Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Vps13bem1(IMPC)Tcp HOM Early adult 0.00
decreased exploration in new environment Vps13bem1(IMPC)Tcp HOM   Early adult 1.11×10-07
abnormal retina vasculature morphology Vps13bem1(IMPC)Tcp HOM Early adult 1.41×10-05
small spleen Vps13bem1(IMPC)Tcp HOM Early adult 0.00
decreased lymphocyte cell number Vps13bem1(IMPC)Tcp HOM   Early adult 8.81×10-05
decreased lean body mass Vps13bem1(IMPC)Tcp HOM Early adult 4.65×10-10
increased mean corpuscular volume Vps13bem1(IMPC)Tcp HOM Early adult 8.47×10-06
small heart Vps13bem1(IMPC)Tcp HOM Early adult 0.00
abnormal liver morphology Vps13bem1(IMPC)Tcp HOM Early adult 0.00
male infertility Vps13bem1(IMPC)Tcp HOM Early adult 0.00
decreased body length Vps13bem1(IMPC)Tcp HOM Early adult 4.59×10-08
decreased circulating alkaline phosphatase level Vps13bem1(IMPC)Tcp HOM Early adult 6.93×10-10
persistence of hyaloid vascular system Vps13bem1(IMPC)Tcp HOM Early adult 1.41×10-05
increased total body fat amount Vps13bem1(IMPC)Tcp HOM Early adult 3.18×10-11
increased startle reflex Vps13bem1(IMPC)Tcp HOM Early adult 2.84×10-05
decreased leukocyte cell number Vps13bem1(IMPC)Tcp HOM   Early adult 1.63×10-05
preweaning lethality, incomplete penetrance Vps13bem1(IMPC)Tcp HOM   Early adult 0.00
abnormal skin morphology Vps13bem1(IMPC)Tcp HOM Early adult 0.00
impaired glucose tolerance Vps13bem1(IMPC)Tcp HOM Early adult 3.87×10-05
abnormal retina blood vessel morphology Vps13bem1(IMPC)Tcp HOM Early adult 1.41×10-05
abnormal lens morphology Vps13bem1(IMPC)Tcp HOM Early adult 7.91×10-08

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

88 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

34 Images

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

16 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Vps13b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract, Rod-cone dystrophy OMIM:300719
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Chorioretinal coloboma OMIM:274205
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Retinitis Pigmentosa 86
Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618613
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Cataract, Decreased testicular size, Abnormal sperm head mor... ORPHA:320391
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Macroorchidism ORPHA:3000
Spastic Paraparesis And Deafness
Cataract, Hypogonadism OMIM:312910
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism ORPHA:2815
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy, Micropenis OMIM:610156
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus OMIM:615703
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Uveal Melanoma
Inferior lens subluxation, Iris melanoma, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy, Micropenis ORPHA:75858
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, 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
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Rod-cone dystrophy, Retinal coloboma, Cataract, Hypogonadism, Crypto... ORPHA:363741
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Knobloch Syndrome 1
Lens subluxation, Band keratopathy, Chorioretinal atrophy, Retinal detachment, Attenuation of ret... OMIM:267750
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating... OMIM:240950
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma, Cataract, Hypogonadism, Cryptorchidism OMIM:601794
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy, Hypogonadism OMIM:268050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Decreased testicular size, Hypogonadism ORPHA:1875
Young Syndrome
Bronchiectasis, Azoospermia OMIM:279000
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Congenital stationa... ORPHA:8
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Galactokinase Deficiency
Hyperinsulinemia, Nuclear cataract, Hypergonadotropic hypogonadism, Cataract, Premature ovarian i... ORPHA:79237
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Martsolf Syndrome 2
Hypogonadotropic hypogonadism, Cataract, Developmental cataract OMIM:619420
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Atrial septal defect, Persistence of hemogl... OMIM:612561
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Hypoplasia of penis, Abnormal retinal vasc... ORPHA:791
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Neurofibromatosis, Type Ii
Cortical cataract, Epiretinal membrane, Juvenile posterior subcapsular lenticular opacities, Reti... OMIM:101000
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Hypogonadism ORPHA:2528
