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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
small kidney Tgdsem1(IMPC)Mbp HET Early adult 0.00
abnormal embryo turning Tgdsem1(IMPC)Mbp HOM E9.5 0.00
abnormal placenta morphology Tgdsem1(IMPC)Mbp HET E15.5 0.00
preweaning lethality, complete penetrance Tgdsem1(IMPC)Mbp HOM   Early adult 0.00
abnormal eye morphology Tgdsem1(IMPC)Mbp HET Early adult 0.00
abnormal vitreous body morphology Tgdsem1(IMPC)Mbp HET Early adult 9.65×10-06
increased circulating alkaline phosphatase level Tgdsem1(IMPC)Mbp HET   Early adult 4.18×10-05
abnormal somite shape Tgdsem1(IMPC)Mbp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Tgdsem1(IMPC)Mbp HOM   E15.5 0.00
persistence of hyaloid vascular system Tgdsem1(IMPC)Mbp HET Early adult 5.19×10-08
enlarged testis Tgdsem1(IMPC)Mbp HET Early adult 0.00
abnormal neural tube morphology Tgdsem1(IMPC)Mbp HOM E9.5 0.00
cataract Tgdsem1(IMPC)Mbp HET Early adult 1.57×10-05
abnormal behavior Tgdsem1(IMPC)Mbp HET Early adult 1.46×10-29
abnormal heart morphology Tgdsem1(IMPC)Mbp HOM E9.5 0.00
abnormal optic vesicle formation Tgdsem1(IMPC)Mbp HOM E9.5 0.00
abnormal retina vasculature morphology Tgdsem1(IMPC)Mbp HET Early adult 2.13×10-05
hyperactivity Tgdsem1(IMPC)Mbp HET Early adult 7.83×10-05
abnormal kidney morphology Tgdsem1(IMPC)Mbp HET Early adult 0.00
decreased thigmotaxis Tgdsem1(IMPC)Mbp HET Early adult 3.21×10-30
decreased locomotor activity Tgdsem1(IMPC)Mbp HET Early adult 3.05×10-19
abnormal heart looping Tgdsem1(IMPC)Mbp HOM E9.5 0.00
decreased anxiety-related response Tgdsem1(IMPC)Mbp HET Early adult 4.11×10-20
abnormal testis morphology 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.

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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Gross Morphology Embryo E9.5

Images

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 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
Glossoptosis, Oral synechia, Micrognathia, Cleft palate, Malar flattening ORPHA:1388
Catel-Manzke Syndrome
Glossoptosis, Short metacarpal, High palate, Narrow mouth, Cleft upper lip, Micrognathia, Short h... 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
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia 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
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate ORPHA:2016
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Oligodontia, Micrognathia, Malar flattening OMIM:613857
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Parc Syndrome
Cleft palate, Microretrognathia OMIM:600331
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Short distal phalanx of finger OMIM:311895
Periodontal Ehlers-Danlos Syndrome
Periodontitis, Atrophy of alveolar ridges, Gingival overgrowth, Microdontia, Premature loss of pr... ORPHA:75392
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic arm shortening, Mesomelic leg shortening, Micrognathia, Cleft palate OMIM:249710
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... 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 upper lip, Cleft palate OMIM:106250
Morm Syndrome
Retinal dystrophy, Hyperactivity, Retinal atrophy, Cataract, Micropenis, Aggressive behavior ORPHA:75858
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Familial Peripheral Male-Limited Precocious Puberty
Long penis, Oligozoospermia, Precocious puberty, Attention deficit hyperactivity disorder, Macroo... ORPHA:3000
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Small hand, Cleft palate, Malar flattening, Short foot 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, Cleft palate, Malar flattening OMIM:183700
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Cleft palate, Submucous cleft har... ORPHA:2521
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Finger aplasia, Micrognathia, Cleft palate ORPHA:3104
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth OMIM:183300
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Bradykinesia, Male hypogonadism, Juvenile cataract, Emotional lability, Shuffling g... OMIM:300055
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft upper lip, Cleft palate OMIM:179400
Auriculocondylar Syndrome 4
Narrow mouth, Micrognathia, Cleft palate, Glossoptosis OMIM:620457
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Micrognathia, Cleft palate, Mic... ORPHA:141152
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Cleft palate, Thin upper lip vermilion ORPHA:2015
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Macroorchidism, Impulsivity OMIM:300143
Fragile X Syndrome
Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ... OMIM:300624
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
47,Xyy Syndrome
Congenital stationary night blindness, Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, ... ORPHA:8
2q33.1 deletion syndrome
Cleft palate, High palate DECIPHER:51
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Micrognathia, Mesomelia, Tooth agenesis ORPHA:1277
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Palat... ORPHA:199306
Fragile X Syndrome
Attention deficit hyperactivity disorder, Self-injurious behavior, Irritability, Macroorchidism 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
Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Aggressive beha... ORPHA:85327
Nemaline Myopathy 9
Micrognathia, Cleft palate, High palate OMIM:615731
Glycine Encephalopathy 1
Irritability, Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Letharg... OMIM:605899
Craniofacial Microsomia 2
Submucous cleft palate, Micrognathia, Bifid uvula OMIM:620444
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Auriculocondylar Syndrome 2A
Short mandibular rami, Mandibular condyle hypoplasia, Dental crowding, Temporomandibular joint an... OMIM:614669
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Micrognathia, Cleft palate, Malar flattening, Long philtrum ORPHA:166100
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Hyperprolinemia, Type I
Prolinuria, Hyperactivity, Hyperglycinuria, Ataxia, Hydroxyprolinuria, Motor stereotypy, Hyperpro... OMIM:239500
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening OMIM:248390
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Phenylketonuria
Irritability, Increased level of hippuric acid in urine, Hyperactivity, Depression, Hyperphenylal... OMIM:261600
Weaver-Williams Syndrome
Cleft palate, Narrow mouth ORPHA:3448
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Uraciluria, Elevated urinary dihydrothymine level, Hyperactivity, Coloboma, Lethargy 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, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Xp22.13P22.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Polycystic ovaries, Macroorchidism ORPHA:284180
Alpha-Methylacyl-Coa Racemase Deficiency
Increased circulating very long-chain fatty acid concentration, Depression, Hypergonadotropic hyp... OMIM:614307
Hartnup Disorder
Hyperactivity, Emotional lability, Episodic ataxia, Attention deficit hyperactivity disorder, Ele... OMIM:234500
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate OMIM:600251
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Solitary median maxillary central incisor, High palate, Finger aplasia,... OMIM:602418
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Cleft palate OMIM:602196
1Q21.1 Microduplication Syndrome
Cataract, Attention deficit hyperactivity disorder, Cryptorchidism, Hypospadias ORPHA:250994
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Leber Congenital Amaurosis 1
Eye poking, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels,... OMIM:204000
Leber Congenital Amaurosis 2
Eye poking, Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels,... OMIM:204100
Acrorenal Syndrome
Micrognathia, Cleft palate, Aplasia/Hypoplasia of the radius ORPHA:971
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Short philtrum, Mandibular prognathia, Ectopic anus, Aplasia/Hypoplasia of the distal phalanges o... ORPHA:94066
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Hypoplasia of the maxilla, Cleft palate, Microretrognathia OMIM:246560
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619470
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Pituitary hypothyroidism, Abnormal circulating thyroglobulin concentration, Thyroid h... ORPHA:90674
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Depression, Ataxia, Dysphagia, Cataract ORPHA:329314
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate ORPHA:1226
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Vitreous hemorrhage, Chorioretinal atroph... ORPHA:891
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Holzgreve Syndrome
Cleft upper lip, Cleft palate OMIM:236110
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Emotional lability, Compulsive behaviors, Macroorchidis... OMIM:309520
Leber Congenital Amaurosis 8
Macular coloboma, Eye poking, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fu... OMIM:613835
Microphthalmia, Syndromic 8
Orofacial cleft, Mandibular prognathia, Cleft upper lip, Cleft palate, Widely-spaced maxillary ce... OMIM:601349
Lethal Omphalocele-Cleft Palate Syndrome
Retrognathia, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Cleft palate ORPHA:2736
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Treacher Collins Syndrome 4
Micrognathia, Cleft palate, Malar flattening OMIM:618939
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr... OMIM:305390
Auriculocondylar Syndrome 3
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis OMIM:615706
Autosomal Recessive Amelia
Orofacial cleft, Non-midline cleft of the upper lip, Amelia involving the upper limbs, Amelia, Ac... ORPHA:1027
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Retrognathia, Fibular hypoplasia, Hypoplasia of the radius, Narrow mouth,... OMIM:227270
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Catel-Manzke Syndrome
Glossoptosis, Oral synechia, Micrognathia, Cleft palate, Malar flattening ORPHA:1388
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate, Lip pit 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
Retrognathia, Adactyly, Narrow mouth, Micrognathia, Microglossia, Aglossia OMIM:103300
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Hyperlysinemia, Type I
Argininuria, Hyperactivity, Optic nerve hypoplasia, Dysdiadochokinesis, Hyperlysinemia, Ectopia l... OMIM:238700
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma ORPHA:2489
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Abnormal macular morphology, Abnormal r... ORPHA:190
