Gene Summary

Name:
RAB39B, member RAS oncogene family
Synonyms:
6330580M05Rik

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
corneal opacity Rab39bem1(IMPC)Tcp HOM Late adult 7.77×10-11
abnormal cornea morphology Rab39bem1(IMPC)Tcp HEM Late adult 1.07×10-08
abnormal cornea morphology Rab39bem1(IMPC)Tcp HOM Late adult 2.29×10-11
abnormal stomach morphology Rab39bem1(IMPC)Tcp HEM Late adult 0.00
abnormal skin morphology Rab39bem1(IMPC)Tcp HEM Early adult 0.00
corneal opacity Rab39bem1(IMPC)Tcp HEM Late adult 2.13×10-07
cataract Rab39bem1(IMPC)Tcp HOM Late adult 2.75×10-12
cataract Rab39bem1(IMPC)Tcp HEM Late adult 1.40×10-08
decreased spleen weight Rab39bem1(IMPC)Tcp HEM   Late adult 1.47×10-05
abnormal freezing behavior Rab39bem1(IMPC)Tcp HOM   Early adult 1.88×10-06
increased circulating aspartate transaminase level Rab39bem1(IMPC)Tcp HOM   Early adult 6.99×10-05
abnormal liver morphology Rab39bem1(IMPC)Tcp HOM Late adult 0.00
hydrometra Rab39bem1(IMPC)Tcp HOM Late adult 0.00
small ovary Rab39bem1(IMPC)Tcp HOM Late adult 0.00
abnormal lens morphology Rab39bem1(IMPC)Tcp HOM Late adult 7.71×10-12
abnormal lens morphology Rab39bem1(IMPC)Tcp HEM Late adult 7.20×10-07
enlarged urinary bladder Rab39bem1(IMPC)Tcp HEM Late adult 0.00
increased leukocyte cell number Rab39bem1(IMPC)Tcp HOM   Late adult 2.48×10-05
abnormal auditory brainstem response Rab39bem1(IMPC)Tcp HOM   Early adult 1.00

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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.

Eye Morphology

Images Ophthalmoscopy

176 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

10 Images

Eye Morphology

Images Slit Lamp

9 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Rab39b 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 Rab39b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Urinary incontinence, Meckel diverticulum ORPHA:777
Waisman Syndrome
Lewy bodies, Dementia, Megalencephaly OMIM:311510
Early-Onset Parkinsonism-Intellectual Disability Syndrome
ORPHA:2379
Intellectual Developmental Disorder, X-Linked 72
OMIM:300271

The table below shows human diseases predicted to be associated to Rab39b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Hepatomegaly, Microcornea, Corneal opacity ORPHA:2432
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Thrombocytopenia, Corneal opacity, Hepatomegaly ORPHA:1980
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Aniridia 3
Cataract OMIM:617142
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
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
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Anxiety, Depression, Hearing impairment OMIM:614296
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Dermoids Of Cornea
Corneal opacity OMIM:304730
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract OMIM:300719
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Spastic Paraparesis And Deafness
Hypogonadism, Cataract OMIM:312910
Galactosialidosis
Corneal opacity ORPHA:351
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Winchester Syndrome
Corneal opacity OMIM:277950
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, High palate, Cataract OMIM:614882
Nathalie Syndrome
Cataract ORPHA:2663
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Cataract ORPHA:2815
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... ORPHA:98964
X-Linked Retinoschisis
Cataract ORPHA:792
Morquio Syndrome C
Corneal opacity OMIM:252300
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Galactosemia Ii
Prolonged neonatal jaundice, Galactosuria, Cataract OMIM:230200
Stickler Syndrome Type 2
Cleft palate, Corneal opacity, Cataract ORPHA:90654
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Posterior embryotoxon, Hematuria, Iris coloboma, Corneal opacity,... ORPHA:1473
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Opacification of the corneal stroma, Recurrent corn... ORPHA:98960
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Hypogonadism, Cataract OMIM:254000
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Trichomegaly
Cataract OMIM:190330
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Ring Dermoid Of Cornea
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... OMIM:180550
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Cataract ORPHA:1875
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Developmental cataract, Micropenis, Corneal opacity, Cryptorchidism OMIM:618815
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Cataract OMIM:607906
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract OMIM:615995
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Ichthyosis, X-Linked
Opacification of the corneal stroma, Cryptorchidism OMIM:308100
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion OMIM:608470
Myoclonus-Dystonia Syndrome