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Posterior subcapsular cataract, Epiretinal membrane, Ret... ORPHA:637
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h... ORPHA:811
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Macrocytic ... ORPHA:2169
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Premature ovarian insufficiency, Retinal dystrophy ORPHA:3156
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Cataract, Chorioretinal coloboma ORPHA:2489
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... ORPHA:91348
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Hypogonadism ORPHA:1466
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Premature ovarian insufficiency ORPHA:2278
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Cat... ORPHA:2410
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Pyelonephritis, Cryptorchidism, Oligospermia, Nephritis OMIM:314300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotrop... ORPHA:3085
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... ORPHA:231222
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Elevated hep... ORPHA:98870
Myotonic Dystrophy 2
Type II diabetes mellitus, Oligospermia, Posterior subcapsular cataract, Iridescent posterior sub... OMIM:602668
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Knobloch Syndrome 2
Anterior cortical cataract, Retinal detachment, Vitreoretinopathy, Patent ductus arteriosus, Vitr... OMIM:618458
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Cataract, ... ORPHA:280679
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Autosomal Dominant Optic Atrophy And Cataract
Anterior cortical cataract, Cerulean cataract, Posterior subcapsular cataract, Optic atrophy, Cat... ORPHA:67036
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Chronic rhinitis, Recurrent sinusitis, Male infertility, Chronic sinusitis,... OMIM:612444
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Retinal hemorrha... ORPHA:86839
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Irritability, Splenomegaly, Extramedullary hematopoiesis, Anis... ORPHA:231226
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Chronic ... OMIM:617091
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Male infertility, Absent inner and outer dynein arms, Bronchiectasis OMIM:618801
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Optic nerve hypoplasia, Astigmatism, Ventricular septal defect... ORPHA:261250
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Arthritis, Azoospermia OMIM:602390
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Failure to thrive, Flexion co... OMIM:609628
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Abnormal heart morphology, Neutropenia, Atrial septal defect, ... ORPHA:124
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Cataract, ... OMIM:300845
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impotence, Hepatomegaly, Cirrh... OMIM:606069
Retinal Dystrophy With Or Without Macular Staphyloma
Nuclear cataract, Retinal dystrophy OMIM:617547
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... ORPHA:91351
Lead Poisoning
Infertility, Decreased male libido, Skin rash, Reduced sperm motility, Oligospermia, Abnormality ... ORPHA:330015
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Irregular menstruation, Attenuation of retinal blood ve... OMIM:615986
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligospermia, Optic atrophy, Keratoconus, Hypogonadism ORPHA:2067
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Cholelithiasis, Iridocyclitis, Chronic active hepatitis... OMIM:240300
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Recurrent sinusitis, Male infertility, Recurrent otitis media, Rhinitis, Absent o... OMIM:614874
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Eczema, Cataract, External genital hypoplasia OMIM:612947
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy OMIM:221800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot, Macrocytic... OMIM:612562
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... ORPHA:300298
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Failure to thrive, Hepatocellular necrosis, Hepatomegaly, Micr... OMIM:618278
Cataract 2, Multiple Types
Developmental cataract, Nuclear cataract, Microcornea OMIM:604307
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract, Vaginal hernia ORPHA:3173
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Otitis media, Absent inner dynein arms, Abnormal axonemal... OMIM:613807
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
4H Leukodystrophy
