Gene Summary

Name:
purinergic receptor P2X, ligand-gated ion channel, 7
Synonyms:
P2X(7),  P2X7R,  P2X7 receptor

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 P2rx7tm1b(EUCOMM)Wtsi HOM   Early adult 9.63×10-05
decreased circulating glycerol level P2rx7tm1a(EUCOMM)Wtsi HOM   Early adult 2.41×10-05
cataract P2rx7tm1b(EUCOMM)Wtsi HOM   Early adult 5.43×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Chest bone N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
cranium
diaphragm 0.0%
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Human diseases caused by P2rx7 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 P2rx7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
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
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
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Aniridia 3
Cataract OMIM:617142
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Cataract 7
Developmental cataract OMIM:115660
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Galactosemia Iv
Cataract OMIM:618881
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nathalie Syndrome
Cataract ORPHA:2663
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Narcolepsy 3
Narcolepsy OMIM:609039
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Narcolepsy 7
Narcolepsy OMIM:614250
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Narcolepsy 1
Narcolepsy OMIM:161400
Cataract 47
Cataract, Microcornea OMIM:612018
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 42
Developmental cataract OMIM:115900
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... ORPHA:50811
X-Linked Retinoschisis
Cataract ORPHA:792
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Slender long bone, Hypoplastic pelvis, Hip dislocation, Limitation of joint... ORPHA:2840
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart... OMIM:619795
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Dermoids Of Cornea
Corneal opacity OMIM:304730
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly ORPHA:98848
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Limitation of joint mobility, Cachexia, Camptodactyly of finger, Slender long bone, Abnormal epip... ORPHA:2774
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Slender long bone, Reduced bone mineral density ORPHA:262
Pick Disease Of Brain
Apathy, Emotional blunting, Polyphagia, Diminished motivation, Irritability OMIM:172700
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Decreased body weight, Adducted thumb, Flared metaphysis, Camptodactyly o... OMIM:610758
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone ORPHA:1506
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 41
Nuclear cataract OMIM:116400
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Camptodactyly Syndrome, Guadalajara, Type Ii
Talipes equinovarus, Osteopenia, Camptodactyly of finger, Brachydactyly, Slender long bone, Short... OMIM:211920
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Nathalie Syndrome
Cataract OMIM:255990
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Three M Syndrome 3
Clinodactyly of the 5th finger, Decreased body weight, Small for gestational age, Slender long bo... OMIM:614205
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... ORPHA:457395
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Slender long bone, Abnormal cortical bone morp... ORPHA:1486
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Distal symphalangis... OMIM:210720
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Decreased calvarial ossification, Sle... OMIM:259420
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:613763
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cataract 11, Multiple Types
Cataract OMIM:610623
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Retinitis Pigmentosa 84
Cataract OMIM:618220
Dysequilibrium Syndrome
Cataract ORPHA:1766
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W
Hammertoe, Slender long bone ORPHA:488333
Cataract 30, Multiple Types
Diffuse nuclear cataract, Pulverulent cataract, Posterior polar cataract OMIM:116300
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Three M Syndrome 1
Clinodactyly of the 5th finger, Small for gestational age, Short 5th finger, Slender long bone, S... OMIM:273750
Gracile Bone Dysplasia
Failure to thrive, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen, Decre... OMIM:602361
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea OMIM:610202
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... OMIM:608154
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Marshall-Smith Syndrome
Failure to thrive, Reduced bone mineral density, Craniosynostosis, Slender long bone, Increased s... ORPHA:561
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Edict Syndrome
Microcornea, Astigmatism, Hypoplasia of the iris, Keratoconus, Developmental cataract OMIM:614303
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Aggressive behavior ORPHA:329249