Panic attack, Anxiety, Depression, Personality disorder ORPHA:36899
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Opacification of the cor... ORPHA:1643
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, Ty... ORPHA:290
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Cataract, Glossoptosis, Jaundice OMIM:614876
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology, Corneal opacity, Unilateral renal agenesis, Renal in... ORPHA:281090
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microcornea, Cataract ORPHA:2528
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Erythrokeratodermia Variabilis
Abnormal testis morphology, Corneal opacity, Cataract, Diabetes mellitus ORPHA:317
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria, Jaundice ORPHA:79238
Mucolipidosis Type Iii
Cleft palate, Corneal opacity ORPHA:577
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Aniridia, Abnormality of t... OMIM:194072
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Achlorhydria OMIM:252650
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Corneal opacity, Splenomegaly ORPHA:79292
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Alpha-Mannosidosis
Hepatomegaly, Macroglossia, Splenomegaly, Narrow palate, Corneal opacity, Cataract ORPHA:61
Familial pterygium of the conjunctiva
Opacification of the corneal stroma ORPHA:2989
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Nephropathy, Splenomegaly ORPHA:87876
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Male hypogona... OMIM:240950
Premature Ovarian Failure 5
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... OMIM:611548
Limbal Stem Cell Deficiency
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... ORPHA:171673
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... ORPHA:293603
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Anal atresia ORPHA:2310
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Increased circulat... ORPHA:2410
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear/anxiety-related behavior, Aggressive behavior, Suicidal ideation, Hearing impairment ORPHA:208441
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Senior-Loken Syndrome
Congenital hepatic fibrosis, Cataract, Premature ovarian insufficiency ORPHA:3156
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Corneal opacity, Cataract, Cryptorchidism, Decreased testicular size ORPHA:1867
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Abnormal intestine morphology, Hepatic fibrosis, Cirrhosis, Cholestasis, Cataract OMIM:609313
Morm Syndrome
Micropenis, Cataract ORPHA:75858
Nathalie Syndrome
Cataract OMIM:255990
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Anemia, Acute hepatitis, Splenomegal... ORPHA:905
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Aplasia/Hypoplasia of the lens, Anal atresia, Cataract, Hypoplasia of penis ORPHA:1381
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract ORPHA:2489
Jeavons Syndrome
EEG with focal epileptiform discharges, Interictal epileptiform activity, Continuous spike and wa... ORPHA:139431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Corneal opacity, Cataract OMIM:613153
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Proteinuria, Opacification of the corneal stroma, Hemolytic anemia, Renal in... OMIM:245900
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Premature Ovarian Failure 18
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... OMIM:619203
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cataract, Cholestasis ORPHA:570422
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis, Cataract, Impotence, Diabetes mellitus OMIM:606069
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... ORPHA:98974
Premature Ovarian Failure 6
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Streak ovary, Fema... OMIM:612310
Cataract 11, Multiple Types
Cataract OMIM:610623
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... ORPHA:98973
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Aplasia/Hypoplasia of the iris, Vesicoureteral reflux ORPHA:137902
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Zellweger Syndrome
Pyloric stenosis, Hepatomegaly, Hypospadias, High palate, Hydronephrosis, Posterior embryotoxon, ... ORPHA:912
Galactosemia I
Hepatomegaly, Cirrhosis, Decreased liver function, Cataract, Premature ovarian insufficiency, Hyp... OMIM:230400
Macular Corneal Dystrophy
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... ORPHA:98969
Granular Corneal Dystrophy Type Ii
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... ORPHA:98963
Alpha-Mannosidosis, Adult Form
Macroglossia, Oligosacchariduria, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, Re... ORPHA:309288
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Cleft palate, Cataract OMIM:120433
