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Gene: Vps13b MGI:1916380

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Gene Summary

Name:
vacuolar protein sorting 13B
Synonyms:
C330002D13Rik,  1810042B05Rik,  2310042E16Rik,  Coh1

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Vps13bem1(IMPC)Tcp HOM   Early adult 9.55×10-08
abnormal retina vasculature morphology Vps13bem1(IMPC)Tcp HOM Early adult 1.29×10-05
persistence of hyaloid vascular system Vps13bem1(IMPC)Tcp HOM Early adult 1.28×10-05
decreased lean body mass Vps13bem1(IMPC)Tcp HOM Early adult 4.25×10-06
impaired glucose tolerance Vps13bem1(IMPC)Tcp HOM Early adult 3.55×10-05
abnormal lens morphology Vps13bem1(IMPC)Tcp HOM Early adult 2.55×10-07
decreased circulating alkaline phosphatase level Vps13bem1(IMPC)Tcp HOM Early adult 3.13×10-10
increased mean corpuscular volume Vps13bem1(IMPC)Tcp HOM Early adult 8.47×10-06
decreased body length Vps13bem1(IMPC)Tcp HOM Early adult 3.21×10-08
male infertility Vps13bem1(IMPC)Tcp HOM Early adult 0.00
increased total body fat amount Vps13bem1(IMPC)Tcp HOM Early adult 7.49×10-07
enlarged lymph nodes Vps13bem1(IMPC)Tcp HOM Early adult 0.00
abnormal liver morphology Vps13bem1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Vps13bem1(IMPC)Tcp HOM Early adult 0.00
abnormal retina blood vessel morphology Vps13bem1(IMPC)Tcp HOM Early adult 1.29×10-05
abnormal retina morphology Vps13bem1(IMPC)Tcp HOM Early adult 1.30×10-05
small heart Vps13bem1(IMPC)Tcp HOM Early adult 0.00
decreased lymphocyte cell number Vps13bem1(IMPC)Tcp HOM   Early adult 8.81×10-05
decreased leukocyte cell number Vps13bem1(IMPC)Tcp HOM   Early adult 1.63×10-05
small spleen Vps13bem1(IMPC)Tcp HOM Early adult 0.00
increased startle reflex Vps13bem1(IMPC)Tcp HOM Early adult 2.84×10-05

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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 Slit Lamp

88 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

16 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Eye Morphology

Images Ophthalmoscopy

34 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Vps13b 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 Vps13b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... OMIM:216550
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Dela... ORPHA:193