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Optic atrop... ORPHA:289494
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Wolfram Syndrome 1
Testicular atrophy, Pigmentary retinopathy, Optic atrophy, Hypothyroidism, Cataract, Diabetes mel... OMIM:222300
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Hemochromatosis, Type 3
Amenorrhea, Increased circulating ferritin concentration, Impotence, Lymphopenia, Hypogonadotropi... OMIM:604250
Idiopathic Anterior Uveitis
Nuclear cataract, Increased cup-to-disc ratio, Macular edema, Posterior subcapsular cataract, Pos... ORPHA:280914
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... OMIM:619774
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... ORPHA:786
Classic Galactosemia
Action tremor, Hepatomegaly, Hepatic failure, Mental deterioration, Oligomenorrhea, Primary ameno... ORPHA:79239
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Cataract, Hypogonadism OMIM:160900
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ... OMIM:611590
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Right atrial enlargement, Restrictive cardiomyopath... OMIM:619313
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Ciliary Dyskinesia, Primary, 40
Infertility, Chronic rhinitis, Chronic sinusitis, Patent ductus arteriosus, Azoospermia, Absent o... OMIM:618300
Wagr Syndrome
Ambiguous genitalia, Cataract, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypop... ORPHA:893
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Retinal... OMIM:616959
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Leber Congenital Amaurosis 1
Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fundus atrophy, ... OMIM:204000
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Zonular cataract, Microcornea, Cataract, Hypogonadism, Cryptorchidism OMIM:268400
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... ORPHA:90044
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... ORPHA:231736
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Giant cell hepatitis, Type II diabetes mellitus, Pigmentary retinopathy, Cataract... ORPHA:79095
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Mevalonic Aciduria
Nuclear cataract, Skin rash, Attenuation of retinal blood vessels, Optic disc pallor, Cataract, M... OMIM:610377
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Apathy, Abnormal retinal vascular morphology, Cognitive i... ORPHA:247691
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract, Hypogonadism OMIM:302950
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Tubulointerstitial nephritis, Male infertility, Hypogonadism, Abnormal testis morph... ORPHA:85450
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... ORPHA:432
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:300578
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... OMIM:613179
Dwarfism, Mental Retardation, And Eye Abnormality
Hypoplasia of the iris, Nuclear cataract OMIM:223540
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Bloom Syndrome
Cheilitis, Skin rash, Otitis media, Retinopathy, Oligospermia, Male infertility, Uveitis, Pneumon... ORPHA:125
Craniolenticulosutural Dysplasia
Optic atrophy, Cryptorchidism, Punctate cataract, Posterior Y-sutural cataract OMIM:607812
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Corneal stromal edema, Glycosur... ORPHA:699
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Failure to thrive, Lymphopenia, Hepatomegaly, Jaundice, Ab... ORPHA:276
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Castleman Disease
Decreased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Restric... ORPHA:160
3-Methylglutaconic Aciduria, Type Viib
Cataract, Recurrent pneumonia, Zonular cataract OMIM:616271
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Psoriasiform dermatitis, Macular edema, ... ORPHA:279914
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... OMIM:619924
Ciliary Dyskinesia, Primary, 19
Recurrent sinusitis, Male infertility, Recurrent otitis media, Bronchiectasis, Rhinitis, Absent i... OMIM:614935
Cataract 49
Posterior cortical cataract OMIM:619593
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Lissencephaly Syndrome, Norman-Roberts Type
Abnormal retinal morphology, Patent foramen ovale, Atrial septal defect, Hypoplastic spleen ORPHA:89844
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Ataxia-Telangiectasia
Failure to thrive, Type II diabetes mellitus, Lymphopenia, Cognitive impairment, Elevated hepatic... ORPHA:100
Hereditary Bullous Dystrophy, Macular Type
