Gene Summary

Name:
placenta-specific 8
Synonyms:
C15,  D5Wsu111e,  onzin

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
abnormal lens morphology Plac8tm1b(EUCOMM)Hmgu HOM Early adult 3.84×10-11
cataract Plac8tm1b(EUCOMM)Hmgu HOM Early adult 2.59×10-09
abnormal coat appearance Plac8tm1b(EUCOMM)Hmgu HOM Early adult 3.07×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Select physiological systems to view:
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.

Immunophenotyping

Panel B FCS file(s)

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

24 Images

Immunophenotyping

Panel A FCS file(s)

3 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Uncombable Hair Syndrome 2
Juvenile cataract, Pili canaliculi, Uncombable hair OMIM:617251
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis OMIM:619549
Trichomegaly
Long eyelashes, Cataract OMIM:190330
Aniridia 3
Cataract OMIM:617142
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Recurren... OMIM:613502
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... OMIM:614372
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Cataract 7
Developmental cataract OMIM:115660
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... OMIM:300988
Immunodeficiency 84
Recurrent bacterial infections, B lymphocytopenia, Splenomegaly, Perianal abscess, Persistent EBV... OMIM:619437
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:243700
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... OMIM:608957
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Nathalie Syndrome
Cataract ORPHA:2663
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Galactosemia Iv
Cataract OMIM:618881
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency 51
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... OMIM:613953
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Recurrent respiratory... OMIM:300310
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... OMIM:607676
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Whim Syndrome 2
Chronic neutropenia OMIM:619407
X-Linked Retinoschisis
Cataract ORPHA:792
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Decreased cir... OMIM:601495
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia OMIM:602079
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Galactosemia Ii
Cataract OMIM:230200
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circul... OMIM:616873
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Decreased circulating IgG level, Decreased circulati... OMIM:193670
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Cataract 42
Developmental cataract OMIM:115900
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... OMIM:615285
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract, Generalized hypertrichosis ORPHA:1383
Cataract 47
Microcornea, Cataract OMIM:612018
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... ORPHA:170
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Ficolin 3 Deficiency
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... OMIM:613860
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... OMIM:608184
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... OMIM:233710
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil... ORPHA:572
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent protozoan infections, ... OMIM:209920
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Neutrophilia, Bronchiolitis OMIM:266265
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, ... OMIM:267500
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Aniridia 2
Aniridia, Cataract OMIM:617141
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Catarac... ORPHA:1067
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Recurrent Serratia marcescens infections, Splenomegaly, Impaired ox... OMIM:233690
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Vasculitis in the skin, Histoplasmosis, Dissem... ORPHA:319552
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Decreased proportion of naive T cells, Recurrent opportun... ORPHA:276
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Obesity, Childhood-onset truncal obesity ORPHA:71529
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Proximal Myotonic Myopathy
Cataract ORPHA:606
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Sepsis, Severe varicella zoster infection, Neutropenia, Leukopenia, Partial ab... OMIM:618986
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly OMIM:606445
Nathalie Syndrome
Cataract OMIM:255990
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Abnormal B cell count, Decreased circulating IgA level, Recurrent... ORPHA:331206
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:240500
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... OMIM:308240
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Primary Erythromelalgia
Leukemia, Hypothermia ORPHA:90026
Dysequilibrium Syndrome
Cataract ORPHA:1766
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Autoimmune thrombocytopen... OMIM:614470
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity, Joint contracture of the hand, Camptodactyly OMIM:264010
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Cataract, Slow-growing hair, Patchy alopeci... ORPHA:573
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Leukocytosis, Sepsis, Epistaxis, Anemia, Splenomegaly, Hepatosple... OMIM:612840
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Necrobiosis Lipoidica
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology ORPHA:542592