The table below shows human diseases predicted to be associated to Vps13b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract, Infertility OMIM:300719
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Isochromosomy Yq
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Autosomal Recessive Spastic Paraplegia Type 46
Cataract, Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testi... ORPHA:320391
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone d... ORPHA:363741
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract, Chorioretinal coloboma ORPHA:2489
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Spermatogenic Failure 17
Male infertility OMIM:617214
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea OMIM:620312
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Inflamm... ORPHA:39044
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy OMIM:601794
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... ORPHA:179
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Hyperechogenic pancreas... OMIM:617052
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Morm Syndrome
Micropenis, Cataract, Retinal dystrophy, Retinal atrophy ORPHA:75858
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... ORPHA:791
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... OMIM:617021
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Knobloch Syndrome 1
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Pa... OMIM:267750
1Q21.1 Microduplication Syndrome
Cryptorchidism, Cataract, Hypospadias ORPHA:250994
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Hy... ORPHA:3085
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella OMIM:620197
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tetralogy of Fallot, Mitra... OMIM:612561
Galactokinase Deficiency
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Hyperinsulinemia, Nucl... ORPHA:79237
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... ORPHA:811
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver... ORPHA:2169
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Congenit... ORPHA:8
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Schwannomatosis, Vestibular
Retinal hamartoma, Juvenile posterior subcapsular lenticular opacities, Epiretinal membrane, Cort... OMIM:101000
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... ORPHA:637
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism ORPHA:1381
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cataract, Optic disc pallor OMIM:613730
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Premature ovarian insufficiency ORPHA:3156
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract, Hypogonadism ORPHA:2528
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Hypogonadism ORPHA:1466
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Cataract, Hypergonadotropic hypogonadism, Pigmentary retinopathy OMIM:614307
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... ORPHA:231222
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Retinal dystrophy OMIM:610156
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... ORPHA:2410
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... ORPHA:98870
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Knobloch Syndrome 2
Retinal detachment, Anterior cortical cataract, Vitreous floaters, Patent ductus arteriosus, Vitr... OMIM:618458
Wilson-Turner Syndrome
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism ORPHA:3459
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ... OMIM:300578
Wolfram Syndrome 1
Cataract, Diabetes mellitus, Diabetes insipidus, Optic atrophy, Pigmentary retinopathy, Hypothyro... OMIM:222300
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Dilated cardiomyopathy, Increa... ORPHA:261250
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Nephritis, Pyelonephritis, Oligozoospermia OMIM:314300
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... ORPHA:231226
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Erythrokeratodermia Variabilis
Diabetes mellitus, Skin rash, Corneal opacity, Cataract, Abnormal testis morphology ORPHA:317
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Cryptorchidism, Type II diabetes mellitus, Displacement of the ure... ORPHA:2377
Myotonic Dystrophy 2
Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligozoospermia, Hypog... OMIM:602668
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Di... ORPHA:231214
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretinal coloboma, A... ORPHA:139471
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Ventricular septal defect, Pure red cell aplas... ORPHA:124
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Recurren... OMIM:612444
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... OMIM:609628
Craniolenticulosutural Dysplasia
Cryptorchidism, Punctate cataract, Optic atrophy, Posterior Y-sutural cataract OMIM:607812
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Cataract, Testicular atrophy OMIM:160900
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, Pneumonia, External genital hypoplasia, Cryptorchidism, Decreased test... ORPHA:1867
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism,... OMIM:610125
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cataract, Increased circulating ferr... OMIM:606069
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Cataract ORPHA:2772
Martsolf Syndrome 2
Cataract, Hypogonadotropic hypogonadism, Developmental cataract OMIM:619420
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract, Optic nerve hypoplasia OMIM:222765
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Irregular menstruation, Astigmatism, Rod-cone ... OMIM:615986
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Lead Poisoning
Decreased female libido, Skin rash, Abnormality of the menstrual cycle, Oligozoospermia, Tubuloin... ORPHA:330015
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Ciliary Dyskinesia, Primary, 45
Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms OMIM:618801
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... OMIM:612562
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... ORPHA:300298