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Cleft palate, Non-midline cleft of the upper lip OMIM:141400
Retinopathy Of Prematurity
Retinopathy of prematurity, Vitreous hemorrhage, Tractional retinal detachment, Abnormal retinal ... ORPHA:90050
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Cleft palate, Narrow mouth, Malar flattening ORPHA:93946
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Mandibular condyle hypoplasia, Dental crowding, Glossoptosis, Na... OMIM:602483
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Senior-Loken Syndrome
Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Ataxia, Chronic kidney ... ORPHA:3156
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Cleft palate OMIM:243440
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone d... ORPHA:363741
Chromosome 22Q11.2 Deletion Syndrome, Distal
Cleft palate, Malar flattening, Smooth philtrum, Thin upper lip vermilion OMIM:611867
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Genitopalatocardiac Syndrome
Cleft upper lip, Micrognathia, Cleft palate OMIM:231060
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Aplasia... ORPHA:1248
Say Syndrome
Short distal phalanx of finger, Micrognathia, Cleft palate OMIM:181180
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretin... ORPHA:1473
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
Anencephaly 2
Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip OMIM:619452
Orofaciodigital Syndrome X
Retrognathia, Fibular aplasia, Cleft palate, Finger aplasia OMIM:165590
Vitreoretinochoroidopathy
Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc... OMIM:193220
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Bradykinesia, Nail-biting, Hyperactivity, Nephrolithiasis, Attention defi... OMIM:619827
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Tetraamelia Syndrome 2
Amelia, Glossoptosis, Ankyloglossia, Micrognathia, Cleft palate, Microretrognathia, Bilateral cle... OMIM:618021
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Cleft Soft Palate
Cleft soft palate OMIM:119570
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Optic disc drusen, Cystoid macular edema, ... OMIM:611040
Microphthalmia, Syndromic 12
Intestinal malrotation, Retrognathia, Micrognathia, Cleft palate OMIM:615524
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Steppage gait, Macroorchidism ORPHA:324410
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Elevated circulating alpha-fetoprotein concentration ORPHA:180229
8p23.1 deletion syndrome
Hyperactivity, Cryptorchidism DECIPHER:39
Juvenile Huntington Disease
Bradykinesia, Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depre... ORPHA:248111
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Micrognathia, Microglossia, Hypodontia OMIM:612776
Trisomy 20P
Hypospadias, Gait disturbance, Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, C... ORPHA:261318
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Gait disturbance, Decreased testicular size, Hypogonadism, Cataract ORPHA:1875
Intellectual Developmental Disorder, Autosomal Dominant 67
Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis... OMIM:619927
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Agitation, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, Corne... OMIM:152950
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Hydronephrosis, Develop... OMIM:620141
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Ataxia, Cataract, Cryptorchidism, Renal... ORPHA:2377
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Vitritis, Cystoid macular edema, Vitreou... ORPHA:40923
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Aglossia, Pursed lips OMIM:241310
Mccune-Albright Syndrome
Renal phosphate wasting, Abnormal testis morphology, Precocious puberty, Hyperphosphaturia, Ovari... ORPHA:562
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Braddock-Carey Syndrome 2
Retrognathia, Pierre-Robin sequence, Wide mouth, Cleft palate OMIM:619981
Cach Syndrome
Optic atrophy, Gonadal dysgenesis, Irritability, Limb ataxia, Nonketotic hyperglycinemia, Optic n... ORPHA:135
Bardet-Biedl Syndrome 9
Polydipsia, Bone spicule pigmentation of the retina, Astigmatism, Polyphagia, Attenuation of reti... OMIM:615986
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Optic disc pallor, Cataract, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Aplasia/Hypoplasia of the radius ORPHA:2476
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... ORPHA:91495
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior... ORPHA:228402
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla... OMIM:120200
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Non-midline cleft of the upper lip, Cleft palate ORPHA:1484
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Blue irides, Self-mutilation, Aggressive b... OMIM:615516
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, H... OMIM:249700
Wagro Syndrome
Agitation, Hypoplastic female external genitalia, Aniridia, Emotional lability, Low frustration t... OMIM:612469
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Nephrocalcinosis, Cataract... OMIM:146200
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Hyperkalemia, Abnormal female exter... ORPHA:90790