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 43
Subcapsular cataract OMIM:616279
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Cataract 11, Multiple Types
Cataract OMIM:610623
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Decreased circulating antibody level,... OMIM:616005
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Chronic infection, Neutropenia, Normocytic anemia, Megaloblastic er... ORPHA:75564
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans OMIM:154800
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... OMIM:613179
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Idiopathic Congenital Hypothyroidism
Umbilical hernia, Hypothermia ORPHA:95717
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Complete or near-... OMIM:613496
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Recurrent fungal infections, Hypoplasia of the... OMIM:603554
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal abscess, Hepatosplenomegaly,... OMIM:618935
Thymic Aplasia
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... ORPHA:83471
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Retinitis Pigmentosa 84
Cataract OMIM:618220
Cataract 21, Multiple Types
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma OMIM:610202
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Immunodeficiency 69
Thrombocytosis, Leukocytosis, BCGosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Recurrent viral infections, Recurrent infections, I... ORPHA:169154
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... OMIM:617475
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... ORPHA:331235
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Umbilical hernia, Large for gestational age ORPHA:226313
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Leukocyte Adhesion Deficiency, Type I
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Rectal abscess... OMIM:116920
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating IgA level, Impaired me... OMIM:308230
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Cataract ORPHA:85288
Immune Deficiency Disease
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating total IgM OMIM:242850
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Permanent Congenital Hypothyroidism
Umbilical hernia, Hypothermia ORPHA:226292
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Abdominal obesity OMIM:615980
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgita... OMIM:603585
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... OMIM:147060
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Giant platelets, Thrombocytop... OMIM:605249
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Chronic oral candidiasis, Recurr... OMIM:150550
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Pellagra-Like Syndrome
Cataract OMIM:260650
Halothane Hepatitis
Obesity, Eosinophilia, Fever OMIM:234350
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Mitral regurgitatio... OMIM:612541
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating IgA level, Recurrent fun... OMIM:102700
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Increased adipose tissue, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Increased adipose tissue, Childhood-onset truncal obesity ORPHA:71526
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Chédiak-Higashi Syndrome
Recurrent bacterial infections, Abnormal natural killer cell morphology, Neutropenia, Thrombocyto... ORPHA:167
Leber Congenital Amaurosis 8
Cataract, Keratoconus OMIM:613835
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Hypothermia, Abnormality of temperature regulation, Fever, Obesity, Elbow flexio... OMIM:618493
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytope... ORPHA:88
Narcolepsy Type 1
Obesity ORPHA:2073
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Immunodeficiency 10
Recurrent bacterial infections, Thrombocytopenia, Recurrent infections, Autoimmune hemolytic anemia OMIM:612783
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Recurrent bacterial infections, Severe varicella zoster infe... OMIM:606367
Macrosomia Adiposa Congenita
Obesity, Eosinophilia, Large for gestational age OMIM:248100
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia OMIM:610006
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Summitt Syndrome
Obesity OMIM:272350
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypothermia OMIM:245400
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... ORPHA:169090
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly ORPHA:98848
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... OMIM:613470
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Menkes Disease
Hypothermia OMIM:309400
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Congenital Varicella Syndrome
Cataract ORPHA:291
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Hypothermia, Anemia, Fever, Abnormal macrophage morphology... ORPHA:292
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Immunodeficiency 23
Severe varicella zoster infection, Neutropenia, Abscess, Increased circulating IgG level, Vasculi... OMIM:615816
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Familial Thyroid Dyshormonogenesis
Umbilical hernia, Hypothermia ORPHA:95716
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair, Cataract OMIM:616395
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Retinitis Pigmentosa 4
Cataract OMIM:613731
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis, Cataract ORPHA:1366
