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Gene: Vps13b MGI:1916380

Gene Summary

Name:

vacuolar protein sorting 13B

Synonyms:

C330002D13Rik, 1810042B05Rik, 2310042E16Rik, Coh1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
increased startle reflex	Vps13b^em1(IMPC)Tcp	HOM	Early adult	2.84×10^-05
abnormal eye morphology	Vps13b^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased leukocyte cell number	Vps13b^em1(IMPC)Tcp	HOM	Early adult	1.63×10^-05
cataract	Vps13b^em1(IMPC)Tcp	HOM	Early adult	2.16×10^-07
abnormal skin morphology	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased exploration in new environment	Vps13b^em1(IMPC)Tcp	HOM	Early adult	9.55×10^-08
impaired glucose tolerance	Vps13b^em1(IMPC)Tcp	HOM	Early adult	4.10×10^-05
small spleen	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal lens morphology	Vps13b^em1(IMPC)Tcp	HOM	Early adult	1.51×10^-07
decreased lean body mass	Vps13b^em1(IMPC)Tcp	HOM	Early adult	2.47×10^-06
decreased lymphocyte cell number	Vps13b^em1(IMPC)Tcp	HOM	Early adult	8.81×10^-05
increased grip strength	Vps13b^em1(IMPC)Tcp	HOM	Middle aged adult	7.47×10^-05
decreased circulating alkaline phosphatase level	Vps13b^em1(IMPC)Tcp	HOM	Early adult	3.21×10^-10
small heart	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased body length	Vps13b^em1(IMPC)Tcp	HOM	Early adult	3.25×10^-08
increased total body fat amount	Vps13b^em1(IMPC)Tcp	HOM	Early adult	7.78×10^-07
increased mean corpuscular volume	Vps13b^em1(IMPC)Tcp	HOM	Early adult	8.99×10^-06
enlarged lymph nodes	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal liver morphology	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00
male infertility	Vps13b^em1(IMPC)Tcp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Pathology and Tissue Collection

Images

5 Images

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Eye Morphology

Images Ophthalmoscopy

4 Images

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Eye Morphology

Images Slit Lamp

88 Images

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Gross Pathology and Tissue Collection

Images

10 Images

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Histopathology

Images

16 Images

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Eye Morphology

Images Slit Lamp

26 Images

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Eye Morphology

Images Ophthalmoscopy

34 Images

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X-ray

XRay Images Skull Lateral Orientation

4 Images

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X-ray

XRay Images Whole Body 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

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

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X-ray

XRay Images Skull 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.

Human diseases associated with Vps13b (2 diseases)
Human diseases predicted to be associated with Vps13b (640 diseases)

The table below shows human diseases associated to Vps13b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cohen Syndrome		Leukopenia, Mitral valve prolapse, Childhood-onset truncal obesity, Neutropenia, Small for gestat...	OMIM:216550
Cohen Syndrome		Optic atrophy, Abnormality of retinal pigmentation, Cryptorchidism, Chorioretinal dystrophy, Dela...	ORPHA:193

