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Gene: P2rx7 MGI:1339957

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating glycerol level P2rx7tm1a(EUCOMM)Wtsi HOM   Early adult 2.41×10-05
abnormal lens morphology P2rx7tm1b(EUCOMM)Wtsi HOM   Early adult 9.63×10-05
cataract P2rx7tm1b(EUCOMM)Wtsi HOM   Early adult 5.43×10-05

Download data as:  TSV  XLS

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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 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

2 Images

View 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
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 4, Multiple Types
Developmental cataract OMIM:115700
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
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, 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
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Galactosemia Iv
Cataract OMIM:618881
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nathalie Syndrome
Cataract ORPHA:2663
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 47
Microcornea, Cataract OMIM:612018
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Galactosemia Ii
Cataract OMIM:230200
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
X-Linked Retinoschisis
Cataract ORPHA:792
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Dense metaphyseal bands, Osteopenia, Small for gestational age, Slender long bones with narrow di... ORPHA:50811
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Limitation of joint mobility, Hip dislocation, Slender long bone, Hypoplastic pelvis, Spina bifid... ORPHA:2840
Proximal Myotonic Myopathy
Cataract ORPHA:606
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... OMIM:619795
Narcolepsy 3
Narcolepsy OMIM:609039
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Dermoids Of Cornea
Corneal opacity OMIM:304730
Pick Disease Of Brain
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl... OMIM:172700
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Slender long bone, M... ORPHA:2774
Indolent Systemic Mastocytosis
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology ORPHA:98848
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Narcolepsy 1
Narcolepsy OMIM:161400
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared... OMIM:610758
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Nathalie Syndrome
Cataract OMIM:255990
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Three M Syndrome 3
Small for gestational age, Slender long bone, Hip dysplasia, Decreased body weight, Clinodactyly ... OMIM:614205
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Slender long bone, Decreased calvarial ossification, Decreased body weight, Art... OMIM:618265
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... ORPHA:1486
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Narcolepsy 7
Narcolepsy OMIM:614250
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Dysequilibrium Syndrome
Cataract ORPHA:1766
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W
Slender long bone, Hammertoe ORPHA:488333
Three M Syndrome 1
Small for gestational age, Hip dislocation, Slender long bone, Short 5th finger, Hypoplastic pelv... OMIM:273750
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Gracile Bone Dysplasia
Failure to thrive, Asplenia, Flared metaphysis, Slender long bone, Hypoplastic spleen, Decreased ... OMIM:602361
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Failure to thrive, Small for gestational age, Genu valgum, Slender long bones with na... OMIM:608154
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... ORPHA:561
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Kenny-Caffey Syndrome, Type 1
Small hand, Short foot, Slender long bone, Short palm, Decreased skull ossification, Calvarial os... OMIM:244460
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Frontotemporal Dementia
Irritability, Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Spinocerebellar Ataxia-Dysmorphism Syndrome
Slender long bone, Spina bifida occulta, Joint hyperflexibility, Reduced bone mineral density ORPHA:1185
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Metaphyseal widening, Triangular shaped distal phalanges of the hand, Slender long bone, Abnormal... ORPHA:73230
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Squalene Synthase Deficiency
Failure to thrive in infancy, Elbow flexion contracture, 2-3 toe syndactyly, Knee flexion contrac... OMIM:618156
Retinitis Pigmentosa 40
Cataract OMIM:613801
Aniridia 3
Aniridia, Cataract OMIM:617142
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
3M Syndrome
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Hypoplastic p... ORPHA:2616
Pellagra-Like Syndrome
Cataract OMIM:260650
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Larg... OMIM:271640
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Pancytopenia, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Slender l... OMIM:613385
Cataract 24
Anterior polar cataract OMIM:601202
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Three M Syndrome 2
Small for gestational age, Slender long bone, Short 5th finger, Prominent calcaneus, Clinodactyly OMIM:612921
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Meier-Gorlin Syndrome 2
Patellar aplasia, Slender long bone, Camptodactyly, Tracheomalacia, Failure to thrive, Joint hype... OMIM:613800
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Meier-Gorlin Syndrome 5
Irregular femoral epiphysis, Patellar aplasia, Slender long bone, Hypoplasia of the capital femor... OMIM:613805
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexion contracture,... OMIM:600920
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... ORPHA:33543