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... OMIM:307200
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Recurrent infections in infancy and early ch... OMIM:302060
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent bacterial infections, Sepsis, Decreased specific pneumococcal antibody level, Pulmonary... ORPHA:183675
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy ORPHA:293621
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti... OMIM:300291
Morm Syndrome
Cataract ORPHA:75858
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Cerebrooculofacioskeletal Syndrome 2
Developmental cataract, Sparse hair, Cataract OMIM:610756
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Xeroderma Pigmentosum, Complementation Group G
Cataract OMIM:278780
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Arrhythmia OMIM:616949
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Bone marrow hypocellularity, Splenomegaly,... ORPHA:3226
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis OMIM:300455
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Thrombocytopenia, Hypothermia, Splenomegaly OMIM:251880
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Syncope, Normocytic anemia, Normochromic anemia, Chroni... ORPHA:98849
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Retinitis Pigmentosa 2
Cataract OMIM:312600
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Sickle Cell Anemia
Recurrent bacterial infections, Leukocytosis, Hypertension, Splenomegaly, Increased red cell sick... OMIM:603903
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T ... ORPHA:231154
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Hypothermia, Small for gestational age OMIM:618775
Retinitis Pigmentosa 37
Cataract OMIM:611131
Cataract 24
Anterior polar cataract OMIM:601202
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Leukocyte Adhesion Deficiency
Recurrent bacterial infections, Leukocytosis, Thrombocytosis, Sepsis, BCGosis, Polycythemia, Recu... ORPHA:2968
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Anemia, Increased body weight OMIM:614450
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Neutropenia, Enlarged platelet dense granules, Reduced natural ki... OMIM:608233
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Cataract, Posterior embryotoxon, Iris coloboma ORPHA:1473
Complement Factor I Deficiency
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... OMIM:610984
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma OMIM:212550
Retinitis Pigmentosa 9
Cataract OMIM:180104
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Ifap Syndrome 2
Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Keratitis, Cataract, Sparse hair OMIM:619016
X-Linked Lymphoproliferative Disease
Myocarditis, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dys... ORPHA:2442
Clouston Syndrome
Fine hair, Sparse eyelashes, Absent pubic hair, Brittle hair, Nail dystrophy, Alopecia, Alopecia ... OMIM:129500
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Recurrent infections, Lymphocytosis, Vasculitis, Thrombocytopenia OMIM:617718
Vogt-Koyanagi-Harada Disease
Poliosis, Abnormal eyebrow morphology, Cataract, Sparse scalp hair, Abnormal eyelash morphology, ... ORPHA:3437
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, Cataract, Spar... OMIM:612843
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Immunodeficiency 91 And Hyperinflammation
BCGosis, Monocytosis, Pulmonary hemorrhage, Recurrent lower respiratory tract infections, Neutrop... OMIM:619644
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Recurrent infections, Thrombocytopenia, Folate-responsive megaloblastic ... OMIM:229050
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Vici Syndrome
Dilated cardiomyopathy, Recurrent bacterial infections, Recurrent fungal infections, Decreased ci... OMIM:242840
Pyomyositis
Leukocytosis, Sepsis, Recurrent cutaneous abscess formation, Recurrent infections, Sudden cardiac... ORPHA:764
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Obesity, Hypothermia, Small for gestational age, Overweight ORPHA:26793
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Central Precocious Puberty
Obesity, Overgrowth, Increased body weight ORPHA:759
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract OMIM:615704
Congenital Hypothyroidism
Umbilical hernia, Hypothermia ORPHA:442
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Poikiloderma With Neutropenia
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Recurrent sinusitis OMIM:604173
Meningococcal Meningitis
Hypothermia, Fever ORPHA:33475
Genetic Transient Congenital Hypothyroidism
Umbilical hernia, Hypothermia ORPHA:226316
Autism, Susceptibility To, 18
Overweight, Tall stature OMIM:615032
Immunodeficiency 27B
Recurrent mycobacterial infections OMIM:615978
Schnitzler Syndrome
Leukocytosis, Anemia, Splenomegaly, Vasculitis, Increased circulating IgM level ORPHA:37748
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Leukopenia, Hypothermia, Weight loss, Anemia, Fever ORPHA:20
Retinal Venous Beading
Retinal neovascularization, Vitreous hemorrhage, Neutropenia OMIM:180080
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Corneal dystrophy, Cataract, Sparse hair ORPHA:1839
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Hemophagocytic Syndrome Associated With An Infection
Chronic active Epstein-Barr virus infection, Neutropenia, Anemia, Splenomegaly, Severe cytomegalo... ORPHA:158048
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Hyperostosis Frontalis Interna
Obesity OMIM:144800