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

Disease	Matching phenotypes	Source
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent...	OMIM:301101
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
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
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Infertility, Rod-cone dystrophy, Cataract	OMIM:300719
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta...	OMIM:616468
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Chorioretinal coloboma	OMIM:274205
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m...	OMIM:620438
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Autosomal Recessive Spastic Paraplegia Type 46	Cataract, Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm m...	ORPHA:320391
Ciliary Dyskinesia, Primary, 50	Chronic sinusitis, Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein ...	OMIM:620356
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Acne, Male infertility	ORPHA:3000
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Spastic Paraparesis And Deafness	Hypogonadism, Cataract	OMIM:312910
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Spastic Paraparesis-Deafness Syndrome	Hypogonadism, Cataract	ORPHA:2815
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 17	Male infertility	OMIM:617214
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia	OMIM:615703
Leukoencephalopathy With Vanishing White Matter 2	Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Cataract	OMIM:620312
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Morm Syndrome	Micropenis, Cataract, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel...	ORPHA:39044
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
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
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir...	ORPHA:179
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d...	ORPHA:363741
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Deleted in azoospermia	Azoospermia	OMIM:400003
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Hypogonadism-Cataract Syndrome	Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve...	OMIM:240950
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Knobloch Syndrome 1	Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary atrophy,...	OMIM:267750
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume...	OMIM:620044
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Young Syndrome	Azoospermia, Bronchiectasis	OMIM:279000
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V...	OMIM:143200
Galactokinase Deficiency	Cataract, Nuclear cataract, Hyperinsulinemia, Premature ovarian insufficiency, Hypergonadotropic ...	ORPHA:79237
Retinitis Pigmentosa 56	Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ...	OMIM:613581
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Failure to thrive, Persistence of hem...	OMIM:612561
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent sinusitis, Short sperm flagella, Bronchiectasis, Male infertility, Coiled sperm flagella	OMIM:620197
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Congenital stationary night blindness, Increased serum t...	ORPHA:8
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality of the liver, Mac...	ORPHA:2169
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ...	OMIM:300200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Cataract, Microcornea	ORPHA:2528
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ...	OMIM:101000
Cofs Syndrome	Hypogonadism, Optic atrophy, Abnormality of retinal pigmentation, Cataract	ORPHA:1466
Senior-Loken Syndrome	Premature ovarian insufficiency, Abnormality of retinal pigmentation, Retinal dystrophy, Cataract	ORPHA:3156
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv...	OMIM:617052
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism, Chorioretinal coloboma	ORPHA:2489
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Decrease...	ORPHA:2410
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Premature ovarian insufficiency, Cataract	ORPHA:2278
Vitreoretinochoroidopathy	Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Hypogonadism, Cataract	OMIM:254000
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Rod-cone dystrophy, Hypergonadotropic hypogonadism	OMIM:614307
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca...	ORPHA:637
Hemochromatosis, Type 4	Cataract, Impotence, Cardiomyopathy, Increased circulating ferritin concentration, Glucose intole...	OMIM:606069
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism,...	ORPHA:3085
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Extramedullary hematopoiesis, Persistence of hem...	ORPHA:231222
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Pyelonephritis, Cryptorchidism, Oligozoospermia	OMIM:314300
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract, Retinal dystrophy	OMIM:610156
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Nuclear cataract, Posterior subcapsular cat...	OMIM:611131
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Myotonic Dystrophy 2	Posterior subcapsular cataract, Hypogonadism, Type II diabetes mellitus, Elevated circulating fol...	OMIM:602668
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract	ORPHA:1875
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Attenuatio...	OMIM:617547
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cataract, Decreased response to growth hormone stimulation test, Decreased testicular size, Azoos...	ORPHA:280679
Knobloch Syndrome 2	Vitreoretinopathy, Anterior cortical cataract, Vitreous floaters, Retinal detachment, Patent duct...	OMIM:618458
Retinopathy Of Prematurity	Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme...	ORPHA:90050
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Dilated cardiomyopathy, Reduced hemoglobin A, ...	ORPHA:231226
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Posterior subcapsular cataract, Cataract, Cerulean cataract, Anterior cortical cat...	ORPHA:67036
Hemochromatosis, Type 2A	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Arthritis, Infertility	OMIM:602390
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Posterior subcapsular cataract, Reduced sperm motility, Rod-cone dystrophy, Macular atrophy, Opti...	OMIM:615434
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Majeed Syndrome	Failure to thrive, Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadeq...	OMIM:609628
Ciliary Dyskinesia, Primary, 9	Pneumonia, Male infertility, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chron...	OMIM:612444
