Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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.
The table below shows human diseases associated to Itpr2 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Anhidrosis, Isolated, With Normal Sweat Glands | Generalized anhidrosis | OMIM:106190 |
The table below shows human diseases predicted to be associated to Itpr2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Aplasia Of Extensor Muscles Of Fingers, Unilateral, With Generalized Polyneuropathy | Hypohidrosis | OMIM:207740 | |
Hyperhidrosis Palmaris Et Plantaris | Palmoplantar hyperhidrosis | OMIM:144110 | |
Granulosis Rubra Nasi | Hyperhidrosis | OMIM:139000 | |
Hyperhidrosis, Gustatory | Hyperhidrosis | OMIM:144100 | |
Palmoplantar Keratoderma, Nagashima Type | Hyperhidrosis | ORPHA:140966 | |
Marsili Syndrome | Hypohidrosis | OMIM:147430 | |
Keratosis Palmaris Et Plantaris-Clinodactyly Syndrome | Hyperhidrosis | ORPHA:86919 | |
Buerger Disease | Hyperhidrosis | OMIM:211480 | |
Hypohidrosis With Abnormal Palmar Dermal Ridges | Hypohidrosis | OMIM:241120 | |
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant | Hypohidrosis | OMIM:605827 | |
Shaheen Syndrome | Hypohidrosis | OMIM:615328 | |
Keratolytic Winter Erythema | Hyperhidrosis | ORPHA:50943 | |
Naegeli-Franceschetti-Jadassohn Syndrome | Hypohidrosis | OMIM:161000 | |
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas | Hyperhidrosis | OMIM:600419 | |
Absence Of Fingerprints-Congenital Milia Syndrome | Hypohidrosis | ORPHA:1658 | |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome | Hypohidrosis | ORPHA:1484 | |
Ectodermal Dysplasia 14, Hair/Tooth Type, With Or Without Hypohidrosis | Hypohidrosis | OMIM:618180 | |
Ichthyosis, X-Linked | Hypohidrosis | OMIM:308100 | |
Van Den Bosch Syndrome | Anhidrosis | OMIM:314500 | |
Recessive X-Linked Ichthyosis | Hypohidrosis | ORPHA:461 | |
Dermatopathia Pigmentosa Reticularis | Hypohidrosis | OMIM:125595 | |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia | Hypohidrosis | ORPHA:248 | |
Spinocerebellar Ataxia Type 34 | Hypohidrosis | ORPHA:1955 | |
Digital Extensor Muscle Aplasia-Polyneuropathy | Hypohidrosis | ORPHA:2926 | |
Cluster Headache, Familial | Hyperhidrosis | OMIM:119915 | |
Mal De Meleda | Hyperhidrosis | OMIM:248300 | |
Ectodermal Dysplasia With Mental Retardation And Syndactyly | Hypohidrosis | OMIM:600906 | |
Ectodermal Dysplasia With Adrenal Cyst | Hypohidrosis | OMIM:129550 | |
Basan Syndrome | Palmoplantar hypohidrosis | OMIM:129200 | |
Peripheral Motor Neuropathy-Dysautonomia Syndrome | Hyperhidrosis | ORPHA:2400 | |
Isaacs Syndrome | Hyperhidrosis | ORPHA:84142 | |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant | Hypohidrosis | OMIM:129490 | |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome | Hypothyroidism, Hypohidrosis | ORPHA:1882 | |
Ichthyosis, Congenital, Autosomal Recessive 3 | Hypohidrosis, Anhidrosis | OMIM:606545 | |
X-Linked Hypohidrotic Ectodermal Dysplasia | Anterior hypopituitarism, Hypohidrosis | ORPHA:181 | |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia | Hypohidrosis | ORPHA:1810 | |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive | Hyperhidrosis | OMIM:137200 | |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome | Hypohidrosis | ORPHA:363523 | |
Ameloonychohypohidrotic Syndrome | Hypohidrosis | OMIM:104570 | |
Dermoodontodysplasia | Hypohidrosis | ORPHA:1660 | |
Crisponi Syndrome | Hyperhidrosis, Hypohidrosis | ORPHA:1545 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii | Hyperhidrosis | OMIM:615548 | |
Focal Palmoplantar And Gingival Keratoderma | Hyperhidrosis | ORPHA:2200 | |
Erythrokeratodermia Variabilis Et Progressiva 7 | Anhidrosis | OMIM:619209 | |
Indifference To Pain, Congenital, Autosomal Recessive | Hypohidrosis, Anhidrosis | OMIM:243000 | |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis | Hypohidrosis | OMIM:615704 | |
Böök Syndrome | Hyperhidrosis | ORPHA:1262 | |
Buerger Disease | Hyperhidrosis | ORPHA:36258 | |
Dermotrichic Syndrome | Hypohidrosis | ORPHA:99688 | |
Amelocerebrohypohidrotic Syndrome | Hypohidrosis | ORPHA:1946 | |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant | Hypohidrosis, Anhidrosis | OMIM:614940 | |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type | Hypohidrosis | OMIM:618535 | |
Congenital Non-Bullous Ichthyosiform Erythroderma | Hypohidrosis | ORPHA:79394 | |
Immunodeficiency 10 | Hypohidrosis | OMIM:612783 | |
Syndromic Recessive X-Linked Ichthyosis | Hypohidrosis | ORPHA:281090 | |
Ichthyosis, Congenital, Autosomal Recessive 9 | Hypohidrosis | OMIM:615023 | |