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Tibial bowing, Radial bowing, Wide anterior fontanel, Type 1 collagen overmo... OMIM:610915
Kenny-Caffey Syndrome, Type 1
Small hand, Anemia, Slender long bone, Short foot, Calvarial osteosclerosis, Short palm, Decrease... OMIM:244460
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Spinocerebellar Ataxia-Dysmorphism Syndrome
Spina bifida occulta, Joint hyperflexibility, Slender long bone, Reduced bone mineral density ORPHA:1185
Premature Aging Syndrome, Penttinen Type
Osteolytic defects of the phalanges of the hand, Osteopenia, Brachydactyly, Slender long bone OMIM:601812
Frontotemporal Dementia
Diminished motivation, Polyphagia, Apathy, Irritability OMIM:600274
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Failure to thrive, Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Hypopl... OMIM:602613
Squalene Synthase Deficiency
2-3 toe syndactyly, Slender long bone, Elbow flexion contracture, Knee flexion contracture, Failu... OMIM:618156
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract OMIM:246000
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Weill-Marchesani Syndrome 4
Phakodonesis, Iridodonesis, Ectopia lentis OMIM:613195
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Abnormal bone ossification, Triangular shaped distal phalanges of... ORPHA:73230
Pellagra-Like Syndrome
Cataract OMIM:260650
Retinitis Pigmentosa 40
Cataract OMIM:613801
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
3M Syndrome
Clinodactyly of the 5th finger, Congenital hip dislocation, Micromelia, Hypoplastic pubic bone, S... ORPHA:2616
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Genu valgum, Hip subluxation, Short long bone, ... OMIM:271640
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Splenomegaly, Limited elbow extension, Slender long bone, Campto... OMIM:613385
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Three M Syndrome 2
Small for gestational age, Short 5th finger, Slender long bone, Prominent calcaneus, Clinodactyly OMIM:612921
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Cataract 24
Anterior polar cataract OMIM:601202
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Meier-Gorlin Syndrome 2
Failure to thrive, Tracheomalacia, Slender long bone, Camptodactyly, Patellar aplasia, Joint hype... OMIM:613800
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Meier-Gorlin Syndrome 5
Failure to thrive, Irregular femoral epiphysis, Hypoplasia of the capital femoral epiphysis, Slen... OMIM:613805
Van Den Ende-Gupta Syndrome
Craniosynostosis, Femoral bowing, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Lon... OMIM:600920
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Metaphyseal Chondrodysplasia, Schmid Type
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... OMIM:156500
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Decreased ... OMIM:183849
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Kahrizi Syndrome
Iris coloboma, Cataract OMIM:612713
Meier-Gorlin Syndrome 4
Failure to thrive, Patellar aplasia, Slender long bone OMIM:613804
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal bone ossification, Eunuchoid habitus, Arachnodactyly, Osteopenia, Thin metatarsal cortic... ORPHA:2463
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Meier-Gorlin Syndrome 1
Failure to thrive, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture of the ... OMIM:224690
Andersen Cardiodysrhythmic Periodic Paralysis
Clinodactyly of the 5th finger, Small hand, Brachydactyly, Short phalanx of finger, Slender long ... OMIM:170390
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Congenital Varicella Syndrome
Cataract ORPHA:291
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Slender long bone ORPHA:96181
Cataract 2, Multiple Types
Developmental cataract, Nuclear cataract, Microcornea OMIM:604307
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Alazami Syndrome
Slender long bone ORPHA:319671
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Cataract ORPHA:171860
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Malan Overgrowth Syndrome
Slender long bone ORPHA:420179
Retinitis Pigmentosa 4
Cataract OMIM:613731
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Osteopenia, Slender long bone, Proximal placement of thumb, Coxa valga OMIM:212066
Meier-Gorlin Syndrome 3
Coxa vara, Failure to thrive, Talipes equinovarus, Tracheomalacia, Aplasia/Hypoplasia of the pate... OMIM:613803
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Aggressive behavior, Self-mutilation OMIM:616521
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Dislocation of the femoral head, Hip contracture, Cone-shaped epiphyses of the phalanges of the h... OMIM:210730
Macrosomia Adiposa Congenita
Polyphagia OMIM:248100
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract OMIM:120433
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... ORPHA:2442
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Cerebellofaciodental Syndrome
Clinodactyly of the 5th finger, Shortening of all distal phalanges of the fingers, Tapered finger... OMIM:616202
