Gene Summary

Name:
solute carrier family 2 (facilitated glucose transporter), member 5
Synonyms:
GLUT5

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 exploration in new environment Slc2a5tm1b(EUCOMM)Wtsi HOM Early adult 7.28×10-10
cataract Slc2a5tm1b(EUCOMM)Wtsi HOM Early adult 1.62×10-10
enlarged spleen Slc2a5tm1b(EUCOMM)Wtsi HOM Late adult 0.00
enlarged lymph nodes Slc2a5tm1b(EUCOMM)Wtsi HOM Late adult 0.00
abnormal retina morphology Slc2a5tm1b(EUCOMM)Wtsi HOM Early adult 9.18×10-08
hydrometra Slc2a5tm1b(EUCOMM)Wtsi HOM Late adult 0.00
persistence of hyaloid vascular system Slc2a5tm1b(EUCOMM)Wtsi HOM Early adult 1.77×10-05
abnormal seminal vesicle morphology Slc2a5tm1b(EUCOMM)Wtsi HOM Late adult 0.00
abnormal ovary morphology Slc2a5tm1b(EUCOMM)Wtsi HOM Late adult 0.00
abnormal lens morphology Slc2a5tm1b(EUCOMM)Wtsi HOM Early adult 9.27×10-12

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Electrocardiogram (ECG)

