Gene: P2rx7 MGI:1339957

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Gene Summary

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

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
decreased circulating glycerol level P2rx7tm1a(EUCOMM)Wtsi HOM Early adult 1.08×10-05
cataract P2rx7tm1b(EUCOMM)Wtsi HOM   Early adult 7.84×10-05

Download data as:  TSV  XLS

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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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
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
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Aniridia 3
Cataract OMIM:617142
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Cataract 7
Developmental cataract OMIM:115660
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Narcolepsy 7
Narcolepsy OMIM:614250
Galactosemia Iv
Cataract OMIM:618881
Aniridia 2
Cataract, Aniridia OMIM:617141
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cataract 43
Subcapsular cataract OMIM:616279
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Nathalie Syndrome
Cataract ORPHA:2663
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Slender long bones with narrow diaphyses, Dense metaphyseal bands, Small for gesta... ORPHA:50811
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Hypoplastic pelvis, Slender long bone, Spina bifida occulta, Hip dislocation, Limitation of joint... ORPHA:2840
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Mastocytosis, Splenomegaly ORPHA:98848
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Abnormality of epiphysis morphology, Metacarpal osteolysis, ... ORPHA:2774
Cataract 42
Developmental cataract OMIM:115900
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Dislocated radial head, Camptodactyly of finger, Arthrogryposis multiplex con... OMIM:610758
Proximal Myotonic Myopathy
Cataract ORPHA:606
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Duchenne And Becker Muscular Dystrophy
Slender long bone, Reduced bone mineral density, Joint stiffness ORPHA:262
Pick Disease Of Brain
Emotional blunting, Polyphagia, Apathy, Diminished motivation, Irritability OMIM:172700
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Camptodactyly Syndrome, Guadalajara, Type Ii
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Short middle phalanx of finger, Shor... OMIM:211920
Cutaneous Mastocytoma
Cutaneous mastocytosis ORPHA:79455
Galactosemia Ii
Cataract OMIM:230200
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Dermoids Of Cornea
Corneal opacity OMIM:304730
X-Linked Retinoschisis
Cataract ORPHA:792
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Three M Syndrome 3
Hip dysplasia, Prominent calcaneus, Joint hypermobility, Decreased body weight, Slender long bone... OMIM:614205
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Patent ductus arteriosus, Tibia... ORPHA:457395
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Slender long bone, Abnormal hip bone morp... ORPHA:1486
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, Limited elbow extension, Short ... OMIM:210720
Cataract 30, Multiple Types
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract OMIM:116300
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Wide anterior fontanel, Decreased calvarial ossification, Recurrent fracture... OMIM:259420
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W
Slender long bone, Hammertoe ORPHA:488333
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Three M Syndrome 1
Joint hypermobility, Hypoplastic pelvis, Slender long bone, Small for gestational age, Spina bifi... OMIM:273750
Frontotemporal Dementia
Apathy, Diminished motivation, Irritability, Polyphagia OMIM:600274
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, ... OMIM:608154
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Marshall-Smith Syndrome
Craniosynostosis, Joint hyperflexibility, Bowing of the long bones, Slender long bone, Reduced bo... ORPHA:561
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Aggressive behavior ORPHA:329249
Premature Aging Syndrome, Penttinen Type
Slender long bone, Osteopenia, Brachydactyly, Osteolytic defects of the phalanges of the hand OMIM:601812
Andersen Cardiodysrhythmic Periodic Paralysis
Short metatarsal, Short phalanx of finger, Toe syndactyly, Joint laxity, Short metacarpal, Clinod... OMIM:170390
Spinocerebellar Ataxia-Dysmorphism Syndrome
Slender long bone, Reduced bone mineral density, Joint hyperflexibility, Spina bifida occulta ORPHA:1185
Gracile Bone Dysplasia
Slender long bone, Asplenia, Flared metaphysis, Failure to thrive, Decreased skull ossification, ... OMIM:602361
Kenny-Caffey Syndrome, Type 1
Slender long bone, Small hand, Anemia, Short foot, Decreased skull ossification, Calvarial osteos... OMIM:244460
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Osteogenesis Imperfecta, Type Viii
Radial bowing, Wide anterior fontanel, Joint laxity, Recurrent fractures, Tibial bowing, Slender ... OMIM:610915