Morm Syndrome
Cataract ORPHA:75858
Leptin Receptor Deficiency
Polyphagia, Aggressive behavior, Abnormal eating behavior OMIM:614963
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Slender long bone, Joint hypermobility OMIM:618590
Early-Onset Schizophrenia
Abnormal emotion/affect behavior, Anxiety, Polyphagia, Suicidal ideation, Anhedonia, Emotional la... ORPHA:96369
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Craniosynostosis, Osteopenia, Decreased circulating total IgM, S... ORPHA:369837
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Faciocardiomelic Syndrome
Osteopenia, Polydactyly, Slender long bone, Thin bony cortex, Large for gestational age, Hypoplas... OMIM:612731
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Retinitis Pigmentosa 9
Cataract OMIM:180104
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Retinitis Pigmentosa 37
Cataract OMIM:611131
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Marshall-Smith Syndrome
Short distal phalanx of finger, Coxa vara, Decreased hip abduction, Clinodactyly of the 5th finge... OMIM:602535
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... OMIM:608728
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... ORPHA:93323
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Iris coloboma, Cataract OMIM:212550
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Osteogenesis Imperfecta
Abnormality of femur morphology, Femoral bowing, Osteopenia, Micromelia, Genu valgum, Rhizomelia,... ORPHA:666
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma ORPHA:1473
Leptin Deficiency Or Dysfunction
Polyphagia, Abnormal eating behavior OMIM:614962
Cahmr Syndrome
Lamellar cataract OMIM:211770
Ear-Patella-Short Stature Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Craniosynostosis, Camptodactyly of finger, Sle... ORPHA:2554
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Seckel Syndrome 10
Elevated hemoglobin A1c, Metaphyseal widening, Cone-shaped epiphysis, Slender long bone OMIM:617253
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... OMIM:600081
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... OMIM:114000
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Huntington Disease
Apathy, Irritability, Anxiety, Polyphagia, Suicidal ideation, Aggressive behavior, Choking episod... ORPHA:399
Achromatopsia 3
Cataract OMIM:262300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Hallermann-Streiff Syndrome
Tracheomalacia, Small for gestational age, Metaphyseal widening, Slender long bone, Decreased num... OMIM:234100
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Mastocytosis
Chronic leukemia, Acute leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Cerebellar-Facial-Dental Syndrome
Foot joint contracture, Failure to thrive, Slender long bone, Tapered finger ORPHA:444072
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal... ORPHA:167
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Polyphagia ORPHA:411515
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia ORPHA:71529
Fetal Akinesia Deformation Sequence 1
Ulnar deviation of the hand, Talipes equinovarus, Elbow ankylosis, Small for gestational age, Cam... OMIM:208150
Graves Disease, Susceptibility To, 1
Polyphagia, Irritability OMIM:275000
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Lens subluxation, Cataract OMIM:216820
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Obesity Due To Sim1 Deficiency
Polyphagia ORPHA:369873
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia OMIM:609734
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... OMIM:307800
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Talipes equinovarus, Flexion contracture, Short femur, Small for gestational a... OMIM:264090
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Wrinkly Skin Syndrome
Coxa vara, Wide anterior fontanel, Failure to thrive, Talipes equinovarus, Osteopenia, Congenital... OMIM:278250
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Neurofibromatosis Type 1
Joint stiffness, Recurrent fractures, Chronic myelogenous leukemia, Abnormal hip bone morphology,... ORPHA:636
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... OMIM:613470
Cataract 49
Posterior cortical cataract OMIM:619593
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Polyphagia, Emotional lability ORPHA:179494
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Absent thumb, Arachnodactyly, Slender long bone, Sagittal cranio... ORPHA:500150
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract OMIM:601794
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome
Anxiety, Polyphagia, Aggressive behavior, Emotional lability, Low frustration tolerance OMIM:612469
2Q23.1 Microdeletion Syndrome
Polyphagia, Self-injurious behavior ORPHA:228402
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Body Mass Index Quantitative Trait Locus 19
Polyphagia OMIM:617885
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Osteopenia, Abnormal femor... ORPHA:536471
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
6Q16 Microdeletion Syndrome