Corneal opacity, External genital hypoplasia, Cataract, Decreased testicular size, Pneumonia, Cry... ORPHA:1867
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
8P11.2 Deletion Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... ORPHA:251066
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Dense posterior cortical cataract, Developmental cataract OMIM:309000
Warburg Micro Syndrome 3
Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Hypoplastic labia minora, Catar... OMIM:614222
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cataract OMIM:613730
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Lymphopenia, Neutropenia OMIM:614868
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Microcornea, Retinal dystrophy, Iris coloboma, Ca... ORPHA:139471
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... OMIM:602450
Autosomal Dominant Optic Atrophy, Classic Form
Morning glory anomaly, Temporal optic disc pallor, Optic atrophy, Hypothyroidism, Cataract, Hypog... ORPHA:98673
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Ciliary Dyskinesia, Primary, 1
Abnormal cornea morphology, Chronic otitis media, Chronic rhinitis, Male infertility, Chronic sin... OMIM:244400
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Coccidioidomycosis
Abnormality of the endocrine system, Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Perito... ORPHA:228123
Cockayne Syndrome Type 2
Uveitis, Developmental cataract, Male hypogonadism, Cryptorchidism, Conjunctivitis ORPHA:90322
Warburg Micro Syndrome 2
Micropenis, Microcornea, Optic atrophy, Cataract, Developmental cataract, Hypoplastic labia major... OMIM:614225
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Neutropenia, ... OMIM:180080
Eisenmenger Syndrome
Increased mean corpuscular volume, Bacterial endocarditis, Hepatomegaly, Atrial septal defect, El... ORPHA:97214
Walker-Warburg Syndrome
Corneal opacity, Hypoplasia of penis, Retinal detachment, Microcornea, Retinal dystrophy, Optic a... ORPHA:899
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media OMIM:618948
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Microphthalmia, Syndromic 5
Micropenis, Optic nerve hypoplasia, Microcornea, Retinal dystrophy, Ectopic posterior pituitary, ... OMIM:610125
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Congenital Microcoria
Hypoplastic iris stroma, Nuclear cataract, Corneal stromal edema, Megalocornea, Astigmatism, Iris... ORPHA:566
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Microcornea, Clitoral... ORPHA:2510
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymph... ORPHA:277
Mirage Syndrome
Decreased body weight, Lymphopenia, Hypergonadotropic hypogonadism, Leukopenia, Hypoglycemia, Hyp... OMIM:617053
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Cat... OMIM:157640
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... OMIM:120200
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Panuveitis, Corneal stromal edema, Posterior uveitis, Tractional retinal... ORPHA:209959
Werner Syndrome
Diabetes mellitus, Cataract, Retinal degeneration, Hypogonadism OMIM:277700
Norrie Disease
Corneal opacity, Remnants of the hyaloid vascular system, Abnormal pupil morphology, Abnormal ret... ORPHA:649
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Cataract, Pigmentary retinopathy, Hypogonadism OMIM:610651
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Behcet Syndrome
Hypopyon, Iridocyclitis, Iritis, Genital ulcers, Chorioretinitis, Arthritis, Epididymitis, Erythe... OMIM:109650
Transketolase Deficiency
Secondary amenorrhea, Uveitis, Cataract, Type I diabetes mellitus, Patent ductus arteriosus, Sebo... ORPHA:488618
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus OMIM:614813
Kapur-Toriello Syndrome
Micropenis, Retinal coloboma, Iris coloboma, Cataract, Patent ductus arteriosus, Cryptorchidism, ... OMIM:244300
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Systemic Lupus Erythematosus 17
Optic neuritis, Lymphopenia, Leukopenia, Anxiety, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Spondyloocular Syndrome
Unilateral cryptorchidism, Cataract, Retinal detachment OMIM:605822
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Cockayne Syndrome Type 1
Pigmentary retinopathy, Optic atrophy, Uveitis, Cataract, Male hypogonadism, Cryptorchidism, Conj... ORPHA:90321
Bardet-Biedl Syndrome 1
Nephrogenic diabetes insipidus, Retinal degeneration, Bone spicule pigmentation of the retina, Mi... OMIM:209900
Hereditary Leiomyomatosis And Renal Cell Cancer
Vaginal neoplasm, Cataract, Uterine leiomyoma, Uterine leiomyosarcoma ORPHA:523