Juvenile Sialidosis Type 2
Hepatomegaly, Dysphagia, Hepatosplenomegaly, Corneal opacity, Cataract, Protruding tongue, Viscer... ORPHA:93399
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Proximal renal tubular acidosis, Band keratopathy, Cataract, Bicarbonate-wasting renal tubular ac... OMIM:604278
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Myopic astigmatism, Corneal opacity, Cataract, Astigmatism, Microcornea OMIM:152950
Laurence-Moon Syndrome
Type II diabetes mellitus, Congenital hepatic fibrosis, Iris coloboma, Displacement of the urethr... ORPHA:2377
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Leber Congenital Amaurosis 1
Hepatomegaly, Keratoconus, Hyperthreoninuria, Cataract OMIM:204000
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Cryptorchidism, Cataract OMIM:613730
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Splenomegaly, Corneal opacity, Cataract, Aminoa... ORPHA:812
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Thrombocytopenia, Iris hypopigmentation, Cataract ORPHA:67048
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Oculocerebral Hypopigmentation Syndrome Of Preus
High, narrow palate, High palate, Cataract, Hypochromic anemia OMIM:257790
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Bartsocas-Papas Syndrome 2
Bilateral cleft lip and palate, Popliteal pterygium, Antecubital pterygium, Corneal opacity, Axil... OMIM:619339
Galactosemia
Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... ORPHA:352
Brittle Cornea Syndrome 2
Decreased corneal thickness, Flat cornea, Sclerocornea, Keratoglobus, Megalocornea, Keratoconus OMIM:614170
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... ORPHA:98962
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Cronkhite-Canada Syndrome
Hepatomegaly, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption,... ORPHA:2930
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Lcat Deficiency
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Cornea... ORPHA:650
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma, Cryptorchidism ORPHA:461
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity, Isosexual precocious puberty ORPHA:2788
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Sclerocornea, Cataract, Microcornea, Precocious puberty, Ectopia pupillae OMIM:615877
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Corneal opacity, Cataract, Delayed puberty ORPHA:496790
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Epithelial Recurrent Erosion Dystrophy
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... ORPHA:293381
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Cataract, Hypergonadotropic ... ORPHA:3085
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Cataract, ... ORPHA:791
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Vaginal neoplasm, Cataract, Uterine leiomyoma ORPHA:523
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Cataract OMIM:268050
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Cutis Laxa, Autosomal Dominant 3
Developmental cataract, Corneal opacity, Unilateral renal agenesis OMIM:616603
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Developmental cataract, Cataract OMIM:619420
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Congenital Primary Aphakia
Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
46,Xx Gonadal Dysgenesis
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Delayed puberty, Decreased ... ORPHA:243
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Midgut malrotation, Cleft palate, Abnormality of the abdom... ORPHA:2409
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Focal EEG discharges with secondary ... ORPHA:3077
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Cystinosis
Renal tubular dysfunction, Malabsorption, Corneal opacity, Proteinuria, Nephropathy, Aminoaciduri... ORPHA:213
Corneal Endothelial Dystrophy
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... OMIM:217700
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Displacement of the urethral meatus, Ambiguous genitalia, Catarac... ORPHA:893
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis, Cleft palate, Duodenal atresia, Sclerocornea, Peters ... OMIM:243605
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Increased urinary disaccharide excretion OMIM:271630
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Classic Galactosemia
Decreased fertility in females, Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Decreased ser... ORPHA:79239
Galactokinase Deficiency
Nuclear cataract, Hepatomegaly, Hepatosplenomegaly, Cataract, Premature ovarian insufficiency, Hy... ORPHA:79237
Scheie Syndrome
Corneal opacity OMIM:607016
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Abnormality of the hypothalamus-pituitary axis, Iris coloboma, Cataract, Cryptorchi... ORPHA:139471