Polyphagia ORPHA:171829
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Recurrent fractures, Talipes equinovarus, Slender long bones with na... ORPHA:536467
Schaaf-Yang Syndrome
Polyphagia, Skin-picking OMIM:615547
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia ORPHA:276556
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Luscan-Lumish Syndrome
Polyphagia, Anxiety, Aggressive behavior OMIM:616831
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Temple Syndrome
Polyphagia ORPHA:254516
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia ORPHA:276575
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Short femur, Fem... OMIM:211350
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia ORPHA:276580
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Polyphagia, Apathy OMIM:607485
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia ORPHA:324575
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Cebalid Syndrome
Polyphagia OMIM:618774
Insulinoma
Polyphagia, Anxiety ORPHA:97279
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Perianal abscess, Granu... OMIM:618935
Martsolf Syndrome 1
Short toe, Talipes equinovarus, Slender ulna, Finger joint hypermobility, Tracheomalacia, Avascul... OMIM:212720
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Polyphagia ORPHA:66628
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Irritability, Emotional lability ORPHA:525731
Man1B1-Cdg
Polyphagia ORPHA:397941
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... ORPHA:91495
Hypotonia-Cystinuria Syndrome
Polyphagia OMIM:606407
Trisomy 18P
Polyphagia ORPHA:1715
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Short proximal phalanx of... ORPHA:3472
Angelman Syndrome
Happy demeanor, Self-injurious behavior, Anxiety, Polyphagia, Aggressive behavior, Dysphagia ORPHA:72
Oculoauricular Syndrome
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... OMIM:612109
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Neurotrophic Keratopathy
Allodynia, Anterior uveitis ORPHA:137596
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Abnormality of interleukin secretion, Increased serum interf... ORPHA:542323
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Intellectual Developmental Disorder, Autosomal Dominant 1
Polyphagia, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:156200
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Emotional lability, Polyphagia, Aggressive behavior, Self-mutilation ORPHA:251028
Craniosynostosis With Ocular Abnormalities And Hallucal Defects
Cataract, Microcornea OMIM:608279
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Bulimia, Self-injurious behavior, Skin-picking ORPHA:98754
Secondary Short Bowel Syndrome
Polyphagia ORPHA:95427
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Bulimia, Self-injurious behavior, Skin-picking ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Bulimia, Self-injurious behavior, Skin-picking ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Bulimia, Self-injurious behavior, Skin-picking ORPHA:177901
Trigeminal Neuralgia
Allodynia ORPHA:221091
African Trypanosomiasis
Narcolepsy ORPHA:3385
Sim1-Related Prader-Willi-Like Syndrome
Polyphagia, Skin-picking ORPHA:398079
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst OMIM:233710
Prader-Willi-Like Syndrome
Polyphagia, Bulimia, Self-injurious behavior, Skin-picking ORPHA:398073
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Impaired oxidative burst OMIM:233690
7Q11.23 Microduplication Syndrome
Polyphagia, Anxiety, Self-injurious behavior, Aggressive behavior ORPHA:96121
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia ORPHA:251004
Wrinkly Skin Syndrome
Coxa vara, Failure to thrive, Slender long bones with narrow diaphyses, Generalized joint laxity,... ORPHA:2834
Gangliocytoma
Polyphagia ORPHA:251937
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia, Skin-picking ORPHA:398069
Prader-Willi Syndrome
Polyphagia, Self-injurious behavior OMIM:176270
Adnp Syndrome
Polyphagia, Anxiety, Aggressive behavior, Oral-pharyngeal dysphagia ORPHA:404448
Pseudohypoparathyroidism Type 1C
Polyphagia, Anxiety, Irritability ORPHA:79444
Pseudohypoparathyroidism Type 1A
Polyphagia, Anxiety, Abnormal platelet function, Irritability ORPHA:79443
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Granuloma, Liver abscess OMIM:306400
Weaver Syndrome
Polyphagia OMIM:277590
Benign Schwannoma
Allodynia ORPHA:252164
Prader-Willi Syndrome
Polyphagia ORPHA:739
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis,... ORPHA:2968
Craniopharyngioma
Polyphagia ORPHA:54595
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
1P36 Deletion Syndrome
Dysphagia, Polyphagia, Self-injurious behavior ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal
Dysphagia, Polyphagia, Aggressive behavior, Self-mutilation OMIM:607872
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia OMIM:269700
Alström Syndrome
Polyphagia ORPHA:64

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 P2rx7

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 P2rx7.