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Martsolf Syndrome 2	Hypogonadotropic hypogonadism, Developmental cataract, Cataract	OMIM:619420
Classic Galactosemia	Cataract, Hepatic failure, Elevated circulating hepatic transaminase concentration, Mental deteri...	ORPHA:79239
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:616108
Leber Congenital Amaurosis 2	Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy...	OMIM:251270
Bardet-Biedl Syndrome 9	Irregular menstruation, Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal dege...	OMIM:615986
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cataract, Male hypogonadism, Pigmentary retinopathy, Cholelithiasis, Chronic ...	OMIM:240300
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ...	OMIM:277410
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen...	OMIM:614292
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con...	OMIM:619313
Lead Poisoning	Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve...	ORPHA:330015
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Ciliary Dyskinesia, Primary, 45	Chronic rhinitis, Bronchiectasis, Male infertility, Absent inner and outer dynein arms	OMIM:618801
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Ciliary Dyskinesia, Primary, 34	Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Absent central microtubular pair morpholog...	OMIM:617091
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic...	OMIM:612562
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Elliptoc...	OMIM:618278
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Astigmatism, Ventricular septal defect...	ORPHA:261250
Gapo Syndrome	Optic atrophy, Keratoconus, Hypogonadism, Dysmenorrhea, Amenorrhea, Oligozoospermia	ORPHA:2067
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Ciliary Dyskinesia, Primary, 40	Azoospermia, Chronic sinusitis, Chronic rhinitis, Infertility, Patent ductus arteriosus, Absent o...	OMIM:618300
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract, Optic nerve hypoplasia	OMIM:222765
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
4H Leukodystrophy	Optic atrophy, Cataract, Decreased response to growth hormone stimulation test, Abnormality of th...	ORPHA:289494
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Vaginal hernia, Cataract	ORPHA:3173
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Tractional retinal detachment, Epir...	ORPHA:891
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Cataract, Hypothyroidism, Testicular atrophy, Diabetes ins...	OMIM:222300
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Hemochromatosis, Type 1	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m...	OMIM:235200
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Leber Congenital Amaurosis 8	Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Ciliary Dyskinesia, Primary, 36, X-Linked	Bronchiectasis, Recurrent sinusitis, Chronic otitis media, Male infertility	OMIM:300991
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular v...	OMIM:611590
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias	ORPHA:1381
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cryptorchidism, Cataract	OMIM:613730
Ciliary Dyskinesia, Primary, 18	Male infertility, Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Absent inner dynei...	OMIM:614874
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Failure to thrive, Hypoglycemia, Cardiomyopathy, Decreased liver...	ORPHA:67048
Myotonic Dystrophy 1	Testicular atrophy, Cataract, Cholelithiasis, Hypogonadism	OMIM:160900
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Otitis media, Ch...	OMIM:613807
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Elevated hepatic iron concentrat...	OMIM:206100
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Cryptorchidism, Displacement of the urethral meatus, Am...	ORPHA:893
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas...	ORPHA:432
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu...	ORPHA:231736
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy	OMIM:614284
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r...	OMIM:300578
Congenital Rubella Syndrome	Cataract, Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Splenomegaly, Ventricular sep...	ORPHA:290
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Elevated circulating luteinizing hormone level, Decreased response to growth hormone st...	OMIM:300845
Eales Disease	Macular edema, Anterior uveitis, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascula...	ORPHA:40923
Mevalonic Aciduria	Cataract, Nuclear cataract, Morbilliform rash, Attenuation of retinal blood vessels, Skin rash, O...	OMIM:610377
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Pigmentary retinopathy, Cataract, Cholelithiasis, Hypogonadism, Type II dia...	ORPHA:79095
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione...	OMIM:618660
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Annular pancreas, Hypogonadism, Cryptorchidism, Zonular cataract	OMIM:268400
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Castleman Disease	Restrictive cardiomyopathy, Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lym...	ORPHA:160
Galactosemia I	Increased level of galactitol in red blood cells, Cataract, Failure to thrive, Decreased liver fu...	OMIM:230400
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume, Small for gestational age	OMIM:616943
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ...	ORPHA:276
Craniolenticulosutural Dysplasia	Optic atrophy, Posterior Y-sutural cataract, Punctate cataract, Cryptorchidism	OMIM:607812
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ...	OMIM:602450
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Persistent Hyperplastic Primary Vitreous	Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme...	ORPHA:91495
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Oligozoospermia, Abnormal testis morphology, Tubulointerstitial nephritis, Primary ...	ORPHA:85450
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Failure to thrive, Lymphopenia, Lymph node hypoplasia, Splenomegaly, Autoimmune hem...	OMIM:613179
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior ...	ORPHA:279914
Bloom Syndrome	Pneumonia, Azoospermia, Retinopathy, Otitis media, Skin rash, Oligozoospermia, Premature ovarian ...	ORPHA:125
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Failur...	ORPHA:100
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
8P11.2 Deletion Syndrome	Microcornea, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospermia, Cryptorch...	ORPHA:251066