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Splenomegaly OMIM:607015
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Cryptorchidism, External genital hypoplasia, Cataract ORPHA:363741
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Congenital Sialidosis Type 2
Hepatomegaly, Developmental cataract, Hepatosplenomegaly, Corneal opacity, Cataract, Protruding t... ORPHA:93400
Multiple Sulfatase Deficiency
Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Corneal opacity, Cataract ORPHA:585
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Scheie Syndrome
Hepatomegaly, Mucopolysacchariduria, Corneal opacity, Splenomegaly ORPHA:93474
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... ORPHA:137599
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... OMIM:618841
Frasier Syndrome
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... ORPHA:347
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Autosomal Recessive Spastic Paraplegia Type 26
Cataract, Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Abnormal pupil morphology, Corneal opacity, Megalo... ORPHA:3163
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Gastric varix, Splenomegaly, Nodu... ORPHA:64743
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
Pseudo-Torch Syndrome 1
Hepatomegaly, High palate, Thrombocytopenia, Splenomegaly, Cataract, Opacification of the corneal... OMIM:251290
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Cataract, Delayed puberty OMIM:615704
Mietens Syndrome
Sclerocornea, Microcornea, Corneal opacity, Cataract ORPHA:2557
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Hepatomegaly, Thrombocytopenia, Leukopenia, Micropenis, Corneal opacity, Elevated he... OMIM:301056
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Cataract ORPHA:3173
Congenital Tufting Enteropathy
Villous atrophy, Corneal erosion, Malabsorption, Punctate keratitis, Anal atresia, Abnormal small... ORPHA:92050
Hereditary Mucoepithelial Dysplasia
Hematuria, Corneal dystrophy, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Cata... ORPHA:1839
Serrated Polyposis Syndrome
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc... ORPHA:157798
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Brushfield spots, Intrahepatic biliary dysgenesis, Splenomegaly, Clitoral hypertrop... OMIM:614866
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Emotional lability, Irritability, Prolonged brainstem audito... ORPHA:206443
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Corneal opacity, Developmental glaucoma, Unilateral renal agenesis ORPHA:1064
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity, Ambiguous genitalia, Hypoplastic male external genitalia ORPHA:1234
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Corneal opacity, Cataract ORPHA:2399
Retinitis Pigmentosa 84
Cataract OMIM:618220
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Cryptorchidism, Cataract OMIM:601794
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... OMIM:221900
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529808
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529799
Wilson Disease
Hepatomegaly, Dysphagia, Renal tubular dysfunction, Hyperphosphaturia, Esophageal varix, Hepatoce... OMIM:277900
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Secondary growth hormone deficiency, Hypoplasia of the ovary, Abse... ORPHA:2235
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Focal segmental glomeru... ORPHA:1830
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Keratitis, Conjunctivitis OMIM:602562
Oculomaxillofacial Dysostosis
Cleft palate, Corneal opacity ORPHA:1794
Pellagra-Like Syndrome
Cataract OMIM:260650
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... OMIM:613270
Cornea Plana 2, Autosomal Recessive
Decreased corneal thickness, Corneal arcus, Flat cornea OMIM:217300
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Hypoplasia of the thymus, Brushfield spots, Intrahepatic biliary dysgenesis, Clitor... OMIM:214110
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Corneal opacity, Proteinuria, Nephropathy ORPHA:1765
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
8Q21.11 Microdeletion Syndrome
Sclerocornea, Corneal opacity, Cataract, Iris hypopigmentation, Cryptorchidism, Hypoplasia of penis ORPHA:284160
Walker-Warburg Syndrome
Cleft palate, Bifid uvula, Iris coloboma, Corneal opacity, Cataract, Microcornea, Hypoplasia of p... ORPHA:899
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Opacification of the corneal stroma, Macronodular cirrhosis OMIM:215250
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Bardet-Biedl Syndrome
Hepatic fibrosis, Hypoplasia of the ovary, Hypogonadism, Cryptorchidism, Hypoplasia of penis ORPHA:110
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Keratitis, Chemosis, Corneal opacity, Corneal neovascularization ORPHA:163934