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Neurogenic bladder, Hydronephrosis, Ataxia, Dysphagia, Cataract, Test... OMIM:222300
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Tip-toe gait, Agitation, Stereotypical hand wringing, Impulsivity, Precocious puberty, Ataxia, Ma... 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, Glossoptosis, Micromelia, Micrognathia, Cleft palate, Short femur, Hypoplastic scapulae ORPHA:440354
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath... OMIM:616367
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cleft palate OMIM:612370
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Hyperactivity, Precocious puberty, Motor stereotyp... ORPHA:3306
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Neurogenic bladder, Dysphagia, Cataract, Dysmetria OMIM:619780
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Remnan... OMIM:609049
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Depression, Elevated circulating creatine kinase concentration, Ataxia, Hypogonad... ORPHA:79095
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Nephrolithiasis, Self-injurious behavior, Choreoathetosis, Aggr... OMIM:620023
Exudative Vitreoretinopathy 6
Falciform retinal fold, Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the ret... OMIM:616468
Nager Syndrome
Hypoplasia of the radius, Abnormal palate morphology, Aplasia/Hypoplasia of the thumb, Non-midlin... ORPHA:245
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Obsessive-compulsive trait, Astigmatism, Hypospadias, Hyperactivity, Optic nerve hypoplasia, Low ... ORPHA:363686
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, Narrow mouth, Cleft upper lip, Micrognathia, Cleft palate, Short 5th finger OMIM:239800
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Low frustration tolerance, Abnormality of the testis si... ORPHA:99330
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... OMIM:221900
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Optic Atrophy 11
Optic atrophy, Hyperactivity, Optic nerve hypoplasia, Athetosis, Mildly elevated creatine kinase,... OMIM:617302
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Mandibular condyle hypoplasia, Dental crowding, Gloss... ORPHA:137888
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
49,Xxxyy Syndrome
External genital hypoplasia, Low frustration tolerance, Abnormality of the testis size, Decreased... ORPHA:261534
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... ORPHA:2334
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Hyperactivity, Abnormal optic disc morphology, Shawl scrotum, ... OMIM:617516
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, In... ORPHA:100924
Microphthalmia, Syndromic 11
Cleft upper lip, Cleft palate OMIM:614402
Orofaciodigital Syndrome Iv
Short finger, Tongue nodules, High palate, Micrognathia, Cleft palate, Lobulated tongue, Accessor... OMIM:258860
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Coloboma, Microcornea, Cataract, Cryptorchidism, Micro... OMIM:610125
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, High palate, Micrognathia, Cleft palate, Patellar aplasia, Short femur OMIM:147891
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Hypoplasia of penis, Retinal detachment, Retinal dystrophy, Mic... ORPHA:899
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Papillorenal Syndrome
Stage 5 chronic kidney disease, Elevated circulating creatinine concentration, Macular degenerati... OMIM:120330
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Hypodontia, Adactyly, High palate, Narrow mouth, Anal atresia, Mic... ORPHA:989
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Irritability, Abnormal vitreous humor morpholog... ORPHA:649
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Low frustration tolerance, Microphallus, Gait ataxia, Motor stereotypy, Small scro... OMIM:300486
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Astigmatism, Inability to walk, Hyperactivity, Low frustration tolera... ORPHA:168491
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr... OMIM:300578
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Hydrolethalus
Retrognathia, Gingival cleft, Micromelia, Micrognathia, Bifid uvula, Unilateral cleft lip, Cleft ... ORPHA:2189
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Hyperornithinemia, Chorioretinal degeneration, Chorioretinal atr... ORPHA:414
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Aromatase Deficiency
Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo... ORPHA:91
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Irritability, Glomerular sclerosis, Retinal neovascularization, Depression, Retinal cotton wool s... ORPHA:247691
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Hyperactivity, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, ... OMIM:618314
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Microcornea, Hydronephrosis, Chorioretinal coloboma, Optic disc colobom... ORPHA:568
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Treacher Collins Syndrome 2
Retrognathia, Micrognathia, Cleft palate, Malar flattening, Microretrognathia, Hypoplasia of the ... OMIM:613717
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Autoimmune hypoparathyroidism, Cal... ORPHA:36913
Trisomy 8Q
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Ab... ORPHA:1752