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Knee osteoarthritis, Nuclear cataract, Osteoarthritis of the elbow, Pericarditis	ORPHA:2848
Chondrodysplasia Punctata 1, X-Linked Recessive	Hypogonadism, Cataract	OMIM:302950
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
3-Methylglutaconic Aciduria, Type Viib	Cataract, Recurrent pneumonia, Zonular cataract	OMIM:616271
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Cataract, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infanc...	OMIM:618805
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Cataract, Decreased testicular size, External genital hypoplasia, Cryptorchidism, Corn...	ORPHA:1867
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Cataract 49	Posterior cortical cataract	OMIM:619593
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Cataract, Hypogonadism, Hypothyroidism, Diabetes mellitus, Temporal optic disc pal...	ORPHA:98673
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Sclerocornea, Iris coloboma, Abnor...	ORPHA:139471
Isolated Atp Synthase Deficiency	Optic atrophy, Cataract, Hypogonadism, Hypothyroidism, Rod-cone dystrophy	ORPHA:254913
Complete Androgen Insensitivity Syndrome	Acne, Elevated circulating luteinizing hormone level, Abnormal morphology of female internal geni...	ORPHA:99429
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Cockayne Syndrome Type 2	Male hypogonadism, Cryptorchidism, Developmental cataract, Conjunctivitis, Uveitis	ORPHA:90322
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Corneal scarring, Cryptorchidism, Developmental cataract	OMIM:309000
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Absent inner and outer dynein arms, Rhinitis, Bronch...	OMIM:614935
Walker-Warburg Syndrome	Optic atrophy, Cataract, Retinal dysplasia, Microcornea, Abnormal optic nerve morphology, Cryptor...	ORPHA:899
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Mirage Syndrome	Hypoglycemia, Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thrombocytopenia, Ane...	OMIM:617053
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Micropenis, Retinal dystrophy...	OMIM:610125
45,X/46,Xy Mixed Gonadal Dysgenesis	Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnor...	ORPHA:1772
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ...	ORPHA:97214
Coccidioidomycosis	Pneumonia, Folliculitis, Abnormality of the male genitalia, Morbilliform rash, Osteomyelitis, Ski...	ORPHA:228123
Ciliary Dyskinesia, Primary, 1	Pneumonia, Abnormal cornea morphology, Male infertility, Chronic sinusitis, Chronic rhinitis, Chr...	OMIM:244400
Phacoanaphylactic Uveitis	Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal...	ORPHA:209959
Warburg Micro Syndrome 3	Small scrotum, Optic atrophy, Cataract, Microcornea, Decreased testicular size, Developmental cat...	OMIM:614222
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal...	OMIM:212550
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Micro Syndrome	Optic atrophy, Cataract, Microcornea, Retinal coloboma, Cryptorchidism, Abnormality of retinal pi...	ORPHA:2510
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Werner Syndrome	Hypogonadism, Cataract, Diabetes mellitus, Retinal degeneration	OMIM:277700
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly	OMIM:620210
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Norrie Disease	Optic atrophy, Cataract, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil ...	ORPHA:649
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Atrial septal defect, Patent foramen ovale	ORPHA:89844
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Pseudo-Torch Syndrome 1	Cataract, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased l...	OMIM:251290
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Cellulitis, Lymphadenitis, Lymphopenia, Hep...	OMIM:618986
Microphthalmia/Coloboma 12	Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Recurrent otitis media, Male infertility	OMIM:618948
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome...	OMIM:617591
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Optic atrophy, Pigmentary retinopathy, Cataract	OMIM:610651
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape, Clitoral hypertrophy, Optic atrophy, Cataract, Ambiguous genitalia	ORPHA:543470
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ...	ORPHA:277
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo...	OMIM:177650
Warburg Micro Syndrome 2	Small scrotum, Optic atrophy, Cataract, Microcornea, Cryptorchidism, Hypoplastic labia majora, De...	OMIM:614225
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Cockayne Syndrome Type 1	Optic atrophy, Male hypogonadism, Pigmentary retinopathy, Cataract, Cryptorchidism, Conjunctiviti...	ORPHA:90321
Kapur-Toriello Syndrome	Cataract, Retinal coloboma, Cryptorchidism, Hypoplastic labia majora, Micropenis, Iris coloboma, ...	OMIM:244300
Bardet-Biedl Syndrome 1	Cataract, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Hyperautofluorescent...	OMIM:209900
Behcet Syndrome	Hypopyon, Genital ulcers, Chorioretinitis, Iridocyclitis, Arthritis, Erythema nodosum, Epididymit...	OMIM:109650
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Transketolase Deficiency	Cataract, Type I diabetes mellitus, Secondary amenorrhea, Seborrheic dermatitis, Conjunctivitis, ...	ORPHA:488618
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Hereditary Leiomyomatosis And Renal Cell Cancer	Vaginal neoplasm, Cataract, Uterine leiomyosarcoma, Uterine leiomyoma	ORPHA:523
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Norrie Disease	Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos...	OMIM:310600
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia	OMIM:614813
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen...	ORPHA:465508
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Aniridia 2	Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Cataract, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amen...	OMIM:157640
Proteus-Like Syndrome	Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Po...	ORPHA:2969
Aniridia-Absent Patella Syndrome	Cataract, Aniridia, Cryptorchidism	ORPHA:1069
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Sneddon Syndrome	Mental deterioration, Lymphopenia, Atrophic scars, Tremor, Bicuspid aortic valve	OMIM:182410
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Cowden Syndrome 6	Varicocele, Cataract, Thyroid adenoma, Goiter, Angioid streaks of the fundus, Ovarian cyst, Hypot...	OMIM:615109
Ataxia-Telangiectasia	Failure to thrive, Lymphopenia, Glucose intolerance, Decreased proportion of CD4-positive helper ...	OMIM:208900
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ...	ORPHA:263479