Waveform Image

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

29 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Slc2a5 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc2a5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular coloboma, Macular atrophy OMIM:618220
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Cognitive impairment, Retinal dystrophy OMIM:615995
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Aniridia 3
Cataract OMIM:617142
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Wagner Vitreoretinopathy
Vitreoretinopathy, Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Cataract, Per... OMIM:143200
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Retinitis Pigmentosa 40
Rod-cone dystrophy, Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract, Aggressive behavior ORPHA:75858
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cataract, Retinal detachment, Cystoid mac... ORPHA:179
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Retinal dystrophy, Iris co... OMIM:212550
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Dementia, Retinal detachment, Retinal... OMIM:310600
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Trichomegaly
Cataract OMIM:190330
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Exudative Vitreoretinopathy 5
Retinal exudate, Shallow anterior chamber, Exudative vitreoretinopathy, Tractional retinal detach... OMIM:613310
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Retinitis Pigmentosa 4
Pigmentary retinopathy, Cataract, Rod-cone dystrophy OMIM:613731
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Iv
Cataract OMIM:618881
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Anxiety, Dementia, Cataract, Rod-cone dystrophy, Macular degeneration,... OMIM:204200
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Cataract, Cystoid macular edema, Rod-cone ... OMIM:611040
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment ORPHA:35737
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy OMIM:616171
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Abnormality of retinal pigmentation, Cataract, Retinal detachment, Retin... OMIM:251270
Galactosemia Ii
Cataract OMIM:230200
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:601813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Retinitis Pigmentosa 77
Retinal atrophy, Rod-cone dystrophy, Cystoid macular edema, Posterior subcapsular cataract OMIM:617304
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Macular dystrop... ORPHA:75376
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal e... OMIM:133780
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of the e... ORPHA:83461
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Astigmatism, Retinal detachment, Retin... OMIM:616188
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Aniridia 2
Cataract, Aniridia OMIM:617141
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma OMIM:157151
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Cataract 16, Multiple Types
Retinal dystrophy, Developmental cataract, Posterior polar cataract OMIM:613763
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Retinal dysplasia, Optic atrophy OMIM:613154
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Dementia, Cataract, Cognitive impairment, Optic atrophy ORPHA:329314
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Choriocapillaris atrophy OMIM:613835
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... ORPHA:457083
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract OMIM:120433
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis ORPHA:324416
Retinitis Pigmentosa 23
Rod-cone dystrophy, Posterior subcapsular cataract OMIM:300424
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Posterior subcapsular cataract OMIM:615434
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:311360
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Genital ulcers, Aplasia of the thymus OMIM:602450
Cataract 47
Microcornea, Cataract OMIM:612018
Ovarian Fibroma
Mesenteric cyst, Abnormality of the ovary, Peritonitis, Gonadal calcification, Ascites, Ovarian f... ORPHA:314473
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Cataract, Chorioretinal degeneration, Pigmentary retinopa... OMIM:312600
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy OMIM:618495
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Retinitis Pigmentosa 83
Asteroid hyalosis, Cystoid macular edema, Rod-cone dystrophy, Bone spicule pigmentation of the re... OMIM:618173
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level OMIM:615724
Premature Ovarian Failure 19
Premature ovarian insufficiency OMIM:619245
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Cataract, Lens subluxation, Optic disc coloboma, Iris coloboma OMIM:216820
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Cystoid macular degeneration, Macular atrophy OMIM:267760
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of ... OMIM:204000
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Retinitis Pigmentosa 46
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Streak ovary, Reduced antral follicle c... OMIM:611548
Nathalie Syndrome
Cataract OMIM:255990
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
46,Xy Sex Reversal 11
Aplasia of the uterus, Elevated circulating luteinizing hormone level, Abnormal internal genitali... OMIM:273250
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Cryptorchidism, Microp... ORPHA:755
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612964
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Cataract 11, Multiple Types
Cataract OMIM:610623
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Dwarfism With Stiff Joints And Ocular Abnormalities
Cataract, Retinal detachment OMIM:127200
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Enhanced S-Cone Syndrome
Vitreoretinopathy, Cataract, Pigmentary retinopathy, Macular edema, Retinoschisis OMIM:268100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormality of the optic disc ORPHA:65
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy OMIM:616562
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Azoospermia, Cryptorchidism, Micropenis, ... OMIM:614837
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Premature Ovarian Failure 2B
Premature ovarian insufficiency OMIM:300604
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Peroxisome Biogenesis Disorder 8B
Retinal dystrophy, Cataract, Cognitive impairment, Optic atrophy OMIM:614877
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Retinitis Pigmentosa 25
Rod-cone dystrophy, Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the re... OMIM:602772
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Retinitis Pigmentosa 10
Geographic atrophy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retin... OMIM:180105
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Cognitive impairment, Optic atrophy OMIM:270800
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis, Hypogonadism OMIM:613313
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Flynn-Aird Syndrome
Dementia, Rod-cone dystrophy, Cataract OMIM:136300
Proximal Myotonic Myopathy
Cataract ORPHA:606
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Intermediate Uveitis
Macular scar, Band keratopathy, Optic neuritis, Vitreous haze, Cataract, Cystoid macular edema, P... ORPHA:279914
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract OMIM:268050
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Peritonitis, Gonadal calcification, Asc... ORPHA:314478
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Cataract, Cho... ORPHA:414
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigmatism, Corneal opacity, Catara... OMIM:152950
Retinitis Pigmentosa 43
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the r... OMIM:613810
Linear Verrucous Nevus Syndrome
Retinopathy, Abnormal cornea morphology, Iris coloboma, Cataract, Mental deterioration, Aplasia/H... ORPHA:2611
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism, Retinal detachment, Vitreoretinopathy ORPHA:250984
Testicular Agenesis
Absent testis, Micropenis, Increased circulating gonadotropin level, Absent external genitalia, A... ORPHA:325124
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619203
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Vogt-Koyanagi-Harada Disease
Cataract, Cognitive impairment, Retinal detachment ORPHA:3437
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Cognitive impairment, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Phenylketonuria
