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Gene: Plac8 MGI:2445289

Gene Summary

Name:

placenta-specific 8

Synonyms:

C15, D5Wsu111e, onzin

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
abnormal retina morphology	Plac8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.31×10^-06
abnormal coat appearance	Plac8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.07×10^-05
abnormal retina vasculature morphology	Plac8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.50×10^-06
persistence of hyaloid vascular system	Plac8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.34×10^-06
abnormal lens morphology	Plac8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.58×10^-11
abnormal vitreous body morphology	Plac8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.80×10^-05
cataract	Plac8^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.19×10^-10

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

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Electrocardiogram (ECG)

Waveform Image

24 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Immunophenotyping

Panel B FCS file(s)

3 Images

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Immunophenotyping

Panel A FCS file(s)

3 Images

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Human diseases caused by Plac8 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 Plac8 (0 diseases)
Human diseases predicted to be associated with Plac8 (625 diseases)

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

The table below shows human diseases predicted to be associated to Plac8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr...	OMIM:310350
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent...	OMIM:245480
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect...	OMIM:616022
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Immunodeficiency 53	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect...	OMIM:617585
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ...	OMIM:613495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections, Monocytopenia, Neutropenia	ORPHA:86788
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Foveal Hypoplasia-Presenile Cataract Syndrome	Optic atrophy, Cataract	ORPHA:2253
X-Linked Retinoschisis	Cataract, Retinoschisis	ORPHA:792
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D...	OMIM:300988
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Rod-cone dystrophy	OMIM:300719
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:613801
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs...	OMIM:608957
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane, Retinal detachment	OMIM:620253
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV...	OMIM:619437
Coats Disease	Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ...	ORPHA:190
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V...	OMIM:143200
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 51	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Cutaneous abscess, Recurrent...	OMIM:613953
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu...	ORPHA:231736
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Cataract	OMIM:165300
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:618220
Retinitis Pigmentosa 9	Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr...	OMIM:180104
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen...	OMIM:614292
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast...	OMIM:605258
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Decreased circulating antibody level, Recurrent fungal ...	OMIM:616873
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ...	OMIM:193230
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Choroidal neovascularization, Cataract, Retinal thinning, Epir...	ORPHA:179
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Foveal Hypoplasia 1	Hypoplasia of the fovea, Presenile cataracts	OMIM:136520
Stickler Syndrome Type 2	Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity	ORPHA:90654
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma...	ORPHA:411527
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Adult Idiopathic Neutropenia	Lymphopenia, Helicobacter pylori infection, Recurrent fungal infections, Monocytopenia, Neutropen...	ORPHA:2688
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag...	OMIM:615214
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Uncombable Hair Syndrome 2	Pili canaliculi, Uncombable hair, Juvenile cataract	OMIM:617251
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh...	OMIM:614500
Myopia 28, Autosomal Recessive	Cataract, Retinal detachment	OMIM:619781
Retinitis Pigmentosa 4	Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi...	OMIM:613731
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Immunodeficiency 32B	Recurrent infections, BCGitis, Impaired oxidative burst, Abnormal circulating IgG level, Splenome...	OMIM:226990
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Tractional retinal detachment, Shallow anterior cha...	OMIM:613310
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I...	OMIM:607676
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach...	OMIM:610202
Bardet-Biedl Syndrome 18	Cataract, Rod-cone dystrophy, Retinal dystrophy	OMIM:615995
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Anemia, Thrombocyt...	ORPHA:169079