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Delayed puberty ORPHA:496790
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Classic Galactosemia
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, H... ORPHA:79239
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... OMIM:617091
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... OMIM:616959
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomegaly, Anis... OMIM:618278
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Infantile Spasms-Broad Thumbs Syndrome
Vaginal hernia, Cataract, Optic disc pallor ORPHA:3173
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... OMIM:619313
Rothmund-Thomson Syndrome, Type 2
Cataract, Cryptorchidism, Microcornea, Hypogonadism, Annular pancreas, Zonular cataract OMIM:268400
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Cataract, Premature ovarian ins... OMIM:240300
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Gapo Syndrome
Keratoconus, Dysmenorrhea, Optic atrophy, Oligozoospermia, Hypogonadism, Amenorrhea ORPHA:2067
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Cataract OMIM:618958
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:604250
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism ORPHA:1387
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
4H Leukodystrophy
Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, A... ORPHA:289494
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Dense posterior cortical cataract, Corneal scarring, Developmental cataract OMIM:309000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Male infertility, Bronchiectasis, Recurrent sinusitis OMIM:300991
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Chorioretinal dysplasia, Reti... ORPHA:899
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Retinal cotton wool spot, Progressive neurologic deterioration, Nodular regene... ORPHA:247691
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Eales Disease
Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic... ORPHA:40923
Warburg Micro Syndrome 2
Cataract, Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Hypo... OMIM:614225
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... ORPHA:2510
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Mevalonic Aciduria
Optic disc pallor, Cataract, Skin rash, Nuclear cataract, Morbilliform rash, Attenuation of retin... OMIM:610377
Warburg Micro Syndrome 3
Cataract, Small scrotum, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... OMIM:614222
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor... OMIM:221900
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614874
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Knee osteoarthritis, Nuclear cataract, Osteoarthri... ORPHA:2848
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Abnormal retinal morphology ORPHA:89844
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... OMIM:613179
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... ORPHA:99429
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Ataxia-Telangiectasia
Elevated hepatic transaminase, Failure to thrive, Diabetes mellitus, Abnormal testis morphology, ... ORPHA:100
Intermediate Uveitis
Anterior uveitis, Cataract, Psoriasiform dermatitis, Vitreous haze, Band keratopathy, Epiretinal ... ORPHA:279914
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora, Retinal coloboma, M... OMIM:244300
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Cataract, Pigmentary retinopathy, Hypogonadism, Type II diabetes mellitus, ... ORPHA:79095
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Stickler Syndrome, Type V
Retinal detachment, Cataract, Vitreoretinopathy OMIM:614284
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Cataract, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular ... ORPHA:127
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Castleman Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... ORPHA:160
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Hepatomegaly, Jaundice, Ly... ORPHA:276
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... ORPHA:786
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
3-Methylglutaconic Aciduria, Type Viib
Cataract, Zonular cataract, Recurrent pneumonia OMIM:616271
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Cockayne Syndrome Type 2
Cryptorchidism, Uveitis, Developmental cataract, Conjunctivitis, Male hypogonadism ORPHA:90322
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Skin rash, Pneumonia, Diabetes mellitus, Cheil... ORPHA:125
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Tubulointerstitial nephritis, Hypo... ORPHA:85450
Cataract 49
Posterior cortical cataract OMIM:619593
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Cowden Syndrome 5
Cataract, Hyperthyroidism, Thyroiditis, Angioid streaks of the fundus, Hydrocele testis, Ovarian ... OMIM:615108
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Gorlin Syndrome
Cryptorchidism, Cataract, Hypogonadotropic hypogonadism, Iris coloboma ORPHA:377
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Hypopl... OMIM:214110
Cowden Syndrome 6
Cataract, Hyperthyroidism, Thyroiditis, Angioid streaks of the fundus, Hydrocele testis, Ovarian ... OMIM:615109
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Hypogonadism OMIM:302950
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Iris coloboma, Vagin... ORPHA:3301
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Zellweger Syndrome
Cataract, Corneal opacity, Hypospadias, Abnormal chorioretinal morphology, Brushfield spots, Cryp... ORPHA:912
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
Mirage Syndrome
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Cryptorchidism, Hyperkalemia, Anemia,... OMIM:617053
Ciliary Dyskinesia, Primary, 19
Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit... OMIM:614935
Eisenmenger Syndrome
Hepatomegaly, Brain abscess, Ventricular septal defect, Elevated circulating C-reactive protein c... ORPHA:97214
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Abnormal cornea morphology... OMIM:244400
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Diabetes mellitus, Hyperaut... OMIM:209900