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
Cerebellofaciodental Syndrome
Slender long bone, Tapered finger OMIM:616202
Squalene Synthase Deficiency
2-3 toe syndactyly, Failure to thrive in infancy, Slender long bone, Knee flexion contracture, El... OMIM:618156
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Craniosynostosis, Camptodactyly of toe, Slender ... OMIM:600920
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Nathalie Syndrome
Cataract OMIM:255990
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Cataract 17, Multiple Types
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract OMIM:611544
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Generalized bone demineralization, Abnormal bone ossification, Short distal ... ORPHA:73230
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Hypoplasia of the radius, Hypoplastic pelvis, Rhizomelia, Hypoplasia of the ulna, Slender long bo... OMIM:602613
3M Syndrome
Rocker bottom foot, Congenital hip dislocation, Hypoplastic pelvis, Joint hyperflexibility, Hypop... ORPHA:2616
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Joint laxity, Flared iliac wing, Metatarsus adductus, Patholog... OMIM:271640
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Meier-Gorlin Syndrome 5
Slender long bone, Clinodactyly, Failure to thrive, Patellar aplasia, Irregular femoral epiphysis... OMIM:613805
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Camptodactyly, Failure to thrive in infancy, Slender long bone, Pancytop... OMIM:613385
Three M Syndrome 2
Prominent calcaneus, Slender long bone, Clinodactyly, Small for gestational age, Short 5th finger OMIM:612921
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Cataract 11, Multiple Types
Cataract OMIM:610623
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Retinitis Pigmentosa 84
Cataract OMIM:618220
Meier-Gorlin Syndrome 4
Slender long bone, Failure to thrive, Patellar aplasia OMIM:613804
Meier-Gorlin Syndrome 1
Genu valgum, Absent glenoid fossa, Absent sternal ossification, Joint laxity, Camptodactyly, Flex... OMIM:224690
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Meier-Gorlin Syndrome 2
Joint hypermobility, Camptodactyly, Slender long bone, Aplasia/Hypoplasia of the patella, Failure... OMIM:613800
Coats Disease
Abnormal anterior chamber morphology, Cataract, Aplasia/Hypoplasia of the iris ORPHA:190
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Joint hypermobility, Abnormal bone ossification, Thin metacarpal cortices, Slender long bone, Thi... ORPHA:2463
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Alg8-Cdg
Cataract ORPHA:79325
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Alazami Syndrome
Slender long bone ORPHA:319671
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Malan Overgrowth Syndrome
Slender long bone ORPHA:420179
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Marshall-Smith Syndrome
Bullet-shaped middle phalanges of the hand, Short sternum, Patent ductus arteriosus, Decreased bo... OMIM:602535
Cataract 24
Anterior polar cataract OMIM:601202
Maternal Uniparental Disomy Of Chromosome 6
Slender long bone, Thrombocytopenia ORPHA:96181
Congenital Disorder Of Glycosylation, Type Iia
Slender long bone, Failure to thrive, Osteopenia, Proximal placement of thumb, Coxa valga OMIM:212066
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hypoplastic pubic bone, Severe generalized osteoporosis, Hypoplastic ischia, Slender long bone, H... OMIM:210730
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Macrosomia Adiposa Congenita
Polyphagia OMIM:248100
Isolated Aniridia
Aniridia, Peters anomaly, Cataract ORPHA:250923
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Joint stiffn... ORPHA:240
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Retinitis Pigmentosa 23
Posterior subcapsular cataract OMIM:300424
Meier-Gorlin Syndrome 3
Slender long bone, Aplasia/Hypoplasia of the patella, Coxa vara, Genu varum, Failure to thrive, A... OMIM:613803
Cataract 6, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:116600
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Pellagra-Like Syndrome
Cataract OMIM:260650
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Aggressive behavior OMIM:614963
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Joint hypermobility, Upper limb undergrowth, Craniosynostosis, Patent ductus arteriosus, Slender ... ORPHA:369837
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Slender long bone, Osteopenia, Joint hypermobility OMIM:618590
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Faciocardiomelic Syndrome
Hypoplastic pelvis, Polydactyly, Slender long bone, Thin bony cortex, Osteopenia, Large for gesta... OMIM:612731
Early-Onset Schizophrenia
Polyphagia, Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional labilit... ORPHA:96369
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Hallermann-Streiff Syndrome
Joint hypermobility, Slender long bone, Small for gestational age, Metaphyseal widening, Decrease... OMIM:234100