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Familial Exudative Vitreoretinopathy	Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret...	ORPHA:891
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Morm Syndrome	Cataract, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Eosinophilia, Familial	Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:131400
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:607594
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit...	OMIM:607624
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Abscess, Autoimmune hemolytic anemia, Decre...	OMIM:619374
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Retinopathy Of Prematurity	Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme...	ORPHA:90050
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Reduction of neutrophil motility, Bronchiolitis, Neutrophilia	OMIM:266265
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Immunodeficiency 108 With Autoinflammation	Epistaxis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei, Recurrent absce...	OMIM:260570
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Woolly Hair	Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Woolly ...	ORPHA:170
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp...	OMIM:614172
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ...	OMIM:608184
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Microphthalmia, Isolated 5	Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule...	OMIM:611040
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233710
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone...	OMIM:616108
Stickler Syndrome, Type V	Cataract, Retinal detachment, Vitreoretinopathy	OMIM:614284
Leber Congenital Amaurosis 8	Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla...	OMIM:613835
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag...	OMIM:267500
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Exudative Vitreoretinopathy 3	Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold	OMIM:605750
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe...	OMIM:225200
Aniridia 2	Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma	OMIM:617141
Leber Congenital Amaurosis 2	Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of retinal blood vessels, Fundus atrop...	OMIM:204100
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233690
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Thrombocyt...	OMIM:619281
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Morning Glory Disc Anomaly	Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia	OMIM:610798
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal exudate, Cataract, Nuclear cataract, Posterior vitreous deta...	OMIM:616468
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Astigmatism, Retinal d...	OMIM:616188
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Vitreoretinochoroidopathy	Pigmentary retinopathy, Microcornea, Retinal arteriolar constriction, Abnormality of chorioretina...	OMIM:193220
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Nathalie Syndrome	Cataract	ORPHA:2663
Neovascular Glaucoma	Abnormal optic nerve morphology, Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Retino...	ORPHA:94058
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ...	OMIM:616941
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections...	ORPHA:319552
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Abnormality of retinal pigmentation, Optic disc pallor, Retinal detachment, Chorioretin...	OMIM:251270
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Childhood-onset truncal obesity, Increased adipose tissue	ORPHA:71529
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne...	ORPHA:1473
Immunodeficiency 46	Sepsis, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutropenia, Anemia, M...	OMIM:616740
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Leg, Absence Deformity Of, With Congenital Cataract	Developmental cataract, Progressive cataract, Optic nerve dysplasia	OMIM:246000
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly	OMIM:606445
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Cataract	OMIM:620312
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ...	OMIM:300636
Exudative Vitreoretinopathy 4	Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d...	OMIM:601813
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Myopia 17, Autosomal Dominant	Presenile cataracts, Retinal hole	OMIM:608367
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Increased circulating ...	OMIM:243700
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Recurrent viral infections, Recurrent ent...	ORPHA:331206
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Retinitis Pigmentosa 86	Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,...	OMIM:618613
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Primary Erythromelalgia	Leukemia, Hypothermia	ORPHA:90026
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent mycobacterial infections, Decreased circulating IgG level, Invasive fungal infection, C...	ORPHA:98813
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo...	OMIM:177650
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased circulating antibody leve...	OMIM:614470
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ...	ORPHA:275
Adiposis Dolorosa	Painful subcutaneous lipomas, Obesity	OMIM:103200