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Abnormal retinal morphology, Erythema nodosum,... ORPHA:228123
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:157640
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Cockayne Syndrome Type 1
Cataract, Cryptorchidism, Optic atrophy, Uveitis, Pigmentary retinopathy, Conjunctivitis, Male hy... ORPHA:90321
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Microphthalmia, Lenz Type
Cataract, Hypospadias, Cryptorchidism, Optic disc coloboma, Microcornea, Chorioretinal coloboma, ... ORPHA:568
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Cataract OMIM:608093
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Cataract, Optic atrophy, Ambiguous genitalia, Clitoral hypertrophy ORPHA:543470
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... ORPHA:2334
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Werner Syndrome
Diabetes mellitus, Cataract, Hypogonadism, Retinal degeneration OMIM:277700
Cowden Syndrome 1
Cataract, Hyperthyroidism, Thyroiditis, Angioid streaks of the fundus, Hydrocele testis, Ovarian ... OMIM:158350
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Cryptorch... OMIM:236670
Werner Syndrome
Abnormality of retinal pigmentation, Cataract, Decreased fertility, Secondary amenorrhea, Ovarian... ORPHA:902
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Cataract, Cryptorchidism, Hypothyroidism ORPHA:85321
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Micropenis OMIM:614230
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Harrod Syndrome
Cryptorchidism, Cataract, Hypospadias ORPHA:2115
Triploidy
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Ambiguous genitalia, Iris coloboma ORPHA:3376
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm ORPHA:523
Behcet Syndrome
Genital ulcers, Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Chorioretinitis, Iritis... OMIM:109650
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Cardiomegaly, Progressive psychomotor deterioration, ... OMIM:268800
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Arthritis, Infertility, Erectil... ORPHA:465508
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Cataract, Hypogonadism, Pigmentary retinopathy OMIM:610651
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, L... ORPHA:277
Transketolase Deficiency
Cataract, Seborrheic dermatitis, Patent ductus arteriosus, Secondary amenorrhea, Uveitis, Conjunc... ORPHA:488618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating creatine kinase ... OMIM:253800
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Celluli... OMIM:618986
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Patent ductus arteriosus, Cataract OMIM:620327
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... OMIM:185070
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Eczema, Sclerocornea, Cryptorchidism, Iris hypopi... ORPHA:284160
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pterygium, Cataract OMIM:224410
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Aniridia, Hypoplastic female external genit... OMIM:612469
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrop... OMIM:617591
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... OMIM:612109
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the p... ORPHA:2969
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protei... OMIM:615688
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Ataxia-Telangiectasia
Conjunctival telangiectasia, Failure to thrive, Diabetes mellitus, Female hypogonadism, Elevated ... OMIM:208900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia OMIM:614813
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Hyperinsulinemia, Developmental cataract, Anemia, Vitreo... OMIM:620185
Sneddon Syndrome
Bicuspid aortic valve, Tremor, Atrophic scars, Mental deterioration, Lymphopenia OMIM:182410
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... ORPHA:845
Muckle-Wells Syndrome
Episcleritis, Skin rash, Optic atrophy, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous st... ORPHA:575
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Cryptorchidism, Ocular albinism, Choroideremia, Iris hypopigmentation ORPHA:2719
Gracile Bone Dysplasia
Asplenia, Hypocalcemia, Aniridia, Hypoplastic spleen, Failure to thrive OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Primary Ciliary Dyskinesia
Male infertility, Atrial situs ambiguous, Abnormal atrial arrangement, Female infertility, Asplen... ORPHA:244
Antiphospholipid Syndrome, Familial
Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Scleritis, Retinal vas... OMIM:107320
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus, Uveitis, Developmental cataract OMIM:617044
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonale, T lymphocytopenia, Lymph node hyp... OMIM:300755
Usher Syndrome
Abnormality of retinal pigmentation, Astigmatism, Decreased fertility, Cataract ORPHA:886
Chops Syndrome
Cataract, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, Aspiration pneumonia OMIM:616368
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Vici Syndrome
Atrial septal defect, Failure to thrive, Cataract, Left ventricular hypertrophy, Macular atrophy,... OMIM:242840
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Exaggerated startle response, Mitral valve prolapse, Hepatosplenom... ORPHA:309155
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Hypospadias, Sclerocornea, Optic ne... OMIM:206900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,... ORPHA:90362
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... OMIM:617780
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Spondyloocular Syndrome
Retinal detachment, Posterior subcapsular cataract, Cataract, Unilateral cryptorchidism OMIM:605822
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... ORPHA:2686
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy,... OMIM:309801
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Endocarditis, Lymphad... ORPHA:549
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Irritability, Joint contracture, Failure to thrive OMIM:616881
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Cor triatriatum, Inguinal hernia, Intermittent thrombocytopenia,... OMIM:612541