There are 12 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
P2X7 Receptor-Related Genetic Mouse Models - Tools for Translational Research in Psychiatry. Frontiers in neural circuits (March 2022) P2rx7tm1a(EUCOMM)Wtsi PMC9001905
Circulating P2X7 Receptor Signaling Components as Diagnostic Biomarkers for Temporal Lobe Epilepsy. Cells (September 2021) P2rx7tm1a(EUCOMM)Wtsi PMC8467140
Update of P2X receptor properties and their pharmacology: IUPHAR Review 30. British journal of pharmacology (December 2020) P2rx7tm1a(EUCOMM)Wtsi 33125712
Deviant reporter expression and P2X4 passenger gene overexpression in the soluble EGFP BAC transgenic P2X7 reporter mouse model. Scientific reports (November 2020) P2rx7tm1b(EUCOMM)Wtsi PMC7669894
P2X7 Receptor-Dependent microRNA Expression Profile in the Brain Following Status Epilepticus in Mice. Frontiers in molecular neuroscience (August 2020) P2rx7tm1b(EUCOMM)Wtsi PMC7485385
Sensing of ATP via the Purinergic Receptor P2RX7 Promotes CD8+ Trm Cell Generation by Enhancing Their Sensitivity to the Cytokine TGF-β. Immunity (July 2020) P2rx7tm1a(EUCOMM)Wtsi 32640257
VEGF-A from Granuloma Macrophages Regulates Granulomatous Inflammation by a Non-angiogenic Pathway during Mycobacterial Infection. Cell reports (May 2019) P2rx7tm1a(EUCOMM)Wtsi 31091450
P2X7 receptor restrains pathogenic Tfh cell generation in systemic lupus erythematosus. The Journal of experimental medicine (January 2019) P2rx7tm1a(EUCOMM)Wtsi 30655308
Re-evaluation of neuronal P2X7 expression using novel mouse models and a P2X7-specific nanobody. eLife (August 2018) P2rx7tm1c(EUCOMM)Wtsi P2rx7tm1a(EUCOMM)Wtsi P2rx7tm1d(EUCOMM)Wtsi PMC6140716
Extracellular ATP is a danger signal activating P2X7 receptor in a LPS mediated inflammation (ARDS/ALI). Oncotarget (July 2018) P2rx7tm1a(EUCOMM)Wtsi PMC6078145
Genetically dissecting P2rx7 expression within the central nervous system using conditional humanized mice. Purinergic signalling (November 2016) P2rx7tm1a(EUCOMM)Wtsi PMC5432476
Extracellular ATP protects against sepsis through macrophage P2X7 purinergic receptors by enhancing intracellular bacterial killing. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (June 2015) P2rx7tm1a(EUCOMM)Wtsi PMC4550379

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MGI Allele Allele Type Produced
P2rx7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
P2rx7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
P2rx7tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
P2rx7tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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