Angelman Syndrome
Optic atrophy, Astigmatism, Precocious puberty in females, Tongue thrusting, Broad-based gait, Hy... ORPHA:72
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... OMIM:614643
Proteus Syndrome
Retinal hamartoma, Enlarged kidney, Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplas... ORPHA:744
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Cryptorchidism, I... ORPHA:139471
Alpha-Mannosidosis, Adult Form
Depression, Corneal opacity, Ataxia, Cataract, Oligosacchariduria, Optic disc pallor ORPHA:309288
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Chor... OMIM:612109
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Intermediate Uveitis
Band keratopathy, Cystoid macular edema, Optic neuritis, Vitreous snowballs, Vitreous floaters, V... ORPHA:279914
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla ORPHA:2975
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cataract, Attention d... OMIM:620185
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Transketolase Deficiency
Increased level of ribose in urine, Elevated circulating ribitol concentration, Compulsive behavi... ORPHA:488618
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Bradykinesia, Emotional lability, Hyperactivity, Dysdiadochokinesis, Impulsivity, ... OMIM:610217
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Iris atrophy, Heterochromia iridis, Chori... ORPHA:263479
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Renal artery stenosis, R... OMIM:617913
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Hypoplasia of the radius, Fibular hypoplasia, Aplasia of the epiglott... OMIM:268305
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Obsessive-compulsive trait, Bradykinesia, Urinary incontinence, Akinesia, Hyperact... OMIM:234200
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula ORPHA:309246
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Astigmatism, Gait imbalance, Retinal dystrophy, Hyperaut... OMIM:209900
Anterior Segment Dysgenesis 2
Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... OMIM:610256
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, Pi... ORPHA:1359
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Mul... ORPHA:3301
Aniridia 1
Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... OMIM:106210
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Coloboma, Retinal a... OMIM:236670
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Orofaciodigital Syndrome Type 2
Abnormal oral frenulum morphology, Tongue nodules, Taurodontia, Talon cusp, Unilateral alveolar c... ORPHA:2751
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t... ORPHA:637
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Emotional lability, Corneal scarri... OMIM:256800
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid... OMIM:268315
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Renal insufficiency, Nephropathy, Cataract, Microscopic hematuria, Abnormal renal phys... OMIM:308940
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Nephrolithiasis, Pituitary adenoma OMIM:219090
Argininemia
Anorexia, Irritability, Spastic gait, Oroticaciduria, Hyperactivity, Hyperargininemia, Hyperammon... OMIM:207800
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Emotional lability, Coloboma, Vesicou... ORPHA:353281
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Aspartylglucosaminuria
Cataract, Aspartylglucosaminuria, Macroorchidism OMIM:208400
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Depression, Hyperphenylalaninemia, Abnormal circu... OMIM:612716
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Tuberous Sclerosis Complex
Retinal hamartoma, Hyperactivity, Polycystic kidney dysplasia, Pheochromocytoma, Depression, Impu... ORPHA:805
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Cystoid macular edema, C... ORPHA:91500
Proximal Renal Tubular Acidosis
Polydipsia, Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypoka... ORPHA:47159
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Attention deficit hyperactiv... OMIM:619539
Meckel Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Ureteral duplication, Microcornea, Pancreatic c... ORPHA:564
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability, Ataxia, Reduced renal corticomedullary differentiation OMIM:620047
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen... OMIM:300166
Aspartylglucosaminuria
Aspartylglucosaminuria, Macroorchidism ORPHA:93
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Anterior chamber cells, Retinal hemorrhage, Depigmented fu... ORPHA:79098
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Emotional lability, Coloboma, Vesicou... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hypospadias, Hyperactivity, Emotional lability, Coloboma, Vesicou... ORPHA:353277
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Catel-Manzke Syndrome
Glossoptosis, Short metacarpal, High palate, Narrow mouth, Cleft upper lip, Micrognathia, Short h... OMIM:616145
Histidinemia
Hyperactivity, Hyperhistidinemia, Histidinuria ORPHA:2157
Holoprosencephaly 2
Cyclopia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Chorioretinal col... 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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