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Fryns Syndrome
Hypospadias, Hydronephrosis, Cleft palate, High palate, Duodenal atresia, Aganglionic megacolon, ... ORPHA:2059
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Dysphagia, Conjunctivitis ORPHA:411777
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea ORPHA:1806
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Joubert Syndrome 9
Astigmatism, Cataract, Stage 5 chronic kidney disease, Hepatic fibrosis OMIM:612285
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Opacification of the corneal stroma OMIM:204850
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Adrenal insufficiency, Decreased circulating aldosterone level, Hypopar... OMIM:240300
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Fucosidosis
Hepatomegaly, Corneal opacity, Abnormality of the gallbladder, Hypothyroidism ORPHA:349
Galactosialidosis
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia, Visceromegaly OMIM:256540
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Chondrodysplasia Punctata 1, X-Linked Recessive
Hypogonadism, Cataract OMIM:302950
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma, Mucopolysacchariduria OMIM:252700
3Q29 Microduplication Syndrome
Cleft palate, High palate, Ectopic anus, Sclerocornea, Aniridia, Iris coloboma, Cataract ORPHA:251038
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal fear/anxiety-related behavior, Apathy, Hearing impairment, Anxiety, Increa... ORPHA:100924
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Corneal opacity, Astigmatism, Cryptorchidism, ... ORPHA:2323
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma OMIM:615145
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Sclerocornea, Esophageal atresia, Iris coloboma, Tracheoesophageal fistula, Hypoplas... ORPHA:77298
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellulari... ORPHA:381
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
Mosaic Trisomy 9
Asplenia, Hypoplastic female external genitalia, Abnormality of the uterus, Abnormal liver lobula... ORPHA:99776
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Hurler Syndrome
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Corneal opacity, Urinary glycosaminoglycan excret... OMIM:607014
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... ORPHA:70476
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Cataract, Hypogonadism OMIM:160900
Proximal Myotonic Myopathy
Cataract ORPHA:606
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Primar... OMIM:269200
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Anemia, Corneal opacity, Cataract, Iris hypopigmentation, Cryptorchidism ORPHA:2719
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Cataract, Hemolytic anemia, Jaundice OMIM:608885
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Type II diabetes mellitus, Cholelithiasis, Cholestatic liver disease, Hypog... ORPHA:79095
Scleroderma
Abnormality of the small intestine, Abnormal large intestine morphology, Chronic kidney disease, ... ORPHA:801
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Farber Disease
Thrombocytopenia, Hepatic fibrosis, Elevated hepatic transaminase, Anemia, Intrahepatic cholestas... ORPHA:333
Tangier Disease
Left ventricular hypertrophy, Opacification of the corneal stroma, Hepatomegaly, Splenomegaly OMIM:205400
Peroxisome Biogenesis Disorder 10B
Prolonged neonatal jaundice, Cataract, Neurogenic bladder, Nephrocalcinosis OMIM:617370
Oculocerebrocutaneous Syndrome
Cryptorchidism, Corneal opacity, Iris coloboma ORPHA:1647
Multiple Sulfatase Deficiency
Hepatomegaly, Mucopolysacchariduria, Corneal opacity, Splenomegaly OMIM:272200
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Jaundice, Anemia of i... ORPHA:231222
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... ORPHA:2232
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Mucopolysaccharidosis Type 7
Hepatitis, Mucopolysacchariduria, Corneal opacity, Splenomegaly ORPHA:584
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Neoplasm of the... ORPHA:2959
Carpenter Syndrome
Abnormal reproductive system morphology, External genital hypoplasia, Abnormal cornea morphology,... ORPHA:65759
Familial Dysautonomia
Corneal erosion, Abnormality of the peritoneum, Heterochromia iridis, Abnormal pupil morphology, ... ORPHA:1764
Gm1 Gangliosidosis
Dysphagia, Macroglossia, Splenomegaly, Hepatosplenomegaly, Corneal opacity, Gastroesophageal reflux ORPHA:354
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Dysphagia, Corneal scarring, Spontaneous esophageal perforation, Anemia, Esophageal stricture, Ca... OMIM:226600
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chronic kidney disease, Anteri... OMIM:203780