Cowden Syndrome 5	Cataract, Thyroid adenoma, Goiter, Angioid streaks of the fundus, Ovarian cyst, Hypothyroidism, H...	OMIM:615108
Agammaglobulinemia, X-Linked	Cor pulmonale, Lymph node hypoplasia, Prostatitis, Neutropenia, B lymphocytopenia, Anemia, Conjun...	OMIM:300755
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Gracile Bone Dysplasia	Failure to thrive, Aniridia, Hypocalcemia, Asplenia, Hypoplastic spleen	OMIM:602361
Muckle-Wells Syndrome	Optic atrophy, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Delayed puberty, Arthritis...	ORPHA:575
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Usher Syndrome	Astigmatism, Cataract, Decreased fertility, Abnormality of retinal pigmentation	ORPHA:886
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Intestinal lymphangiectasia, Hypomagnesemia, Lymphopenia, H...	ORPHA:90362
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Fa...	ORPHA:331206
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Primary Ciliary Dyskinesia	Abnormal sperm motility, Bronchiectasis, Female infertility, Recurrent otitis media, Chronic sinu...	ORPHA:244
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Cataract, Microcornea, Cryptorchidism, Vaginal atresia, Septo-optic dysplasia, Iri...	ORPHA:3301
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep...	ORPHA:247598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy...	OMIM:614643
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Linear Skin Defects With Multiple Congenital Anomalies 1	Iris coloboma, Clitoral hypertrophy, Pigmentary retinopathy, Cataract, Peters anomaly, Ovotestis,...	OMIM:309801
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Developmental cataract, Uveitis	OMIM:617044
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Cyclic Neutropenia	Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Per...	ORPHA:2686
Sandhoff Disease	Progressive psychomotor deterioration, Hepatosplenomegaly, Cardiomegaly, Exaggerated startle resp...	OMIM:268800
Antiphospholipid Syndrome, Familial	Keratitis, Central retinal artery occlusion, Retinal vasculitis, Scleritis, Retinal detachment, I...	OMIM:107320
Stiff-Person Syndrome	Depression, Opisthotonus, Exaggerated startle response, Anemia, Diabetes mellitus	OMIM:184850
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Hyponatremia, Panc...	ORPHA:549
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Cataract, Peters anomaly, Megalocornea, Cryptorchidism, Retinal atrophy, Retinal d...	OMIM:236670
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Cataract, Dilated cardiomyopathy, Abnormal circulating lipid concentration, L...	OMIM:616541
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Dilated cardiomyopathy, Elevated circulati...	OMIM:615688
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract	OMIM:608885
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Recurrent otitis media, Chronic sinusitis, Male infertility	OMIM:619607
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu...	OMIM:106210
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Sp...	OMIM:612541
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Cataract, Lymphopenia, Leukopenia, Noncompaction cardiomyopathy, Ret...	ORPHA:508542
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Rheumatoid arthritis, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Arthritis,...	ORPHA:85410
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract, Diabetes mellitus	OMIM:601701
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Congenital diaphragmatic her...	OMIM:601186
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an...	ORPHA:79098
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract	OMIM:302350
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Elevated circulating C-reacti...	OMIM:615934
Congenital Fibrosis Of Extraocular Muscles	Cataract, Abnormal pupil shape, Hypogonadotropic hypogonadism, Anisocoria, Optic nerve hypoplasia	ORPHA:45358
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypoglycemia, Hyperglycemia, Partial atrioventricular canal defect, Hyp...	OMIM:620423
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Whipple Disease	Uveitis, Infectious encephalitis, Myositis, Hypothyroidism, Arthritis, Myocarditis, Erectile dysf...	ORPHA:3452
Blau Syndrome	Cataract, Uveitis, Nongranulomatous uveitis, Band keratopathy, Eczematoid dermatitis, Cystoid mac...	OMIM:186580
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Tremor, Patent foramen ovale, Atrial septal defect, Exaggerated startle response, Limb ...	OMIM:620327
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Cryptorchidism, Hypogonadotropic hypogonadism, Sclerocornea, Anter...	OMIM:206900
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Hepatic steatosis, ...	OMIM:619573
Incontinentia Pigmenti	Optic atrophy, Cataract, Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Hypo...	OMIM:308300
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Cataract, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Transpositi...	OMIM:253800
Tetrasomy 9P	Glue ear, Cryptorchidism, Absent gallbladder, Myositis, Oligozoospermia, Arthritis, Micropenis, I...	ORPHA:3310
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Type II diabet...	OMIM:269200
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Vitreous hemorr...	OMIM:620185
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Ty...	ORPHA:91
Reni Syndrome	Hypoalbuminemia, Mental deterioration, Hypoglycemia, Hypogonadism, Lymphopenia, Hypertriglyceridemia	OMIM:617575
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Macrocephaly/Autism Syndrome	Lymphopenia, Obesity, Large for gestational age, Short attention span, Splenomegaly, Hepatomegaly	OMIM:605309
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg...	ORPHA:83461
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Vici Syndrome	Cataract, Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Ocular albinism, Lymphopenia...	OMIM:242840
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Cataract, Allergic conjunctivitis, Chordee, Delayed puberty, Premature ovarian...	OMIM:176690
Avian Influenza	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Lymphopenia,...	ORPHA:454836
Syndromic Diarrhea	Hepatic fibrosis, Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, Abnormality of the...	ORPHA:84064
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Hepatitis, Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, ...	ORPHA:169160
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Cataract, Ventricular hypertrophy, Umbilical hernia, Lymphopenia, Pancytopenia, Leukopenia, Obesi...	OMIM:620654