Short Syndrome
Joint laxity, Enlarged epiphyses, Small for gestational age, Slender long bone, Radial deviation ... OMIM:269880
Meier-Gorlin Syndrome 4
Slender long bone, Failure to thrive, Patellar aplasia OMIM:613804
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Osteopenia, Arachnodactyly, Joint hypermobility, Thin metatarsal cortices, Sle... ORPHA:2463
Leptin Receptor Deficiency
Emotional lability, Abnormal eating behavior, Polyphagia, Aggressive behavior OMIM:614963
Meier-Gorlin Syndrome 1
Flat glenoid fossa, Flexion contracture, Cutaneous finger syndactyly, Short palm, Clinodactyly of... OMIM:224690
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Cataract 48
Cataract OMIM:618415
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Short metacarpal, Toe syndactyly, Short metatarsal, Small hand, Small finger, Short... OMIM:170390
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Maternal Uniparental Disomy Of Chromosome 6
Slender long bone, Thrombocytopenia ORPHA:96181
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Alazami Syndrome
Slender long bone ORPHA:319671
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Failure to thrive, Recurrent fractures, Osteoporosis, Tibial bowing, Short foot, S... OMIM:601812
Malan Overgrowth Syndrome
Slender long bone ORPHA:420179
Congenital Varicella Syndrome
Cataract ORPHA:291
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Meier-Gorlin Syndrome 3
Absent sternal ossification, Aplasia/Hypoplasia of the patella, Patellar aplasia, Coxa vara, Pate... OMIM:613803
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe generalized osteoporosis, Hypoplastic pubic bone, Cone-shaped epiphyses o... OMIM:210730
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Proximal placement of thumb, Coxa valga, Slender long bone, Failure to thrive OMIM:212066
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Depression, Irritability, Addictive alcohol use, ... ORPHA:399
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Cerebellofaciodental Syndrome
Tapered finger, Shortening of all distal phalanges of the fingers, Genu valgum, Slender long bone... OMIM:616202
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Slender long bone, Joint hypermobility OMIM:618590
Retinitis Pigmentosa 9
Cataract OMIM:180104
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Patent ductus arteriosus, Upper limb undergrowth, Obesity, Slender ... ORPHA:369837
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Aggressive behavior ORPHA:329249
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Chromosome 22Q13 Duplication Syndrome
Emotional lability, Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Marshall-Smith Syndrome
Hallux valgus, Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, ... OMIM:602535
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin b... OMIM:612731
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Obesity And Hypopigmentation
Polyphagia OMIM:620195
Cahmr Syndrome
Lamellar cataract OMIM:211770
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Seckel Syndrome 10
Cone-shaped epiphysis, Slender long bone, Metaphyseal widening, Elevated hemoglobin A1c OMIM:617253
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Osteogenesis Imperfecta
Osteopenia, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal ... ORPHA:666
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Patellar aplasia, Slender long bone... ORPHA:2554
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity, Polyphagia OMIM:275000
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Tapered toe, Shoulder flexion contracture, Limb joint contracture, Achilles tend... OMIM:620369
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Hallermann-Streiff Syndrome
Small for gestational age, Metaphyseal widening, Slender long bone, Decreased number of sternal o... OMIM:234100
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Cerebellar-Facial-Dental Syndrome
Slender long bone, Failure to thrive, Foot joint contracture, Tapered finger ORPHA:444072
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Retinitis Pigmentosa 84
Cataract OMIM:618220
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia ORPHA:71529
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Stickler Syndrome, Type V
Cataract OMIM:614284
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
14Q11.2 Microduplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
Leptin Deficiency Or Dysfunction
Polyphagia OMIM:614962
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Cataract, Lens subluxation OMIM:216820
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Small for gestational age, Rocker bottom foot, Camp... OMIM:208150
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter ORPHA:411515
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Achromatopsia 3
Cataract OMIM:262300
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Obesity Due To Leptin Receptor Gene Deficiency
Emotional lability, Decreased T cell activation, Polyphagia ORPHA:179494
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Genu valgum, Chronic myelogenous leukemia, Slender long bon... ORPHA:636
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Small for gestational age, Hypoplastic ilia, Long fingers, ... OMIM:264090
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Wide anterior fontanel, Coxa vara, Slender long bone, Tal... OMIM:278250
6Q16 Microdeletion Syndrome
Polyphagia, Abnormal temper tantrums ORPHA:171829
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Wagro Syndrome
Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Emotional labili... OMIM:612469
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Cataract, Iris coloboma, Corneal scarring OMIM:212550