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Congenital Hypothyroidism
Sinusitis, Abnormality of the thyroid gland, Thyroid dysgenesis, Anterior hypopituitarism, Optic ... ORPHA:442
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... ORPHA:465508
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... OMIM:618986
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Lymphadenopathy,... OMIM:617591
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:169154
Aniridia-Absent Patella Syndrome
Cryptorchidism, Cataract, Aniridia ORPHA:1069
Proteus-Like Syndrome
Abnormal pupil morphology, Retinal detachment, Limbal dermoid, Abnormality of the parathyroid gla... ORPHA:2969
Cowden Syndrome 6
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Varicocele, Cataract, Angioid st... OMIM:615109
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Cowden Syndrome 5
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Hypothyroidism, Cataract, Angioid streaks of the... OMIM:615108
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... OMIM:400045
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Optic atrophy, Ambiguous genitalia, Cataract, Clitoral hypertrophy ORPHA:543470
Hereditary Cryohydrocytosis With Reduced Stomatin
Cataract, Zonular cataract ORPHA:168577
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Ataxia-Telangiectasia
Failure to thrive, Glucose intolerance, Lymphopenia, Intention tremor, Elevated alpha-fetoprotein... OMIM:208900
Primary Ciliary Dyskinesia
Female infertility, Rod-cone dystrophy, Chronic otitis media, Chronic rhinitis, Male infertility,... ORPHA:244
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein co... OMIM:615688
Carney Complex
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:1359
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... OMIM:617948
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Stillbirth, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Sneddon Syndrome
Bicuspid aortic valve, Lymphopenia, Mental deterioration, Tremor, Atrophic scars OMIM:182410
Pierson Syndrome
Remnants of the hyaloid vascular system, Uveal ectropion, Retinal detachment, Posterior lenticonu... OMIM:609049
Antiphospholipid Syndrome, Familial
Keratitis, Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Vitr... OMIM:107320
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Sandhoff Disease
Impotence, Hepatomegaly, Exaggerated startle response, Cherry red spot of the macula, Progressive... OMIM:268800
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Muckle-Wells Syndrome
Skin rash, Arthritis, Optic atrophy, Uveitis, Recurrent aphthous stomatitis, Delayed puberty, Epi... ORPHA:575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Usher Syndrome
Astigmatism, Abnormality of retinal pigmentation, Cataract, Decreased fertility ORPHA:886
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Short Stature, Developmental Delay, And Congenital Heart Defects
Uveitis, Patent ductus arteriosus, Developmental cataract OMIM:617044
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Tetraamelia-Multiple Malformations Syndrome
Microcornea, Optic atrophy, Iris coloboma, Cataract, Septo-optic dysplasia, Vaginal atresia, Cryp... ORPHA:3301
Gracile Bone Dysplasia
Failure to thrive, Hypocalcemia, Hypoplastic spleen, Aniridia, Asplenia OMIM:602361
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenome... ORPHA:331206
Agammaglobulinemia, X-Linked
Prostatitis, Enteroviral hepatitis, Cor pulmonale, Hepatocellular carcinoma, B lymphocytopenia, T... OMIM:300755
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Pigmentary retinopathy, Pe... OMIM:309801
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Diabetes mellitus OMIM:614162
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Chronic sinusitis, Recurrent otitis media OMIM:619607
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Buphthalmos, Optic nerve hypoplasia, Megalocornea, Retinal detachment, Optic atr... OMIM:236670
Cyclic Neutropenia
Lymphopenia, Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neu... ORPHA:2686
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Abnormal lymphat... ORPHA:90362
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Atrial septal defect, Exaggerated startle response, Flexion contracture, Pul... OMIM:253800
Legionnaires Disease
Pancreatitis, Lymphopenia, Cellulitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Hypona... ORPHA:549
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadenitis, Abscess, Hem... OMIM:618935
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Arthrogryposis And Ectodermal Dysplasia