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A... ORPHA:85410
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression, Anemia OMIM:184850
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Nuclear cataract, Cataract OMIM:608885
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Cryptorchidism, Optic atrophy, Hypogonadism, Op... ORPHA:910
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Diabetes mellitus, Cataract, Inguinal hernia, Cryptorch... OMIM:616541
Microphthalmia, Syndromic 9
Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, ... OMIM:601186
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Iris co... ORPHA:2250
Fusariosis
Brain abscess, Fasciitis, Lung abscess, Abnormal retinal morphology, Keratitis, Abnormality of th... ORPHA:228119
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Cognitive impairment, Dystonia, Che... ORPHA:309246
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract, Diabetes mellitus OMIM:601701
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct... ORPHA:32960
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... OMIM:186580
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Cryptor... OMIM:300166
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Tubulointerstitial nephritis, Posterior uveitis, Papilledema, Anter... ORPHA:91500
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Irritability, Joint c... OMIM:617864
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Chronic sinusitis, Male infertility OMIM:619607
Meckel Syndrome
Cataract, True hermaphroditism, Abnormal chorioretinal morphology, Sclerocornea, Pancreatic fibro... ORPHA:564
Lesch-Nyhan Syndrome
Testicular atrophy, Podagra OMIM:300322
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Maculopapular exanthema, Supernumerary nip... OMIM:308300
Behçet Disease
Increased inflammatory response, Myositis, Cataract, Acne, Pericarditis, Orchitis, Retrobulbar op... ORPHA:117
Macrocephaly/Autism Syndrome
Short attention span, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele t... OMIM:605309
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Mental deterio... OMIM:617575
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Elevated circulating C-reactive protein concentration, Follicular hyperplasia,... OMIM:615934
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Congenital Fibrosis Of Extraocular Muscles
Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anisocoria, Abnormal pupil shape ORPHA:45358
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull... OMIM:216550
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy OMIM:609541
Whipple Disease
Myositis, Pericarditis, Myocarditis, Hypothyroidism, Uveitis, Arthritis, Erectile dysfunction, In... ORPHA:3452
Cinca Syndrome
Arthritis, Papilledema, Skin rash, Uveitis OMIM:607115
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... OMIM:619573
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Cystinosis, Nephropathic
Progressive neurologic deterioration, Hypophosphatemic rickets, Male hypogonadism, Male infertili... OMIM:219800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy ORPHA:320406
Cahmr Syndrome
Lamellar cataract OMIM:211770
Tetrasomy 9P
Absent gallbladder, Myositis, Pericarditis, Abnormal chorioretinal morphology, Cryptorchidism, Ol... ORPHA:3310
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormal odontoid tissue morpho... ORPHA:79255
Syndromic Diarrhea
Hepatomegaly, Inguinal hernia, Small for gestational age, Bicuspid aortic valve, Increased mean p... ORPHA:84064
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, Pannicul... ORPHA:508542
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Incontinentia Pigmenti
Retinal detachment, Cataract, Corneal opacity, Skin rash, Abnormal chorioretinal morphology, Supe... ORPHA:464
Tay-Sachs Disease
Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia OMIM:272800
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... OMIM:603457
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Sutural cataract OMIM:201470
Hallermann-Streiff Syndrome
Cryptorchidism, Hypothyroidism, Uveitis, Developmental cataract ORPHA:2108
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Cataract, Portal hyper... OMIM:620005
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Irrit... OMIM:608643
Progeroid Short Stature With Pigmented Nevi
Cataract, Premature ovarian insufficiency, Allergic rhinitis, Hypospadias, Diabetes mellitus, All... OMIM:176690
Dyskeratosis Congenita, X-Linked
Cataract, Hypospadias, Phimosis, Cryptorchidism, Optic atrophy, Conjunctivitis, Pterygium, Blepha... OMIM:305000
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... ORPHA:443811
Cushing Disease
Diabetes mellitus, Impaired glucose tolerance, Dorsocervical fat pad, Optic nerve compression, Le... ORPHA:96253
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... OMIM:614700
Meige Disease
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center ORPHA:90186
Neurotrophic Keratopathy
Anterior uveitis, Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurr... ORPHA:137596
Leprosy
Testicular mass, Uveitis, Abnormality of the adrenal glands, Iritis, Corneal perforation, Corneal... ORPHA:548
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Khan-Khan-Katsanis Syndrome
Lymphopenia, Peters anomaly, Corneal scarring, Buphthalmos, Pigmentary retinopathy, Neutropenia, ... OMIM:618460
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Patent ductus arteriosus, Abnormal vitreous humor m... ORPHA:1571
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Diabetes mellitus ORPHA:3198
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Cinca Syndrome
Retrobulbar optic neuritis, Pseudopapilledema, Inflammatory abnormality of the eye, Uveitis ORPHA:1451
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Conjunctival hyp... ORPHA:99826
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto... OMIM:227650
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Optic atrophy, Elbow flexion ... OMIM:617301
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Abnormal retin... ORPHA:727
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... OMIM:605808
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization OMIM:617388