Cinca Syndrome	Papilledema, Skin rash, Arthritis, Uveitis	OMIM:607115
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Chorioretinal scar, Choroidal neovascularization, Macular edema, Nongranulomat...	ORPHA:91500
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral valve prolapse, Exaggerated startle response	ORPHA:309155
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Cataract, Severe B lymphocytopenia, Hepatic fibrosis, Elevated circulating hepa...	OMIM:620005
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Congenital Syphilis	Pneumonia, Optic atrophy, Cataract, Keratitis, Chorioretinitis, Synovitis, Pancreatitis, Myocardi...	ORPHA:499009
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m...	ORPHA:64
Incontinentia Pigmenti	Cataract, Keratitis, Supernumerary nipple, Skin rash, Infectious encephalitis, Retinal vascular p...	ORPHA:464
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Ventricular septal d...	OMIM:243150
Fusariosis	Cellulitis, Keratitis, Granuloma, Brain abscess, Fasciitis, Abnormality of the spleen, Lymphopeni...	ORPHA:228119
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Familial Cold Autoinflammatory Syndrome 1	Conjunctivitis, Skin rash, Arthritis, Uveitis	OMIM:120100
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Microphthalmia, Syndromic 2	Iris coloboma, Microcornea, Septate vagina, Adrenal insufficiency, Cryptorchidism, Hypothyroidism...	OMIM:300166
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis, Conjunctiv...	ORPHA:32960
Stiff Person Spectrum Disorder	Diabetes mellitus, Emotional lability, Exaggerated startle response	ORPHA:3198
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Hypogonadism, External genital hypoplasia, Cryptorchidism, Hypoplasia of penis, Iris co...	ORPHA:2250
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response	OMIM:617028
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Limb tremor, T...	OMIM:608643
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Type I d...	OMIM:614700
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level...	OMIM:301110
Meige Disease	Cellulitis, Atypical scarring of skin, Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Neurotrophic Keratopathy	Corneal perforation, Corneal scarring, Astigmatism, Recurrent corneal erosions, Corneal stromal e...	ORPHA:137596
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Jaundice, Elevated circulating creatinine con...	ORPHA:99826
Knobloch Syndrome	Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morpho...	ORPHA:1571
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Cataract, Microcornea, Ectopia pupillae, Sclerocornea, Hypospadias	OMIM:615877
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Failure to thrive, Short attention span, Irritability, Joint contracture, Exaggerated startle res...	OMIM:617864
Meckel Syndrome	Optic atrophy, Microcornea, Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, True hermap...	ORPHA:564
Leukodystrophy, Hypomyelinating, 13	Irritability, Failure to thrive, Joint contracture, Exaggerated startle response	OMIM:616881
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ...	OMIM:617321
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Depression, Memory impairment, Laryngeal dystonia, Short att...	ORPHA:845
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Dystonia, Cognitive impairment, Exaggerated startle response	ORPHA:309246
Hyperekplexia 2	Hiatus hernia, Astigmatism, Exaggerated startle response	OMIM:614619
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadis...	OMIM:227650
Cinca Syndrome	Inflammatory abnormality of the eye, Retrobulbar optic neuritis, Pseudopapilledema, Uveitis	ORPHA:1451
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Lymphopeni...	ORPHA:1572
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Reduced red cell adeno...	OMIM:102700
Immunodeficiency 31C	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Weight loss, Lymphadenopathy, Impaired ly...	OMIM:614162
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Abnormal retinal ...	ORPHA:727
Autoinflammation With Arthritis And Dyskeratosis	Corneal neovascularization, Punctate keratitis, Keratoconjunctivitis sicca, Thyroiditis, Uveitis	OMIM:617388
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, L...	ORPHA:247353
Birdshot Chorioretinopathy	Posterior uveitis, Vitreous floaters, Retinal pigment epithelial atrophy, Abnormal chorioretinal ...	OMIM:605808
Cystinosis, Nephropathic	Progressive neurologic deterioration, Male hypogonadism, Decreased circulating carnitine concentr...	OMIM:219800
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Arthritis, Inflammatory abnormality of the eye, Conjunctivitis, Uveitis	ORPHA:36412
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Patent foramen ovale, Ventricular septal defect, Decreased circulating...	OMIM:615474
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre...	OMIM:300539
Granulomatosis With Polyangiitis	Keratitis, Episcleritis, Sinusitis, Retinal hemorrhage, Conjunctivitis, Chronic otitis media, Uve...	OMIM:608710
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia	OMIM:620443
Gm1 Gangliosidosis Type 1	Abnormal odontoid tissue morphology, Hepatosplenomegaly, Cardiomyopathy, Exaggerated startle resp...	ORPHA:79255
Lesch-Nyhan Syndrome	Testicular atrophy, Podagra	OMIM:300322
Steinert Myotonic Dystrophy	Male hypogonadism, Posterior subcapsular cataract, Cholelithiasis, Decreased response to growth h...	ORPHA:273
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Bosma Arhinia Microphthalmia Syndrome	Cataract, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary amenor...	OMIM:603457
Relapsing Polychondritis	Cataract, Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis,...	ORPHA:728
Cushing Disease	Abnormal libido, Depression, Memory impairment, Lymphopenia, Dorsocervical fat pad, Leukocytosis,...	ORPHA:96253
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Failure to thrive, Exaggerated startle response	OMIM:618201
Primary Sjögren Syndrome	Normocytic anemia, Corneal perforation, Biliary cirrhosis, Depression, Chronic active hepatitis, ...	ORPHA:289390
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre...	OMIM:600802
Retinoblastoma	Hypopyon, Pineoblastoma, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigment...	ORPHA:790
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Keratitis, Microcytic anemia, Lymphopenia, Abnorm...	ORPHA:906
Blau Syndrome	Posterior uveitis, Cataract, Keratitis, Abnormal optic nerve morphology, Retinopathy, Abnormal ch...	ORPHA:90340
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Patent ductus arteriosus, Nuclear pulverulent cataract	OMIM:612474