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Metaphyseal widening, Hip dislocation, Hand... OMIM:620083
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Arachnodactyly, Failure to thrive in infancy, Sagittal craniosynostosis, Absent thumb, Patent duc... ORPHA:500150
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia ORPHA:276556
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract OMIM:601794
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Polyphagia ORPHA:276575
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joint laxity, Abnormal... ORPHA:536471
Body Mass Index Quantitative Trait Locus 19
Polyphagia OMIM:617885
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Agitation, Polyphagia ORPHA:324575
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Osteopenia, Bowing of the long bones, Multiple joint contractures, Arachnodactyly,... ORPHA:536467
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... OMIM:300106
Schaaf-Yang Syndrome
Skin-picking, Polyphagia, Impulsivity OMIM:615547
Temple Syndrome
Polyphagia ORPHA:254516
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Pediatric-Onset Graves Disease
Hyperactivity, Irritability, Emotional lability, Polydipsia, Polyphagia ORPHA:525731
Cebalid Syndrome
Polyphagia OMIM:618774
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract OMIM:614878
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Polyphagia ORPHA:66628
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Hypotonia-Cystinuria Syndrome
Polyphagia OMIM:606407
Martsolf Syndrome 1
Joint laxity, Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata... OMIM:212720
Man1B1-Cdg
Polyphagia ORPHA:397941
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... ORPHA:72
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Abnormal finger morphology, Aplasia of the 1st metac... ORPHA:3472
Neurotrophic Keratopathy
Anterior uveitis, Allodynia ORPHA:137596
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior OMIM:616831
Intellectual Developmental Disorder, Autosomal Dominant 1
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... OMIM:156200
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Aggressive behavior, Emotional lability, Polyphagia, Self-mutilation ORPHA:251028
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia OMIM:609734
Insulinoma
Polyphagia ORPHA:97279
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Trigeminal Neuralgia
Allodynia ORPHA:221091
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Secondary Short Bowel Syndrome
Polyphagia ORPHA:95427
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... ORPHA:177901
Magel2-Related Prader-Willi-Like Syndrome
Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Polyphagia ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia ORPHA:98754
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Polyphagia, Abnormal temper tantrums ORPHA:398079
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia ORPHA:251004
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Gangliocytoma
Polyphagia ORPHA:251937
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... ORPHA:96121
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Pseudohypoparathyroidism Type 1C
Irritability, Polyphagia, Depression ORPHA:79444
Adnp Syndrome
Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, Attention deficit hyper... ORPHA:404448
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Irritability, Compulsive behav... OMIM:615873
Pseudohypoparathyroidism Type 1A
Irritability, Polyphagia, Abnormal platelet function, Depression ORPHA:79443
Prader-Willi Syndrome
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder OMIM:176270
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Slender long bones w... ORPHA:2834
Weaver Syndrome
Polyphagia OMIM:277590
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors, Emotional labilit... ORPHA:293987
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... OMIM:620330
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess OMIM:306400
Prader-Willi Syndrome
Polyphagia, Attention deficit hyperactivity disorder ORPHA:739
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Craniopharyngioma
Polyphagia ORPHA:54595
African Trypanosomiasis
Narcolepsy ORPHA:3385
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... ORPHA:2968
1P36 Deletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia ORPHA:1606
Benign Schwannoma
Allodynia ORPHA:252164
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder 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 17 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
P2X7 receptor inhibition ameliorates ubiquitin-proteasome system dysfunction associated with Alzheimer's disease. Alzheimer's research & therapy (June 2023) P2rx7tm1e(EUCOMM)Wtsi PMC10245610
Macrophages and glia are the dominant P2X7-expressing cell types in the gut nervous system-No evidence for the role of neuronal P2X7 receptors in colitis. Mucosal immunology (January 2023) P2rx7tm1d(EUCOMM)Wtsi 36634819
Increased uptake of the P2X7 receptor radiotracer 18 F-JNJ-64413739 in the brain and peripheral organs according to the severity of status epilepticus in male mice. Epilepsia (December 2022) P2rx7tm1a(EUCOMM)Wtsi PMC10108015
P2X7 receptor activation impairs antitumour activity of natural killer cells. British journal of pharmacology (October 2022) P2rx7tm1a(EUCOMM)Wtsi PMC10092446
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
P2X7 receptor blockade reduces tau induced toxicity, therapeutic implications in tauopathies. Progress in neurobiology (September 2021) P2rx7tm1d(EUCOMM)Wtsi 34516970
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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