Anxiety, Cataract, Blue irides, Aggressive behavior, Irritability, Self-mutilation OMIM:261600
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Premature Ovarian Failure 10
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:612885
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Retinal coloboma, Morning glory anomaly, Scleroco... OMIM:612109
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619665
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated circulating follicle s... OMIM:615723
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpho... ORPHA:168563
Usher Syndrome Type 3
Cataract, Anxiety, Astigmatism, Iris hypopigmentation ORPHA:231183
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Isolated Ectopia Lentis
Cognitive impairment, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Maternally-Inherited Diabetes And Deafness
Retinopathy, Cataract, Macular dystrophy, Abnormal chorioretinal morphology ORPHA:225
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Bardet-Biedl Syndrome 9
Retinal degeneration, Cataract, Astigmatism, Rod-cone dystrophy, Bone spicule pigmentation of the... OMIM:615986
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Pellagra-Like Syndrome
Cataract OMIM:260650
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract OMIM:614879
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Cirrhosis OMIM:602390
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Hypoplasia of... OMIM:614841
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Cataract, Keratoconus, Optic atrophy, Abnormal retinal vascu... ORPHA:791
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Congenital Varicella Syndrome
Cataract ORPHA:291
Retinitis Pigmentosa 72
Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor, Posterior subcapsular cataract OMIM:616469
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Cataract, Retinal detachment OMIM:604841
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune hemolytic anemia, Autoimmune thrombocytope... OMIM:618534
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Azoospermia, Elevated circulating luteinizing hormon... ORPHA:90797
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Cataract, Corneal opacity, Retinal detachment OMIM:613153
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Cataract, Retinal detachment ORPHA:90653
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Vaginal Atresia
Vaginal hematocele, Pelvic mass, Uterus didelphys, Abdominal mass, Vaginal atresia, Transverse va... ORPHA:65681
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency OMIM:617175
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Anemia, Lymphadenopathy, Abnormality of the ... ORPHA:83469
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Idiopathic Panuveitis
Vitreous haze, Cataract, Cystoid macular edema, Posterior synechiae of the anterior chamber, Chor... ORPHA:280921
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymph nodes, Abnormality of the pancreas, Neutrophilia, Anemia, Liver abscess,... ORPHA:54251
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Cataract, Retinal detachment, Lens subluxation ORPHA:93296
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Severe Early-Childhood-Onset Retinal Dystrophy
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal degen... ORPHA:364055
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:619146
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmu... OMIM:615559
Nance-Horan Syndrome
Microcornea, Cataract, Retinal detachment ORPHA:627
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper... OMIM:300853
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Ane... ORPHA:848
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Papillorenal Syndrome
Morning glory anomaly, Cataract, Retinal detachment, Chorioretinal atrophy, Macular degeneration,... OMIM:120330
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Optic disc pallor ORPHA:3173
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Abnormality of the urethra, Polycystic ovaries ORPHA:2795
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Chromosome Xp11.3 Deletion Syndrome
Attenuation of retinal blood vessels, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Optic... OMIM:300578
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the u... ORPHA:3130
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Coloboma, Rod-cone dystrophy, Optic atrophy ORPHA:324737
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Joubert Syndrome 9
Retinal dystrophy, Cataract, Astigmatism OMIM:612285
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Monilethrix
Cataract, Cognitive impairment ORPHA:573
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Microcornea, Cataract, Retinal dystrophy, Iris coloboma ORPHA:139471
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl... OMIM:619151
Classic Phenylketonuria
Memory impairment, Self-injurious behavior, Cataract, Motor deterioration, Mental deterioration ORPHA:79254
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Microphthalmia, Syndromic 5
Microcornea, Cataract, Optic nerve hypoplasia, Coloboma, Retinal dystrophy OMIM:610125
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Muscle-Eye-Brain Disease
Cataract, Cognitive impairment, Optic atrophy ORPHA:588
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Immunodeficiency 32B
Splenomegaly OMIM:226990
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:240500
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Testicular atrophy, Ascit... OMIM:235200
Posterior Column Ataxia With Retinitis Pigmentosa
Attenuation of retinal blood vessels, Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Bone ... OMIM:609033
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... OMIM:607594
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Bone marrow hypocellularity, No... ORPHA:75564
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Cataract, Optic nerve hypoplasia, Optic atrophy ORPHA:163937
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Coloboma, Ectopia pupillae OMIM:615877
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Peters anomaly, Remnants... OMIM:614643
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus ORPHA:247768
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal vitreous humor morphology, Vitritis, Vitreoretinopathy, Ab... ORPHA:209959
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Prostat... ORPHA:158057
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Cataract, Mental deterioration, Memory impairment ORPHA:79095
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Cholesteryl Ester Storage Disease
Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:75234
Refsum Disease, Classic
Rod-cone dystrophy, Cataract, Retinal degeneration OMIM:266500
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Achromatopsia 3
Cataract OMIM:262300
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Hymen, Imperforate
Hydrocolpos, Hematocolpos, Imperforate hymen OMIM:237100
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Cataract, Geographic atrophy, Optic disc pallor, Macular coloboma, Macular ... OMIM:619260
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Perrault Syndrome 4
Bicornuate uterus, Premature ovarian insufficiency, Increased circulating gonadotropin level, Hyp... OMIM:615300
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Hepatosplenomegaly, Circulating nucleated red blood cells, Decre... OMIM:613673
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice, Increased mean ... OMIM:194380
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Lumbar Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Bifid uterus, Bifid scrotum, Ambiguous geni... ORPHA:83628
Otodental Syndrome
Retinal coloboma, Microcornea, Cataract, Lens coloboma, Iris coloboma ORPHA:2791
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Portal hypertension, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Rapid neurologic deterioration, O... ORPHA:585
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Cataract 43
Posterior subcapsular cataract OMIM:616279
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Micronodular cir... OMIM:606003
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Cryptorchidism, Micropenis, Vaginal atresia, Pancreatic lymphangiectasis, Pul... ORPHA:1655
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis OMIM:618892
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Walker-Warburg Syndrome
Chorioretinal dysplasia, Optic atrophy, Abnormality of the optic nerve, Microcornea, Cataract, Co... ORPHA:899
Estrogen Resistance