Hallermann-Streiff Syndrome	Hypothyroidism, Cryptorchidism, Developmental cataract, Uveitis	ORPHA:2108
Tay-Sachs Disease	Dementia, Psychomotor deterioration, Exaggerated startle response	OMIM:272800
Acromelic Frontonasal Dysostosis	Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response	OMIM:620114
Apparent Mineralocorticoid Excess	Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level	OMIM:218030
Rift Valley Fever	Macular edema, Hepatitis, Skin rash, Retinal vasculitis, Retinitis, Infectious encephalitis, Reti...	ORPHA:319251
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Chorioretinitis, Infectiou...	ORPHA:31204
Asparagine Synthetase Deficiency	Hypoasparaginemia, Failure to thrive, Tremor, Irritability, Exaggerated startle response	OMIM:615574
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Lymphopenia, Emotional lability, Increased body weight, Weight lo...	ORPHA:99889
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia...	ORPHA:391487
Cohen Syndrome	Leukopenia, Mitral valve prolapse, Childhood-onset truncal obesity, Neutropenia, Small for gestat...	OMIM:216550
Neuroocular Syndrome 1	Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remnants of the hyal...	OMIM:619539
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Short attention span, Exaggerated startle response	ORPHA:438216
Lymphoproliferative Syndrome 2	EBV encephalitis, Recurrent pneumonia, Uveitis	OMIM:615122
Apparent Mineralocorticoid Excess	Hypokalemia, Left ventricular hypertrophy, Failure to thrive, Decreased circulating renin level	ORPHA:320
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Failure to thrive, Cognitive impairment, Exaggerated startle re...	OMIM:617527
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Flexion contracture, Exaggerated startle response	OMIM:609541
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope...	OMIM:613471
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Oligoarthritis, Ir...	ORPHA:85436
Gm2-Gangliosidosis, Ab Variant	Dementia, Dystonia, Exaggerated startle response	OMIM:272750
Shigellosis	Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Corneal ulcer...	ORPHA:810
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Hip contracture, Exaggerated startle response, Flexion contracture, Ar...	OMIM:617301
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Hyperalaninemia, Hypoglycemia, Exaggerated startle response	OMIM:620451
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai...	ORPHA:35078
Hyperekplexia 3	Hiatus hernia, Exaggerated startle response	OMIM:614618
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Multiple joint contractures, Exaggerated startle response	ORPHA:320406
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Inguinal hernia, Cognitive impairment, Anemia, Abnormality of the pancreas	ORPHA:935
Leprosy	Corneal perforation, Testicular mass, Abnormality of the adrenal glands, Corneal ulceration, Irit...	ORPHA:548
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
Hyperekplexia 1	Umbilical hernia, Inguinal hernia, Exaggerated startle response	OMIM:149400
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Eczematoid dermatitis, Episcleritis, Cryptorchidism, Astigmatism, Scleritis, Corneal o...	ORPHA:2273
Stickler Syndrome	Cataract, Ectopia lentis, Astigmatism, Abnormal vitreous humor morphology, Retinal detachment, Re...	ORPHA:828
Cystic Fibrosis	Cor pulmonale, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatospl...	OMIM:219700
Lyme Disease	Infectious encephalitis, Arthritis, Uveitis	ORPHA:91546
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Dystonia, Failure to thrive, Exaggerated startle response	ORPHA:521426
Sarcoidosis, Susceptibility To, 2	Bronchiectasis, Erythema nodosum, Uveitis	OMIM:612387
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Cogan Syndrome	Keratitis, Episcleritis, Scleritis, Inflammatory abnormality of the eye, Conjunctivitis, Uveitis	ORPHA:1467
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Sarcoidosis	Cataract, Enlarged lacrimal glands, Diabetes insipidus, Parotitis, Enlargement of parotid gland, ...	ORPHA:797
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Localized Scleroderma	Fasciitis, Esophagitis, Hashimoto thyroiditis, Arthritis, Uveitis	ORPHA:90289
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level	OMIM:103900
Leptospirosis	Uveitis, Hepatitis, Macular cotton wool spot, Chorioretinitis, Skin rash, Conjunctival hyperemia,...	ORPHA:509
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Uveitis, Blepharitis, Iritis	ORPHA:158000
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Oculodentodigital Dysplasia	Cataract, Microcornea, Uveitis	OMIM:164200
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Irregular menstruation, Hypokalemia, Decreased circulating renin level	ORPHA:90795
Cystic Fibrosis	Absent vas deferens, Bronchiectasis, Male infertility, Sinusitis	ORPHA:586
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Abnormal heart morphology, Patent foramen ovale, Ventri...	ORPHA:438213
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Chorioretinitis, Iridocyclitis, Ar...	OMIM:181000
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocyclitis, Arthritis, Ent...	ORPHA:85408
Holoprosencephaly 2	Anterior pituitary agenesis, Chorioretinal coloboma, Adrenal hypoplasia, Remnants of the hyaloid ...	OMIM:157170
Noonan Syndrome 1	Hypogonadism, Cryptorchidism, Synovitis, Hypospadias, Patent ductus arteriosus, Male infertility	OMIM:163950
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Scleritis, Keratoconjunctivitis, Corneal ulceration, Recurrent bacterial...	ORPHA:95159
Primary Sclerosing Cholangitis	Cholelithiasis, Type I diabetes mellitus, Hepatitis, Pancreatitis, Neoplasm of the gallbladder, U...	ORPHA:171
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Scleritis, Keratoconjunctivitis, Corneal ulceration, Recurrent bacterial...	ORPHA:79277
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response	OMIM:618367
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Hypoglycemia, Decreased circulating renin level, Hyponatremia, Cho...	OMIM:201750
Pauci-Immune Glomerulonephritis	Arteritis, Scleritis, Pancreatitis, Glomerulonephritis, Tubulointerstitial nephritis, Crescentic ...	ORPHA:93126
Cohen Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cryptorchidism, Chorioretinal dystrophy, Dela...	ORPHA:193
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Attention deficit hyperactivity disorder, Chordee, Atrial septal defec...	OMIM:619522
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010