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Bowing of the legs, Joint stiffness, Abnormality... ORPHA:93323
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Cataract, Band keratopathy OMIM:604278
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Osteogenesis Imperfecta
Joint hypermobility, Abnormality of long bone morphology, Abnormality of tibia morphology, Small ... ORPHA:666
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Craniosynostosis, Abnormality of epiphysis morphology, Joint hyperflexib... ORPHA:2554
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Tibial bowing ORPHA:2768
Leptin Deficiency Or Dysfunction
Abnormal eating behavior, Polyphagia OMIM:614962
Diffuse Cutaneous Mastocytosis
Leukemia, Cutaneous mastocytosis ORPHA:79456
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Maculopapular Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:79457
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Recurrent fractures... OMIM:600081
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Congenital Varicella Syndrome
Cataract ORPHA:291
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Micromelia, Short finger, Metaphy... OMIM:250215
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
Huntington Disease
Choking episodes, Aggressive behavior, Polyphagia, Apathy, Oral-pharyngeal dysphagia, Irritabilit... ORPHA:399
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Graves Disease, Susceptibility To, 1
Irritability, Polyphagia OMIM:275000
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Retinitis Pigmentosa 4
Cataract OMIM:613731
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract OMIM:615418
Seckel Syndrome 10
Slender long bone, Elevated hemoglobin A1c, Cone-shaped epiphysis, Metaphyseal widening OMIM:617253
Cerebellar-Facial-Dental Syndrome
Slender long bone, Contractures involving the joints of the feet, Tapered finger, Failure to thrive ORPHA:444072
Osteogenesis Imperfecta, Type Ii
Broad long bones, Absent ossification of calvaria, Recurrent fractures, Tibial bowing, Crumpled l... OMIM:166210
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Mastocytosis
Acute leukemia, Chronic leukemia, Mastocytosis, Splenomegaly ORPHA:98292
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... ORPHA:167
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Happy demeanor ORPHA:411515
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia ORPHA:71529
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity ORPHA:1473
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Camptodactyly of finger, Arthrogryposis multiplex congenita, Elbow ankylosis,... OMIM:208150
Retinitis Pigmentosa 2
Cataract OMIM:312600
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Cahmr Syndrome
Lamellar cataract OMIM:211770
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Joint laxity, Aplasia/Hypoplasia of metatarsal bon... ORPHA:2502
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma OMIM:212550
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic rickets, Tibial bowing, ... OMIM:307800
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation OMIM:216820
Wrinkly Skin Syndrome
Joint hypermobility, Congenital hip dislocation, Wide anterior fontanel, Slender long bone, Coxa ... OMIM:278250
Retinitis Pigmentosa 9
Cataract OMIM:180104
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Obesity Due To Sim1 Deficiency
Polyphagia ORPHA:369873
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia OMIM:609734
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Neurofibromatosis Type 1
Genu valgum, Chronic myelogenous leukemia, Recurrent fractures, Slender long bone, Abnormal hip b... ORPHA:636
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Sparse bone trabeculae, Rickets, Hypophosphatemic ri... OMIM:300554
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Microphakia, Lens subluxation ORPHA:171844
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia ORPHA:177910
Norrie Disease
Hypoplasia of the iris, Cataract, Shallow anterior chamber, Opacification of the corneal stroma OMIM:310600
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Spontaneous hemolytic... OMIM:613470
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Polyphagia, Emotional lability ORPHA:179494
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Joint hypermobility, Hyperextensible hand joints, Patent ductus arteriosus after birth at term, F... ORPHA:500150
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia ORPHA:71526
Achromatopsia 3
Cataract OMIM:262300
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
6Q16 Microdeletion Syndrome
Polyphagia ORPHA:171829
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia ORPHA:228402
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia ORPHA:276556
Luscan-Lumish Syndrome
Anxiety, Polyphagia, Aggressive behavior OMIM:616831
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hip dysplasia, Osteoporosis, Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Phalan... ORPHA:536467