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Peters anomaly, Vesicoureteral reflux OMIM:120200
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Labial hypoplasia, Opacification of the corneal stroma, Hypoplastic nipples, Cataract OMIM:211370
Dystonia, Juvenile-Onset
Achalasia, Cleft palate, Cataract OMIM:607371
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Sclerocornea, Chordee, Iris coloboma, Clitoral hypertrophy, Micropenis, Cataract, Ov... OMIM:309801
Neurotrophic Keratopathy
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Cornea... ORPHA:137596
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion, Ulcerative colitis OMIM:614878
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Macroglossia, Splenomegaly, Corneal opacity, Urinary glycosaminoglycan excretion, D... OMIM:253220
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Triploidy
Hypospadias, Hepatomegaly, Abnormality of the gallbladder, Iris coloboma, Abnormality of the panc... ORPHA:3376
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Anterior chamber synechiae, Anal stenosis, Opacification of the corneal stroma, Micr... OMIM:601499
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Thrombocytopenia, Astigmatism, Anemia, Elevated circulat... OMIM:242900
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... ORPHA:96125
Al-Gazali Syndrome
Sclerocornea, Hydronephrosis, Corneal opacity OMIM:609465
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Cataract, Glossitis, Hamartomatous... OMIM:175500
Meckel Syndrome
True hermaphroditism, Pancreatic cysts, Asplenia, Cystic liver disease, Sclerocornea, Urethral at... ORPHA:564
Aniridia 2
Aniridia, Cataract OMIM:617141
3Mc Syndrome 3
Bifid scrotum, Penoscrotal hypospadias, Micropenis, Corneal opacity, Cryptorchidism OMIM:248340
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Warburg Micro Syndrome 2
Hypoplastic labia majora, Developmental cataract, Micropenis, Cataract, Cryptorchidism, Microcornea OMIM:614225
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Precocious puberty OMIM:163200
Mucopolysaccharidosis Type 1
Mucopolysacchariduria, Abnormality of the tonsils, Malabsorption, Splenomegaly, Corneal opacity ORPHA:579
Caroli Disease
Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Sp... ORPHA:53035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Opacification of the corneal stroma, Micropenis, Decreased testicular size OMIM:615287
Hypoparathyroidism, Familial Isolated, 1
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Cataract OMIM:146200
Lathosterolosis
Hepatomegaly, Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology, Cataract, Hepa... ORPHA:46059
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Posterior embryotoxon, Microphakia, Sclerocornea, Iris colobom... OMIM:612109
Tangier Disease
Orange discolored tonsils, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Corneal opac... ORPHA:31150
Gracile Bone Dysplasia
Asplenia, Aniridia, Ankyloglossia, Micropenis, Hypoplastic spleen OMIM:602361
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... ORPHA:2494
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Cleft palate, Duodenal atresia, Stomach cancer, Multicystic kidney ... ORPHA:1052
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Esophageal neoplasm, Morphological abnormality of the gastrointestinal tract, Chronic ... ORPHA:1018
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Genitourinary And/Or Brain Malformation Syndrome
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... OMIM:618820
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Hypoplasia of the iris, Sclerocornea, Cryptorchidism, Abnormal anterior chamber m... OMIM:613001
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Abnormality of the anus, Phimosis, Esophagitis, A... ORPHA:2908
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly ORPHA:664
Reynolds Syndrome
Keratoconjunctivitis sicca, Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostom... ORPHA:779
Infantile Krabbe Disease
Optic atrophy, Inappropriate crying, Decreased nerve conduction velocity, Hearing impairment, Irr... ORPHA:206436
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Brittle Cornea Syndrome 1
Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Keratoconus OMIM:229200
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... ORPHA:1916
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Abnormal urinary colo... ORPHA:234
Mucopolysaccharidosis Type 3
Hepatomegaly, Dysphagia, Mucopolysacchariduria, Macroglossia, Cardiomegaly, Malabsorption, Spleno... ORPHA:581
Bronchogenic Cyst
Dysphagia, Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Mucoepithelial Dysplasia, Hereditary
Hematuria, Melena, Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivi... OMIM:158310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Peters anomaly, Corneal opacity, Cataract, Megalocornea, Hypoplastic male external g... OMIM:236670