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	Life Stage
Eye - MPATH pathological entity term cataract; lens extrusion	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Liver - MPATH pathological process term hydropic degeneration	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term aspermia	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological process term dysplasia	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Liver - MPATH pathological process term vacuolation	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Testis - MPATH pathological entity term germ cell defect	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Liver - MPATH pathological entity term steatosis	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological entity term germ cell defect	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Liver - MPATH pathological process term hydropic degeneration	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Eye - MPATH pathological entity term cataract; lens extrusion	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term spermatogenesis defect	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Eye - MPATH pathological process term vacuolation	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Eye - MPATH pathological process term vacuolation	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term spermatogenesis defect	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Epididymis - MPATH pathological process term aspermia	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological process term dysplasia	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Epididymis - MPATH pathological process term aspermia	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Liver - MPATH pathological process term vacuolation	Vps13b^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term dysplasia	Vps13b^em1(IMPC)Tcp	HOM	Late adult
Liver - MPATH pathological entity term steatosis	Vps13b^em1(IMPC)Tcp	HOM	Late 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)	Vps13b^em1(IMPC)Tcp	PMC9325472

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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
Vps13b^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Vps13b MGI:1916380

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

Eye Morphology

Eye Morphology

Gross Pathology and Tissue Collection

Histopathology

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

Electrocardiogram (ECG)

X-ray

X-ray

Histopathology

X-ray

X-ray

X-ray

Human diseases caused by Vps13b mutations

Histopathology

IMPC related publications

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