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea, Rod-cone dystrophy	OMIM:619082
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe...	OMIM:620632
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal...	OMIM:212550
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 69	Hemophagocytosis, BCGitis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, BCGosis,...	OMIM:618963
Retinitis Pigmentosa 2	Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat...	OMIM:312600
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Chronic mucocutaneous candidiasis...	ORPHA:911
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Telangiectasia of the skin, Granuloma	ORPHA:542592
Persistent Hyperplastic Primary Vitreous	Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme...	ORPHA:91495
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the...	OMIM:120200
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ...	OMIM:612840
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Autosomal Dominant Severe Congenital Neutropenia	Recurrent viral infections, Aplastic anemia, Leukemia, Lymphopenia, Recurrent infection of the ga...	ORPHA:486
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cystoid macular edema, Reti...	OMIM:617304
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Eales Disease	Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularization, Vitritis...	ORPHA:40923
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Abnormality of venous ...	ORPHA:90064
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Shallow anterior chamber, Macular atrophy	OMIM:267760
Leber Congenital Amaurosis 6	Cataract, Keratoconus, Attenuation of retinal blood vessels	OMIM:613826
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia	ORPHA:171844
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Recurrent Burkholderia cepacia i...	OMIM:306400
Retinitis Pigmentosa 50	Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt...	OMIM:613194
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Retinitis Pigmentosa 46	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod...	OMIM:612572
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Idiopathic Congenital Hypothyroidism	Hypothermia, Umbilical hernia	ORPHA:95717
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Cataract, Macular degeneration, Retinal degeneration, Rod-cone dystrophy	OMIM:204200
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired ...	OMIM:618935
Lymphoproliferative Syndrome, X-Linked, 1	Vasculitis, Abnormal T cell count, Decreased circulating IgG level, Aplastic anemia, Hemophagocyt...	OMIM:308240
Leber Congenital Amaurosis 1	Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d...	OMIM:204000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
T-Cell Immunodeficiency With Thymic Aplasia	Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can...	ORPHA:83471
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bull's eye maculopathy, Bon...	OMIM:180105
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Retinitis Pigmentosa 83	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Asteroid hyalosis, Vitreous...	OMIM:618173
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Vogt-Koyanagi-Harada Disease	Cataract, Premature graying of hair, Abnormal eyebrow morphology, Retinal detachment, Abnormal ey...	ORPHA:3437
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Recurrent otitis media, Absent neutrophil specific granules, Anemia,...	OMIM:617475
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low...	OMIM:308230
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec...	ORPHA:169154
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract	ORPHA:1264
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Chorioretinal coloboma	ORPHA:2489
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cataract, Microcornea, Retinopathy, Macular atrophy, Optic disc pallor	OMIM:616171
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recurrent epi...	OMIM:214500
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm...	OMIM:263300
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Meningitis, Au...	ORPHA:331235
Norrie Disease	Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Buphthalmos...	OMIM:310600
Retinitis Pigmentosa 56	Pigmentary retinopathy, Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal ...	OMIM:613581
Leber Congenital Amaurosis	Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract	ORPHA:65
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Hypothermia, Umbilical hernia	ORPHA:226313
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Neutropenia, Thro...	OMIM:603585
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity	ORPHA:293964
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia, Agammaglobulinemia	OMIM:619693
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe...	ORPHA:1067
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Leukocytosis, Recurrent gram-negative bacterial infections, Re...	OMIM:116920
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone...	OMIM:602772
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract, Retinopathy	OMIM:183800
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis	OMIM:268100
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Purine Nucleoside Phosphorylase Deficiency	Recurrent upper respiratory tract infections, Recurrent viral infections, Cerebral vasculitis, Re...	OMIM:613179