Nuclear cataract, Diabetes mellitus OMIM:601701
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Band keratopathy, Anterior chamber synechiae, Rheumatoid arthritis, Uveitis, Cata... ORPHA:85410
Aarskog-Scott Syndrome
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... OMIM:305400
Blau Syndrome
Band keratopathy, Cystoid macular edema, Iritis, Eczema, Arthritis, Uveitis, Cataract, Nongranulo... OMIM:186580
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatomegaly, Inguinal hernia, Splenomegaly, Secundum atrial sept... OMIM:612541
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Microphthalmia, Syndromic 9
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Multilobulated spleen, Pu... OMIM:601186
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Macrocephaly/Autism Syndrome
Obesity, Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic hyp... ORPHA:91
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis OMIM:268100
Nephrotic Syndrome, Type 14
Lymphopenia, Mental deterioration, Hypoglycemia, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism OMIM:617575
Whipple Disease
Myositis, Myocarditis, Arthritis, Hypothyroidism, Erectile dysfunction, Uveitis, Infectious encep... ORPHA:3452
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Inguinal hernia, Abnormal circulating lipid concentration, Cognitive impairment, Tru... OMIM:616541
Nance-Horan Syndrome
Developmental cataract, Microcornea, Posterior Y-sutural cataract OMIM:302350
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anterior pituitary hypoplasia, Micropenis, Hypogonadotropic hypogonadism, Hy... OMIM:206900
Stiff-Person Syndrome
Agoraphobia, Exaggerated startle response, Opisthotonus, Anxiety, Diabetes mellitus, Anemia OMIM:184850
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Elevated circulating C-reactive protein concentration, Leukopenia... OMIM:615934
Immunodeficiency 36
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... OMIM:616005
Incontinentia Pigmenti
Keratitis, Supernumerary nipple, Retinal vascular proliferation, Maculopapular exanthema, Retinal... OMIM:308300
Fusariosis
Keratitis, Lymphopenia, Cellulitis, Peritonitis, Abnormality of the spleen, Brain abscess, Abnorm... ORPHA:228119
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Tubulointerstitial Nephritis And Uveitis Syndrome
Panuveitis, Posterior uveitis, Cataract, Scleritis, Macular edema, Vitreous hemorrhage, Anterior ... ORPHA:91500
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Tetrasomy 9P
Infertility, Micropenis, Oligospermia, Myositis, Abnormal chorioretinal morphology, Pericarditis,... ORPHA:3310
Idiopathic Panuveitis
Cystoid macular edema, Cataract, Choroidal neovascularization, Epiretinal membrane, Vitreous floa... ORPHA:280921
Cinca Syndrome
Papilledema, Uveitis, Skin rash, Arthritis OMIM:607115
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cherry red spot of the macu... ORPHA:309246
Progeroid Short Stature With Pigmented Nevi
Chordee, Allergic conjunctivitis, Hypospadias, Allergic rhinitis, Cataract, Delayed puberty, Diab... OMIM:176690
Alström Syndrome
Hyperinsulinemia, Pancreatitis, Decreased fertility in males, Otitis media, Hypergonadotropic hyp... ORPHA:64
Syndromic Diarrhea
Bicuspid aortic valve, Lymphopenia, Hepatomegaly, Inguinal hernia, Splenomegaly, Small for gestat... ORPHA:84064
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy, Cataract, Neutropenia, ... ORPHA:508542
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Uveitis, Glomerulonephritis, Acute tubulointerstitial nephritis OMIM:607665
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Failure to thrive secondary to recurren... ORPHA:169160
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatic failure, Cervical ly... OMIM:619573
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Corneal opacity, Hyperlipidemia, Lymphopenia, Pancreatitis, Small for gestatio... ORPHA:1830
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hepatomegaly, Retinal pigment epithelial mottling, Glycosuria,... OMIM:219800
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Cohen Syndrome
Small for gestational age, Leukopenia, Optic atrophy, Mitral valve prolapse, Childhood-onset trun... OMIM:216550
Familial Cold Autoinflammatory Syndrome 1
Uveitis, Conjunctivitis, Skin rash, Arthritis OMIM:120100
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Skin rash, Peritonitis, Erysipelas, Myositis, Arthritis, Uveitis, Fasciitis, Pericardit... ORPHA:32960
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Incontinentia Pigmenti