Kyphomelic Dysplasia
Radial bowing, Short femur, Dumbbell-shaped humerus, Short humerus, Tibial bowing, Flat acetabula... OMIM:211350
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia ORPHA:276575
Temple Syndrome
Polyphagia ORPHA:254516
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia ORPHA:276580
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia ORPHA:324575
Chromosome 22Q13 Duplication Syndrome
Polyphagia OMIM:615538
Cebalid Syndrome
Polyphagia OMIM:618774
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
Insulinoma
Polyphagia, Anxiety ORPHA:97279
Spondylodysplastic Ehlers-Danlos Syndrome
Joint hypermobility, Slender long bones with narrow diaphyses, Partial duplication of thumb phala... ORPHA:536471
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... OMIM:618935
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Pediatric-Onset Graves Disease
Polydipsia, Irritability, Polyphagia, Mood swings ORPHA:525731
Mental Retardation, Autosomal Dominant 1
Self-injurious behavior, Polyphagia, Aggressive behavior OMIM:156200
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Polyphagia OMIM:607485
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion OMIM:614878
Schaaf-Yang Syndrome
Polyphagia OMIM:615547
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Polyphagia ORPHA:66628
Hypotonia-Cystinuria Syndrome
Polyphagia OMIM:606407
Man1B1-Cdg
Polyphagia ORPHA:397941
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Yunis-Varon Syndrome
Slender long bones with narrow diaphyses, Metatarsus adductus, Aplasia/hypoplasia of the 1st meta... ORPHA:3472
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Cataract, Microcornea, Sclerocornea OMIM:615877
Trisomy 18P
Polyphagia ORPHA:1715
Alport Syndrome 2, Autosomal Recessive
Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Morning Glory Disc Anomaly
Cataract ORPHA:35737
Angelman Syndrome
Polyphagia, Aggressive behavior, Dysphagia, Self-injurious behavior, Anxiety, Happy demeanor ORPHA:72
Ifap Syndrome 2
Cataract, Keratoconjunctivitis sicca, Keratitis OMIM:619016
Neurotrophic Keratopathy
Anterior uveitis, Allodynia ORPHA:137596
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6, Abnormality of serum cytokine level, Increased serum interfe... ORPHA:542323
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy ORPHA:293987
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Self-mutilation, Polyphagia, Aggressive behavior, Emotional lability ORPHA:251028
Niemann-Pick Disease Type C
Narcolepsy ORPHA:646
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Polyphagia ORPHA:398079
Trigeminal Neuralgia
Allodynia ORPHA:221091
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Skin-picking, Polyphagia, Bulimia ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Skin-picking, Polyphagia, Bulimia ORPHA:98793
Secondary Short Bowel Syndrome
Polyphagia ORPHA:95427
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Skin-picking, Polyphagia, Bulimia ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Skin-picking, Polyphagia, Bulimia ORPHA:177901
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Polyphagia, Anxiety, Aggressive behavior ORPHA:96121
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233710
Prader-Willi-Like Syndrome
Self-injurious behavior, Skin-picking, Polyphagia, Bulimia ORPHA:398073
Magel2-Related Prader-Willi-Like Syndrome
Skin-picking, Polyphagia ORPHA:398069
Gangliocytoma
Polyphagia ORPHA:251937
Paternal Uniparental Disomy Of Chromosome 1
Polyphagia ORPHA:251004
African Trypanosomiasis
Narcolepsy ORPHA:3385
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:306400
Wrinkly Skin Syndrome
Congenital hip dislocation, Generalized joint laxity, Slender long bones with narrow diaphyses, C... ORPHA:2834
Prader-Willi Syndrome
Self-injurious behavior, Polyphagia OMIM:176270
Pseudohypoparathyroidism Type 1C
Irritability, Anxiety, Polyphagia ORPHA:79444
Pseudohypoparathyroidism Type 1A
Irritability, Anxiety, Polyphagia, Abnormal platelet function ORPHA:79443
Adnp Syndrome
Anxiety, Polyphagia, Aggressive behavior, Oral-pharyngeal dysphagia ORPHA:404448
Benign Schwannoma
Allodynia ORPHA:252164
X-Linked Acrogigantism
Polyphagia ORPHA:300373
Prader-Willi Syndrome
Polyphagia ORPHA:739
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil ch... ORPHA:2968
Craniopharyngioma
Polyphagia ORPHA:54595
1P36 Deletion Syndrome
Dysphagia, Self-injurious behavior, Polyphagia ORPHA:1606
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Polyphagia OMIM:269700
Chromosome 1P36 Deletion Syndrome
Self-mutilation, Dysphagia, Polyphagia, Aggressive behavior OMIM:607872
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 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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) Targeting vectors, ES Cells
P2rx7tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
P2rx7tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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