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Retinal dystrophy	OMIM:610156
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Galactosemia Ii	Cataract	OMIM:230200
Pgm3-Cdg	Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia,...	ORPHA:443811
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Riboflavin Deficiency	Hypothermia	OMIM:615026
Gyrate Atrophy Of Choroid And Retina	Cataract, Abnormal macular morphology, Abnormal hair morphology, Chorioretinal atrophy, Subcapsul...	ORPHA:414
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Hypothermia, Inguinal hernia, Joint contracture	OMIM:614498
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopeni...	OMIM:150550
Galactosemia Iv	Cataract	OMIM:618881
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip...	OMIM:618195
Senior-Loken Syndrome	Cataract, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Abnormal fundus morphology, Ciliary body mel...	ORPHA:39044
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity, Inguinal hernia	OMIM:300209
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system	OMIM:257910
Obesity Due To Prohormone Convertase I Deficiency	Obesity, Childhood-onset truncal obesity, Failure to thrive, Increased adipose tissue	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Obesity, Childhood-onset truncal obesity, Failure to thrive, Increased adipose tissue	ORPHA:71526
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia	OMIM:610006
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve...	OMIM:618048
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hernia of the abdominal wall, Obesity	ORPHA:3055
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia...	OMIM:615387
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Retinitis Pigmentosa 43	Pigmentary retinopathy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Bon...	OMIM:613810
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age	OMIM:256450
Omenn Syndrome	Severe B lymphocytopenia, Recurrent viral infections, Splenomegaly, Hypoplasia of the thymus, Eos...	OMIM:603554
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Retinitis Pigmentosa 23	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal...	OMIM:300424
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Elbow flexion contracture, Obesity, Hypothermia, Hip contracture, Abnormality of temperatu...	OMIM:618493
Chédiak-Higashi Syndrome	Epistaxis, Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Hemophagocy...	ORPHA:167
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg...	ORPHA:83461
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmu...	OMIM:620565
Autosomal Recessive Stickler Syndrome	Astigmatism, Cataract, Retinal detachment, Vitreoretinopathy	ORPHA:250984
Immunodeficiency 23	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Molluscum contagiosum, Lymph...	OMIM:615816
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Monilethrix	Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai...	ORPHA:573
Idiopathic Aplastic Anemia	Epistaxis, Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thr...	ORPHA:88
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Severe varicella zoster infection, Recurren...	OMIM:606367
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
Intermediate Uveitis	Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina...	ORPHA:279914
Flynn-Aird Syndrome	Cataract, Alopecia, Alopecia of scalp, Rod-cone dystrophy	OMIM:136300
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypothermia, Failure to thrive	OMIM:245400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Re...	OMIM:307200
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ...	OMIM:613470
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb...	OMIM:616216
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology	ORPHA:98848
Fuchs Heterochromic Iridocyclitis	Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ...	ORPHA:263479
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Hepatosplenomegaly, Pancytopenia, Portal hypertension, ...	ORPHA:98850
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the...	OMIM:600132
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, Recurrent f...	ORPHA:169090
Nathalie Syndrome	Cataract	OMIM:255990
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia	OMIM:614654
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Chromosome 16Q12 Duplication Syndrome	Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m...	OMIM:619649
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H...	OMIM:301078
Congenital Enterovirus Infection	Fever, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hypothermia, Neutropenia, Thromb...	ORPHA:292
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Optic disc pallor, Bone spi...	OMIM:613983
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age	OMIM:601820
Immunodeficiency 12	Recurrent viral infections, Complete or near-complete absence of specific antibody response to te...	OMIM:615468
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Recurrent viral infections, Severe B lymphocytopenia, Chronic mucocutaneous ...	OMIM:102700
Familial Thyroid Dyshormonogenesis	Hypothermia, Umbilical hernia	ORPHA:95716
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Bardet-Biedl Syndrome 9	Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p...	OMIM:615986
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col...	OMIM:610256