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Chronic kidne... ORPHA:90291
Werner Syndrome
Hypogonadism, Cataract, Diabetes mellitus OMIM:277700
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Polycystic ovaries, Splenomegaly, Heterochromia iridis, Abnor... ORPHA:2969
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Corneal ulceration, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarc... ORPHA:480520
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Focal Dermal Hypoplasia
Horseshoe kidney, Hydronephrosis, Duodenal atresia, Hypoplasia of the iris, Ectopia lentis, Iris ... ORPHA:2092
Mucopolysaccharidosis Type 6
Macroglossia, Opacification of the corneal stroma, Mucopolysacchariduria, Splenomegaly ORPHA:583
Hurler Syndrome
Hepatomegaly, Mucopolysacchariduria, Macroglossia, Abnormality of the tonsils, Splenomegaly, Corn... ORPHA:93473
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Hydronephrosis, Increased mean platelet volume, Intestinal pseudo-obstruction, ... OMIM:300048
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Hypospadias, Hydronephrosis, Duodenal atresia, Pelvic kidney, Renal cyst, Micro... ORPHA:464306
Leiomyomatosis, Diffuse, With Alport Syndrome
Dysphagia, Abnormal renal physiology, Hematuria, Stage 5 chronic kidney disease, Anterior lentico... OMIM:308940
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Mucolipidosis Iii Gamma
Opacification of the corneal stroma OMIM:252605
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Renal insufficiency, Cataract, Nephropathy OMIM:247410
Mosaic Trisomy 8
Hydronephrosis, Cleft palate, High palate, Corneal opacity, Vesicoureteral reflux ORPHA:96061
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Microgastria, Horseshoe kidney, Aganglionic megacolon, Asplenia, Pelvic k... OMIM:156810
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Dysphagia, High palate, Hydronephrosis, Cataract, Aminoaciduria, Gastroesophage... OMIM:617913
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cleft palate, Aganglionic megacolon, Keratitis, Multicystic kidney dysplasia, Unilateral renal ag... OMIM:308205
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Hepatomegaly, Brushfield spots, Intrahepatic biliary dysgenesis, Clitoral hypertroph... OMIM:214100
Fabry Disease
Nephrotic syndrome, Hematuria, Conjunctival telangiectasia, Anemia, Corneal dystrophy, Malabsorpt... ORPHA:324
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Anal atresia, Opacification... OMIM:612582
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Hydronephrosis, Duodenal atresia, Pelvic kidney, Renal cyst, Micropenis, Corneal opa... ORPHA:464311
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma, Renal insufficiency OMIM:113470
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Abnormality of the spleen, Hepatomegaly, Horseshoe kidney, Rectov... ORPHA:2538
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Keratoconjunctivitis sicca, Hypospadias, Buphthalmos, Hypoplastic labia minora, Absent scrotum, C... ORPHA:495875
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
Histiocytoid Cardiomyopathy
Hepatomegaly, Congenital aphakia, Polycystic ovaries, Corneal opacity, Megalocornea ORPHA:137675
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ... OMIM:110100
Agel Amyloidosis
Keratoconjunctivitis sicca, Xerostomia, Stage 5 chronic kidney disease, Abnormal spleen morpholog... ORPHA:85448
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Corneal opacity ORPHA:582
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen ORPHA:89844
Gaucher Disease, Type Iiic
Hepatomegaly, Cardiomegaly, Splenomegaly, Pancytopenia, Opacification of the corneal stroma OMIM:231005
Alpha-Mannosidosis, Infantile Form
Macroglossia, Oligosacchariduria, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, As... ORPHA:309282
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Gastric ulcer, Esophageal varix, Hepatic fibrosis, Anemia, Cholelithia... ORPHA:2072
Microphthalmia, Syndromic 5
Microcornea, Micropenis, Cataract, Cryptorchidism, Ectopic posterior pituitary OMIM:610125
Pearson Syndrome
Neutropenia, Lacticaciduria, Splenomegaly, Steatorrhea, Pancytopenia, Corneal stromal edema, Bone... ORPHA:699
Congenital Disorder Of Deglycosylation 1
Impaired oral bolus formation, Hepatomegaly, Impaired oropharyngeal swallow response, Corneal opa... OMIM:615273
Tbck-Related Intellectual Disability Syndrome
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Hyperthyroi... ORPHA:488632
Moebius Syndrome
Breast aplasia, Hypogonadotropic hypogonadism, Corneal opacity ORPHA:570
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Hardikar Syndrome
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:301068
Gomez-Lopez-Hernandez Syndrome