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Hypothyroidism Due To Tsh Receptor Mutations
Umbilical hernia, Hypothermia ORPHA:90673
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Achromatopsia 3
Cataract OMIM:262300
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Cataract, Lens subluxation ORPHA:171844
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Recurrent infections OMIM:617056
Whim Syndrome
Recurrent bacterial infections, Sepsis, Neutropenia, Decreased circulating antibody level, Mening... ORPHA:51636
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Recurrent bacterial infections, Systolic... ORPHA:99104
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Refractory Anemia With Excess Blasts
Leukocytosis, Chronic infection, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volu... ORPHA:86839
Slc35A1-Cdg
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia ORPHA:238459
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia,... ORPHA:829
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Umbilical hernia, Hypothermia ORPHA:90674
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Decreased circulating IgG level, Neutropenia OMIM:600351
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating total IgA, Decreased spe... ORPHA:221139
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... OMIM:209950
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Sepsis, Recurrent bacterial infections, Neutropenia, Norm... ORPHA:811
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Atrichia, Corneal opacity, Cataract, Congenital abnormal hair pattern ORPHA:1867
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Fine hair, Opacification of the corneal stroma, Sparse eyelashes, Hypoplastic nipples, Distichias... OMIM:211370
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia, Recurrent infections OMIM:258360
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Intracranial hemorrhage, Leukopenia, Anemia, Recurrent ur... OMIM:617053
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Abnormal hair morphology, Cataract ORPHA:414
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Abcd Syndrome
Large for gestational age OMIM:600501
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypothermia OMIM:618329
Staphylococcal Necrotizing Pneumonia
Shock, Leukocytosis, Sepsis, Leukopenia, Neutrophilia, Severe infection, Hypotension ORPHA:36238
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Overgrowth, Small for gestational age, Large for gestational age, Umbilical hernia ORPHA:254534
Cinca Syndrome
Leukocytosis, Anemia, Meningitis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Mastocytosis
Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Splenomegaly, Gastrointestinal hemo... ORPHA:98292
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Relapsing Fever
Leukocytosis, Leukopenia, Epistaxis, Anemia, Tachycardia, Neutrophilia, Thrombocytopenia, Hypoten... ORPHA:91547
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea, Sp... ORPHA:1806
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Immunodeficiency 47
Recurrent bacterial infections, Normocytic anemia, Decreased circulating total IgA, Leukopenia, D... OMIM:300972
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Menkes Disease
Chondrocalcinosis, Hypothermia, Hernia, Inguinal hernia, Atypical scarring of skin, Umbilical hernia ORPHA:565
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Summitt Syndrome
Obesity, Camptodactyly of finger, Tall stature ORPHA:3210
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Hypothermia, Failure to thrive, Megaloblastic anemia, Thrombocytopenia ORPHA:79282
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Idiopathic Bronchiectasis
Myocardial infarction, Recurrent Haemophilus influenzae infections, Recurrent lower respiratory t... ORPHA:60033
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Flexion contracture, Hypothermia ORPHA:99027
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Pigmented Nodular Adrenocortical Disease, Primary, 4
Dorsocervical fat pad, Increased body weight OMIM:615830
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia ORPHA:159
Nephronophthisis 15
Obesity OMIM:614845
Dopamine Beta-Hydroxylase Deficiency
Anemia, Hypothermia ORPHA:230
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Bone marrow hypocellularity, Anemia, Large for gestational age, T... OMIM:614520
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Meningitis, Recurrent bacterial infections, Splenomegaly ORPHA:36412
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Long eyelashes, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Sepsis, Recurrent bact... OMIM:619573
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Hypothermia, Fever, Thrombocytopenia ORPHA:94093
Postinfectious Vasculitis
Hypertension, Persistent human papillomavirus infection, Severe varicella zoster infection, Incre... ORPHA:48435
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Necrotizing Enterocolitis
Shock, Leukocytosis, Neutropenia, Bradycardia, Neonatal sepsis, Thrombocytopenia, Hypotension ORPHA:391673
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Hypothermia, Fever ORPHA:255210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Flexion contracture, Hypothermia ORPHA:17
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent fever, Unexplained fevers, Hypothermia, Corneal scarring, Abscess, Fasciitis, Anemia, A... ORPHA:642
Alexander Disease
Failure to thrive, Hypothermia ORPHA:58
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460