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Sepsis In Premature Infants	Temperature instability, Fever, Leukocytosis, Splenomegaly, Hypothermia, Decreased body weight, N...	ORPHA:90051
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin...	OMIM:612109
Cataract 16, Multiple Types	Posterior polar cataract, Developmental cataract, Lenticonus, Retinal dystrophy	OMIM:613763
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone...	OMIM:616469
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Complement Factor I Deficiency	Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Recurrent meningococcal d...	OMIM:610984
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Coats Disease	Leukocoria, Retinal telangiectasia, Exudative retinal detachment	OMIM:300216
Retinitis Pigmentosa 37	Cystoid macular degeneration, Pigmentary retinopathy, Nuclear cataract, Posterior subcapsular cat...	OMIM:611131
Cataract 47	Cataract, Microcornea	OMIM:612018
Stickler Syndrome Type 1	Abnormal vitreous humor morphology, Retinal detachment, Cataract	ORPHA:90653
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Agammaglob...	OMIM:619705
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract, Asteroid hyalosis, Retinal thinning	OMIM:132450
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio...	OMIM:152950
Achondrogenesis Type 2	Lens subluxation, Abnormal vitreous humor morphology, Retinal detachment, Cataract	ORPHA:93296
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Aniridia 1	Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Ectopia pu...	OMIM:106210
Sickle Cell Disease	Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell...	OMIM:603903
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia, Neutropenia	OMIM:616949
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Recurrent upper respiratory tract infections, Rec...	ORPHA:183675
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Neutropenia, Recurrent lower respiratory t...	OMIM:612541
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Retinopathy, Aplasia/Hypoplasia of the fovea, Iris coloboma...	ORPHA:2611
Srd5A3-Cdg	Optic atrophy, Cataract, Optic disc hypoplasia, Hypertrichosis, Coloboma, Rod-cone dystrophy	ORPHA:324737
Retinitis Pigmentosa 66	Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Recurrent respiratory infections, Leukocytosis, Sple...	ORPHA:3226
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
N-Acetylglutamate Synthase Deficiency	Hypothermia, Failure to thrive	OMIM:237310
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti...	ORPHA:231154
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypothermia, Thrombocytopenia, Small for gestational age, Normochromic anemia	OMIM:618775
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract, Retinal pigment epithelial mottling, Attenuatio...	OMIM:617547
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Retinal detachment, Optic nerve hypoplasia	OMIM:615181
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Recurrent infections, Neutropenia	OMIM:620443
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Nance-Horan Syndrome	Cataract, Microcornea, Retinal detachment	ORPHA:627
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Pigmentary retinopathy, Cataract, Posterior subcapsular cataract, Attenuation of r...	OMIM:300578
Severe Early-Childhood-Onset Retinal Dystrophy	Posterior subcapsular cataract, Posterior synechiae of the anterior chamber, Retinal pigment epit...	ORPHA:364055
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Low anterior hairline, Coloboma, Retinal detachment, Corneal opacity	OMIM:613153
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Anemia, Omphalocele, Increased body mass index	OMIM:614450
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Cataract, Rod-cone dystrophy, Subcapsular cataract	OMIM:612674
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Cataract	ORPHA:3173
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Reduced natural killer cell count, Enlarged platelet dense granules, Recurre...	OMIM:608233
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypothermia, Obesity, Overweight, Small for gestational age	ORPHA:26793
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Stickler Syndrome, Type Ii	Abnormal vitreous humor morphology, Retinal detachment, Cataract	OMIM:604841
Aniridia 3	Cataract, Aniridia	OMIM:617142
Pyomyositis	Sepsis, Leukocytosis, Recurrent infections, Sudden cardiac death, Recurrent cutaneous abscess for...	ORPHA:764
Meningococcal Meningitis	Fever, Hypothermia	ORPHA:33475
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m...	ORPHA:280921
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Stickler Syndrome, Type Iv	Cataract, Astigmatism, Chorioretinal degeneration, Rhegmatogenous retinal detachment, Degenerativ...	OMIM:614134
Sympathetic Ophthalmia	Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Alo...	ORPHA:79098
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Severe viral infection, Hemophagocytosis, Pulmonary hemorrhage, Hepatospleno...	OMIM:619644
3-Hydroxy-3-Methylglutaric Aciduria	Fever, Leukopenia, Leukocytosis, Hypothermia, Weight loss, Thrombocytosis, Anemia	ORPHA:20
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,...	ORPHA:2968
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract, Choroideremia	OMIM:116600
Genetic Transient Congenital Hypothyroidism	Hypothermia, Umbilical hernia	ORPHA:226316