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Retinal hemorrhage, Uveitis, Conjunctivitis, Chronic otitis m... OMIM:608710
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Inflammatory abnormality of the eye ORPHA:36412
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Failure to thrive, Hy... OMIM:615574
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Contractures of the large joints, Cognitive impairme... OMIM:617527
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Nuclear cataract ORPHA:1010
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... ORPHA:1572
Relapsing Polychondritis
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... ORPHA:728
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Depression, Leuk... ORPHA:289390
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract ORPHA:50814
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Corneal opacity, Eczema, Keratitis, Cryptorchidism, Corneal erosion, Cheilitis, Uve... ORPHA:2273
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Contractures of the large joints, Dystonia, Failure ... ORPHA:521426
Hyperekplexia 2
Exaggerated startle response, Astigmatism, Hiatus hernia OMIM:614619
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Flexion contracture OMIM:618201
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... ORPHA:790
Blau Syndrome
Pericarditis, Cataract, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Irido... ORPHA:90340
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Cataract, Sutural cataract, Nuclear pulverulent cataract OMIM:612474
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Rift Valley Fever
Skin rash, Retinitis, Hepatitis, Uveitis, Macular edema, Retinal hemorrhage, Retinal vasculitis, ... ORPHA:319251
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc... ORPHA:31204
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Exaggerated startle response, Testicular dysgenesis OMIM:608800
Lymphoproliferative Syndrome 2
Recurrent pneumonia, EBV encephalitis, Uveitis OMIM:615122
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Corn... ORPHA:810
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatoblastoma, Neoplasm of the thymus, Increased body weight, Pancreatic adenocarcinoma, Leuk... ORPHA:99889
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Hyperekplexia 3
Exaggerated startle response, Hiatus hernia OMIM:614618
Lyme Disease
Arthritis, Infectious encephalitis, Uveitis ORPHA:91546
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Uterine prolapse, Bicuspid aortic valve, Ventric... ORPHA:438213
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Bronchiectasis, Uveitis OMIM:612387
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... OMIM:613471
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Cogan Syndrome
Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye ORPHA:1467
Stickler Syndrome
Retinal detachment, Cataract, Ectopia lentis, Osteoarthritis, Abnormal vitreous humor morphology,... ORPHA:828
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, Abnormality of the pancreas, Cognitive impairment, Lymphopenia, Anemia ORPHA:935
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cystic Fibrosis
Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, ... OMIM:219700
Sarcoidosis
Cataract, Maculopapular exanthema, Hyperthyroidism, Diabetes insipidus, Erythema nodosum, Abnorma... ORPHA:797
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Charge Syndrome
Omphalocele, Cataract, Hypogonadotropic hypogonadism, Overriding aorta, Ventricular septal defect... OMIM:214800
Juvenile Xanthogranuloma
Uveitis, Blepharitis, Iritis, Asymmetry of iris pigmentation ORPHA:158000
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Synovitis, Hypogonadism OMIM:163950
Leptospirosis
Papilledema, Pericarditis, Skin rash, Hepatitis, Uveitis, Retinal hemorrhage, Chorioretinitis, Op... ORPHA:509
Localized Scleroderma
Fasciitis, Uveitis, Arthritis, Esophagitis, Hashimoto thyroiditis ORPHA:90289
Oculodentodigital Dysplasia
Microcornea, Cataract, Uveitis OMIM:164200
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Arthritis, In... OMIM:181000
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Optic atrophy, Dela... ORPHA:193
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, Hi... ORPHA:85408
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Diabetes ins... OMIM:157170
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Co... ORPHA:95159
Primary Sclerosing Cholangitis
Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Neoplasm of the gallbladder, Type I diabetes... ORPHA:171
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Keratoconjunctivitis, Scleritis, Seborrhoeic blepharitis, Co... ORPHA:79277
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Cryptorchidism, Hydrocele testis, Chorde... OMIM:619522
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... ORPHA:93126

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Liver - MPATH pathological entity term steatosis Vps13bem1(IMPC)Tcp HOM Early adult
Epididymis - MPATH pathological process term aspermia Vps13bem1(IMPC)Tcp HOM Early adult
Eye - MPATH pathological entity term cataract; lens extrusion Vps13bem1(IMPC)Tcp HOM Early adult
Eye - MPATH pathological process term vacuolation Vps13bem1(IMPC)Tcp HOM Early adult
Eye - MPATH pathological process term dysplasia Vps13bem1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Vps13bem1(IMPC)Tcp HOM Early adult
Liver - MPATH pathological process term vacuolation Vps13bem1(IMPC)Tcp HOM Early adult
Liver - MPATH pathological process term hydropic degeneration Vps13bem1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term aspermia Vps13bem1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological entity term germ cell defect Vps13bem1(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Vps13b.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities. Autism research : official journal of the International Society for Autism Research (April 2022) Vps13bem1(IMPC)Tcp PMC9325472

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Vps13bem1(IMPC)Tcp Exon Deletion Mice, Tissue

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