong... OMIM:258860
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Purple urine, Difficulty walking, Increased urinary p... ORPHA:100924
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Coloboma, Micropenis, Retinal... OMIM:610125
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Micrognathia, Patellar aplasia, High palate, Cleft palate, Short femur OMIM:147891
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo... OMIM:177650
Walker-Warburg Syndrome
Optic atrophy, Cataract, Retinal dysplasia, Microcornea, Abnormal optic nerve morphology, Abnorma... ORPHA:899
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, ... ORPHA:989
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Hematuria, Retinal detachment, Lens luxatio... OMIM:120330
Norrie Disease
Self-injurious behavior, Optic atrophy, Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of ... ORPHA:649
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Microphallus, Gait ataxia, Cryptorchidism, Self-mutilation, Low frustration tolera... OMIM:300486
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Obsessive-compulsive trait, Astigmatism, Retinal degeneration, Low frustration... ORPHA:168491
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r... OMIM:300578
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Hydrolethalus
Bifid uvula, Gingival cleft, Micromelia, Retrognathia, Unilateral cleft lip, Micrognathia, Submuc... ORPHA:2189
Gyrate Atrophy Of Choroid And Retina
Aminoaciduria, Cataract, Abnormal macular morphology, Hyperornithinemia, Chorioretinal atrophy, S... ORPHA:414
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Citrullinemia Type Ii
Hypoalbuminemia, Mania, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperl... ORPHA:247585
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hyperlipidemia, Enlarg... ORPHA:91
Microphthalmia, Lenz Type
Self-injurious behavior, Iris coloboma, Cataract, Microcornea, Hydroureter, Chorioretinal colobom... ORPHA:568
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Hyperactivity, Polyuria, ... OMIM:618314
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Treacher Collins Syndrome 2
Microretrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening... OMIM:613717
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Macular edema, Depression, Elevated circulating creatinine concentration, Irritabili... ORPHA:247691
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Trisomy 8Q
Micrognathia, Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bi... ORPHA:1752
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Cataract, Depression, Hyperphosphatemia, Hypocalcemic tetany, Autoimmune... ORPHA:36913
Angelman Syndrome
Self-injurious behavior, Optic atrophy, Broad-based gait, Precocious puberty in females, Keratoco... ORPHA:72
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Proteus Syndrome
Cataract, Retinal nonattachment, Long penis, Thymus hyperplasia, Chorioretinal coloboma, Central ... ORPHA:744
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retinal detachment,... OMIM:614643
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Sclerocornea, Iris coloboma, Retin... ORPHA:139471
Alpha-Mannosidosis, Adult Form
Ataxia, Cataract, Depression, Oligosacchariduria, Corneal opacity, Optic disc pallor ORPHA:309288
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... ORPHA:279914
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia ORPHA:2975
Atelis Syndrome 2
Dysmetria, Attention deficit hyperactivity disorder, Vitreous hemorrhage, Developmental cataract,... OMIM:620185
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Transketolase Deficiency
Increased level of ribose in urine, Self-injurious behavior, Cataract, Elevated circulating ribit... ORPHA:488618
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Gait ataxia, Emotional lability, Dysmetria, Hyperactivity, Bradykinesia, Dysphagia... OMIM:610217
Robin Sequence With Cleft Mandible And Limb Anomalies
Short 5th finger, Bifid uvula, Microretrognathia, Short tibia, Short thumb, Cleft mandible, Mesom... OMIM:268305
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Optic atrophy, Pigmentary retinopathy, Depression, Akinesia, Obsessive-compulsive tr... OMIM:234200
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula ORPHA:309246
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Cataract, Inability to walk, Re... OMIM:617913
Carney Complex
Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ... ORPHA:1359
Bardet-Biedl Syndrome 1
Ataxia, Cataract, Abnormality of the ovary, Decreased testicular size, Hyperautofluorescent macul... OMIM:209900
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Multicystic kidney dysplasia, Iris coloboma, Cataract, Microcornea, Cryptorchidism... ORPHA:3301
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu... OMIM:106210
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism ORPHA:1069
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Orofaciodigital Syndrome Type 2
Natal tooth, Short tibia, Velopharyngeal insufficiency, Micrognathia, High palate, Peg-shaped max... ORPHA:2751
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Cataract, Peters anomaly, Megalocornea, Cryptorchidism, Elevated circulating creat... OMIM:236670
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca... ORPHA:637
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Emotional lability, Self-mutilation, Recurrent corneal erosions, Hyp... OMIM:256800
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Cataract, Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bone... OMIM:268315
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Cataract, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, ... OMIM:308940
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis, Hypokalemia OMIM:219090
Argininemia
Oroticaciduria, Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Spastic ... OMIM:207800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Cataract, Abnormal fear-induced behavior, Vesicoureteral reflux, Retinop... ORPHA:353281
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Aspartylglucosaminuria
Cataract, Macroorchidism, Aspartylglucosaminuria OMIM:208400
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... OMIM:612716
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Tuberous Sclerosis Complex
Chronic kidney disease, Self-injurious behavior, Chorioretinal hypopigmentation, Depression, Pitu... ORPHA:805
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Retinal vasculitis, Anorexia, Tubulointerstitial nep... ORPHA:91500
Proximal Renal Tubular Acidosis
Aminoaciduria, Cataract, Nephrocalcinosis, Band keratopathy, Polydipsia, Glycosuria, Hypernatriur... ORPHA:47159
Meckel Syndrome
Optic atrophy, Multicystic kidney dysplasia, Microcornea, Cataract, Cryptorchidism, Aplasia/Hypop... ORPHA:564
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Attention deficit hyperactivity d... OMIM:619539
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Reduced renal corticomedullary differentiation, Hyperactivity, Ataxia OMIM:620047
Microphthalmia, Syndromic 2
Iris coloboma, Microcornea, Septate vagina, Cryptorchidism, Retinal detachment, Remnants of the h... OMIM:300166
Aspartylglucosaminuria
Macroorchidism, Aspartylglucosaminuria ORPHA:93
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Cataract, Abnormal fear-induced behavior, Corneal scarring, Vesicoureter... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Cataract, Abnormal fear-induced behavior, Corneal scarring, Vesicoureter... ORPHA:353277
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Catel-Manzke Syndrome
Bifid uvula, Short toe, Cleft upper lip, Micrognathia, Narrow mouth, Short humerus, High palate, ... OMIM:616145
Histidinemia
Histidinuria, Hyperactivity, Hyperhistidinemia ORPHA:2157
Holoprosencephaly 2
Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Cyc... 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

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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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