Menkes Disease	Hypothermia	OMIM:309400
Timothy Syndrome	Hypothermia	OMIM:601005
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cataract, Attenuation of retinal blood vessels, Retinal degeneration, Macular atrophy, Geographic...	OMIM:619260
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg...	ORPHA:99103
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract, Macular degeneration	OMIM:619780
Microphthalmia, Syndromic 5	Cataract, Microcornea, Coloboma, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Retinal det...	ORPHA:85194
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Bone spicu...	OMIM:609033
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cataract	OMIM:613730
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Neutropenia, Recurrent lower respir...	OMIM:300755
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ...	OMIM:268315
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Joubert Syndrome 9	Cataract, Astigmatism, Retinal dystrophy	OMIM:612285
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
Bardet-Biedl Syndrome 22	Obesity, Large for gestational age	OMIM:617119
Hypothyroidism Due To Tsh Receptor Mutations	Hypothermia, Umbilical hernia	ORPHA:90673
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Hypothermia, Failure to thrive, Thrombocytopenia	OMIM:251880
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Chronic infection, Palpitations, L...	ORPHA:86839
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma, Retinal dystrophy	ORPHA:139471
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Clouston Syndrome	Cataract, Alopecia, Sparse eyebrow, Fine hair, Alopecia totalis, Nail dystrophy, Sparse eyelashes...	OMIM:129500
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Dilated cardiomyopathy, Recurrent viral infect...	OMIM:242840
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy	OMIM:616562
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Nail dystrophy, Alopecia totalis	ORPHA:1366
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Hemophagocytic Syndrome Associated With An Infection	Invasive fungal infection, Severe viral infection, Hemophagocytosis, Invasive parasitic infection...	ORPHA:158048
Mirage Syndrome	Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Anemia, Thrombocytopenia, Re...	OMIM:617053
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA...	OMIM:617099
Whim Syndrome	Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Abnormal neutrophil mo...	ORPHA:51636
Isolated Thyroid-Stimulating Hormone Deficiency	Hypothermia, Failure to thrive, Umbilical hernia	ORPHA:90674
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity	ORPHA:329249
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, R...	ORPHA:221139
Phacoanaphylactic Uveitis	Anterior chamber flare grade 1+, Macular edema, Hypopyon, Posterior synechiae of the anterior cha...	ORPHA:209959
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Overgrowth, Large for gestational age, Inguinal hernia, Umbilical hernia	OMIM:618272
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-...	ORPHA:99104
Antiphospholipid Syndrome, Familial	Keratitis, Central retinal artery occlusion, Retinal vasculitis, Retinal detachment, Iritis, Vitr...	OMIM:107320
Combined Oxidative Phosphorylation Deficiency 37	Hypothermia, Failure to thrive	OMIM:618329
Staphylococcal Necrotizing Pneumonia	Hypotension, Sepsis, Shock, Leukopenia, Leukocytosis, Severe infection, Neutrophilia	ORPHA:36238
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Refsum Disease, Classic	Cataract, Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Recurrent viral infections, Aplastic anemia, Seps...	ORPHA:811
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections, Myocar...	ORPHA:60033
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Umbilical hernia, Large for gestational age, Overgrowth, Omphalocele, Small for gestational age	ORPHA:254534
Relapsing Fever	Epistaxis, Hypotension, Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Tachyca...	ORPHA:91547
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Onychotrichodysplasia And Neutropenia	Recurrent infections, Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Scarring alopeci...	OMIM:612843
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Leukocytosis, Spl...	OMIM:615895
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Multiple Sulfatase Deficiency	Optic atrophy, Cataract, Coarse hair, Thick eyebrow, Abnormality of retinal pigmentation, Corneal...	ORPHA:585
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Otodental Syndrome	Cataract, Microcornea, Retinal coloboma, Lens coloboma, Iris coloboma	ORPHA:2791
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Ifap Syndrome 2	Cataract, Atrichia, Keratitis, Nail dystrophy, Keratoconjunctivitis sicca, Sparse hair	OMIM:619016
Walker-Warburg Syndrome	Optic atrophy, Cataract, Microcornea, Abnormal optic nerve morphology, Retinal detachment, Cornea...	ORPHA:899
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Hypothermia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	ORPHA:79282
Carnitine-Acylcarnitine Translocase Deficiency	Hypothermia	ORPHA:159
Hereditary Mucoepithelial Dysplasia	Cataract, Alopecia, Fine hair, Sparse hair, Corneal dystrophy	ORPHA:1839
Knobloch Syndrome	Cataract, Macular degeneration, Ectopia lentis, Vitreoretinopathy, Abnormal hair morphology, Abno...	ORPHA:1571
Menkes Disease	Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Inguinal hernia, Hypothermia, Hernia	ORPHA:565
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Failure to thrive, Umbilical hernia, Large for gestational age, Neut...	OMIM:614520
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypothermia, Flexion contracture, Failure to thrive	ORPHA:17
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Dorsocervical fat pad	OMIM:615830
Adult-Onset Autosomal Dominant Leukodystrophy	Flexion contracture, Temperature instability, Hypothermia	ORPHA:99027
Hypothyroidism, Central, With Testicular Enlargement	Overweight	OMIM:300888
Dopamine Beta-Hydroxylase Deficiency	Anemia, Hypothermia	ORPHA:230
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Cerebral hemorrhage, Hepatosplenomegaly, Complete or near-comple...	OMIM:301081
Hypocomplementemic Urticarial Vasculitis	Recurrent bacterial infections, Meningitis, Splenomegaly, Small vessel vasculitis	ORPHA:36412
Coenzyme Q10 Deficiency, Primary, 2	Obesity, Overweight	OMIM:614651
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Dilated cardiomyopathy, Third degree atrioventricular block, Sepsis, ...	OMIM:619573
Neuroleptic Malignant Syndrome	Fever, Leukocytosis, Hypothermia, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Alexander Disease	Hypothermia, Failure to thrive	ORPHA:58
Incontinentia Pigmenti	Optic atrophy, Cataract, Alopecia, Keratitis, Coarse hair, Fine hair, Supernumerary nipple, Breas...	OMIM:308300
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Hypothermia, Failure to thrive	ORPHA:255210
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Hypothermia, Umbilical hernia	ORPHA:226307
Postinfectious Vasculitis	Recurrent mycobacterial infections, Invasive fungal infection, Severe viral infection, Cardiomyop...	ORPHA:48435
Pneumocystosis	Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Increased circulating antibody level...	ORPHA:723
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Amyloidosis, Finnish Type	Cataract, Optic neuropathy, Lattice corneal dystrophy	OMIM:105120
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent infection of the gastrointestinal tract, Leukocytosis, Recurrent urinary tract infections	ORPHA:51890
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Brain abscess, Liver abscess, Neutrophilia	ORPHA:54251
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Occipital Horn Syndrome	Atypical scarring of skin, Keloids, Inguinal hernia, Hypothermia, Hiatus hernia, Scarring, Femora...	ORPHA:198
Tbck-Related Intellectual Disability Syndrome	Hypothermia	ORPHA:488632
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Fine hair, Keratoconjunctivitis sicca, Sclerocornea, Sparse hair, Corneal ...	ORPHA:1806
Papillorenal Syndrome	Cataract, Macular degeneration, Lens luxation, Optic disc coloboma, Retinal coloboma, Chorioretin...	OMIM:120330
Sweet Syndrome	Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile...	ORPHA:3243
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight	ORPHA:589905
Congenital Analbuminemia	Obesity, Lipodystrophy, Small for gestational age, Increased circulating antibody level	ORPHA:86816
Werner Syndrome	Cataract, Alopecia of scalp, Retinal degeneration	OMIM:277700
Aromatic L-Amino Acid Decarboxylase Deficiency	Intermittent hypothermia, Temperature instability	OMIM:608643
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight	ORPHA:276608
Hereditary Sensory And Autonomic Neuropathy Type 4	Unexplained fevers, Atypical scarring of skin, Recurrent fever, Fasciitis, Corneal scarring, Absc...	ORPHA:642
Norrie Disease	Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor...	ORPHA:649
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Anal Fistula	Leukocytosis	ORPHA:228113
Hyper-Igd Syndrome	Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA ...	OMIM:260920
Hypothyroidism, Congenital, Nongoitrous, 2	Hypothermia, Umbilical hernia	OMIM:218700
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Fever, Lymphopenia, Abnormal lymphocyte morphology, Leukop...	ORPHA:99826
Glycogen Storage Disease Ib	Recurrent bacterial infections, Hypertension, Splenomegaly, Neutropenia	OMIM:232220
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Sarcoidosis	Fever, Leukopenia, Hypothermia, Increased T cell count, Scarring, Weight loss, Eosinophilia, Thro...	ORPHA:797
Ethylene Glycol Poisoning	Hypothermia	ORPHA:31826
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca...	ORPHA:637
Atelis Syndrome 2	Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloid vascular system	OMIM:620185
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antibody level, Spl...	OMIM:248500
Orthostatic Hypotension 1	Intermittent hypothermia	OMIM:223360
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Small for gestational age	OMIM:274300
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Fever, Obesity, Hypothermia	ORPHA:293987
Stromme Syndrome	Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Sclerocornea, Iris coloboma, ...	OMIM:243605
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Persistence of hemoglobin F, Umbilical hernia	OMIM:619769
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Neuroocular Syndrome 1	Cataract, Microcornea, Highly arched eyebrow, Peters anomaly, Long eyelashes, Thick eyebrow, Brit...	OMIM:619539
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Abdominal obesity	OMIM:615954
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ...	ORPHA:244
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Abnormal retinal vascular morphology, Retinal neovascularization, Retinal cotton w...	ORPHA:247691
Wilson Disease	Failure to thrive, Splenomegaly, Increased body weight, Weight loss, Thrombocytopenia, Anemia	ORPHA:905
Hennekam-Beemer Syndrome	Hypotension, Arrhythmia, Telangiectasia of the skin, Mastocytosis	ORPHA:2135
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Coloboma, Sclerocornea	OMIM:615877
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Cogan Syndrome	Aortic regurgitation, Vasculitis, Large vessel vasculitis, Leukocytosis, Thrombocytosis, Anemia	ORPHA:1467
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Telangiectasia of the skin	ORPHA:2176
Adult-Onset Still Disease	Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Anemia, Neutrophilia, Myocarditis, Peric...	ORPHA:829
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Microcytic anemi...	ORPHA:99843
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Epiretinal membrane, Lisch nodules, Juvenile posterior ...	OMIM:101000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Pulmonary venous hypertension, Anemia, Recurrent bacterial infections, Abnormal myeloi...	ORPHA:79259
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Posterior subcapsular cataract, Cataract, Cerulean cataract, Anterior cortical cat...	ORPHA:67036
Generalized Pustular Psoriasis	Fever, Lymphopenia, Obesity, Leukocytosis, Overweight	ORPHA:247353
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Hypothermia, Uterine prolapse	ORPHA:438213
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight	OMIM:300860
Smith-Magenis Syndrome	Increased body weight	OMIM:182290
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Cataract, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Retinal at...	OMIM:253280
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Elbow flexion contracture, Decreased circulating antibody level,...	ORPHA:3132
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Dorsocervical fat pad, Abdominal obesity	ORPHA:189427
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Neutrophilia, Meningitis, Pericarditis	OMIM:249100
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Increased body weight, Large for gestational age	ORPHA:263455
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth...	ORPHA:99827
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient isc...	ORPHA:3260
Microphthalmia, Syndromic 2	Microcornea, Thick eyebrow, Laterally curved eyebrow, Retinal detachment, Remnants of the hyaloid...	OMIM:300166
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Increased circulating antibody level, Anemia, T...	ORPHA:470
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:147060
Insulinoma	Increased body weight	ORPHA:97279
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Yellow Fever	Neutrophilia, Opportunistic infection, Shock, Reduced left ventricular ejection fraction, Leukocy...	ORPHA:99829
Magel2-Related Prader-Willi-Like Syndrome	Temperature instability, Failure to thrive, Increased body weight, Abdominal obesity, Flexion con...	ORPHA:398069
Joubert Syndrome 39	Overweight, Joint contracture of the 5th finger	OMIM:619562
Sotos Syndrome	Increased body weight, Tall stature, Overgrowth	OMIM:117550
Cystic Fibrosis	Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci...	ORPHA:586
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Splenomegaly, Increased body weight, Abnormal erythrocyte enzyme concentration...	ORPHA:264580
Holoprosencephaly 2	Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Cushing Disease	Lymphopenia, Dorsocervical fat pad, Leukocytosis, Increased body weight, Truncal obesity, Abdomin...	ORPHA:96253
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Leukopenia, Decreased body weight, Increased body weight, Weight loss...	ORPHA:2298
Hellp Syndrome	Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Thrombocytopenia, Dec...	ORPHA:244242
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Increased body weight, Anemia, Splenomegaly	ORPHA:79240
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections	ORPHA:2273
Cushing Syndrome Due To Ectopic Acth Secretion	Lymphopenia, Dorsocervical fat pad, Leukocytosis, Increased body weight, Weight loss, Truncal obe...	ORPHA:99889
Carney Complex	Increased body weight, Tall stature, Dorsocervical fat pad, Abdominal obesity	ORPHA:1359
Pmm2-Cdg	Failure to thrive, Fever, Multiple joint contractures, Abnormal subcutaneous fat tissue distribut...	ORPHA:79318

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.

There is no histopathology data for Plac8

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 Plac8.

No publications found that use IMPC mice or data for Plac8.

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MGI Allele	Allele Type	Produced
Plac8^{tm44611(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Plac8^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Plac8^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Plac8^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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: Plac8 MGI:2445289

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Electrocardiogram (ECG)

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Plac8 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data