Limb-Mammary Syndrome | Hypohidrosis | OMIM:603543 | |
Dahlberg-Borer-Newcomer Syndrome | Hypothyroidism, Hypohidrosis, Hypoparathyroidism | ORPHA:1563 | |
Laron Syndrome | Hypohidrosis | ORPHA:633 | |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive | Hypohidrosis, Anhidrosis | OMIM:224900 | |
Bazex Syndrome | Hypohidrosis | OMIM:301845 | |
X-Linked Lissencephaly With Abnormal Genitalia | Exocrine pancreatic insufficiency, Hypohidrosis | ORPHA:452 | |
Mal De Meleda | Hyperhidrosis | ORPHA:87503 | |
Amelo-Onycho-Hypohidrotic Syndrome | Hypohidrosis | ORPHA:1028 | |
Tetrasomy 12P | Hypohidrosis | ORPHA:884 | |
Helix Syndrome | Xerostomia, Hypohidrosis, Anhidrosis, Hyperparathyroidism | OMIM:617671 | |
Ichthyosis, Congenital, Autosomal Recessive 11 | Hypohidrosis | OMIM:602400 | |
Diencephalic Syndrome | Hyperhidrosis | ORPHA:1672 | |
Nodular Lymphocyte Predominant Hodgkin Lymphoma | Hyperhidrosis | ORPHA:86893 | |
Ichthyosis, Congenital, Autosomal Recessive 2 | Hypohidrosis, Anhidrosis | OMIM:242100 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii | Hypohidrosis | OMIM:616488 | |
Epidermolytic Palmoplantar Keratoderma | Hyperhidrosis | ORPHA:2199 | |
Ichthyosis, Congenital, Autosomal Recessive 6 | Hypohidrosis | OMIM:612281 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib | Episodic hyperhidrosis | OMIM:613115 | |
Ectodermal Dysplasia-Syndactyly Syndrome 2 | Hyperhidrosis | OMIM:613576 | |
Bathing Suit Ichthyosis | Hypohidrosis | ORPHA:100976 | |
Isolated Congenital Digital Clubbing | Hyperhidrosis | ORPHA:217059 | |
Lelis Syndrome | Hypohidrosis | ORPHA:140936 | |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 | Hyperhidrosis | ORPHA:231147 | |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type | Hypohidrosis | OMIM:617337 | |
Neuropathy, Hereditary Sensory And Autonomic, Type V | Anhidrosis | OMIM:608654 | |
Johnson Neuroectodermal Syndrome | Hypohidrosis | ORPHA:2316 | |
Johnson Neuroectodermal Syndrome | Hypohidrosis | OMIM:147770 | |
Hodgkin Lymphoma | Hyperhidrosis | ORPHA:98293 | |
Graves Disease, Susceptibility To, 1 | Hyperhidrosis, Increased circulating free T4 concentration, Graves disease, Increased circulating... | OMIM:275000 | |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant | Decreased sweating due to autonomic dysfunction | OMIM:169500 | |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome | Anhidrosis | OMIM:614979 | |
Congenital Disorder Of Glycosylation, Type Iil | Hypohidrosis | OMIM:614576 | |
Intellectual Disability-Strabismus Syndrome | Hypothyroidism, Hypohidrosis, Decreased response to growth hormone stimulation test | ORPHA:363528 | |
Naegeli-Franceschetti-Jadassohn Syndrome | Hypohidrosis, Anhidrosis | ORPHA:69087 | |
Sandhoff Disease | Hyperhidrosis, Hypohidrosis | OMIM:268800 | |
Ectodermal Dysplasia-Blindness Syndrome | Hypohidrosis | ORPHA:1806 | |
Localized Epidermolysis Bullosa Simplex | Hyperhidrosis | ORPHA:79400 | |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 | Hypohidrosis | OMIM:616866 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Hyperhidrosis, Pancreatic islet-cell hyperplasia | ORPHA:276608 | |
Lambert-Eaton Myasthenic Syndrome | Hypohidrosis, Xerostomia | ORPHA:43393 | |
Hereditary Sensory And Autonomic Neuropathy Type 2 | Hyperhidrosis | ORPHA:970 | |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked | Hypohidrosis | OMIM:301220 | |
Silver-Russell Syndrome 2 | Hyperhidrosis | OMIM:618905 | |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome | Hyperhidrosis | ORPHA:2151 | |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome | Hypohidrosis | ORPHA:1005 | |
Spontaneous Periodic Hypothermia | Hyperhidrosis | ORPHA:29822 | |
Parkinsonism-Dystonia 2, Infantile-Onset | Hyperhidrosis | OMIM:618049 | |
Multiple System Atrophy 1, Susceptibility To | Hypohidrosis, Anhidrosis | OMIM:146500 | |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome | Hypothyroidism, Hypohidrosis | ORPHA:1812 | |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse | Hyperhidrosis | OMIM:148700 | |
Septo-Optic Dysplasia Spectrum | Hypohidrosis | ORPHA:3157 | |
Postorgasmic Illness Syndrome | Hyperhidrosis, Xerostomia | ORPHA:279947 | |
Neurodevelopmental Disorder With Dystonia And Seizures | Hyperhidrosis | OMIM:619922 | |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 | Hyperhidrosis | ORPHA:231140 | |
Tooth Agenesis, Selective, 4 | Palmoplantar hyperhidrosis, Hypohidrosis | OMIM:150400 | |
Odontoonychodermal Dysplasia | Hyperhidrosis, Hypohidrosis, Palmoplantar hyperhidrosis | OMIM:257980 | |
Erythermalgia, Primary | Hyperhidrosis, Xerostomia | OMIM:133020 | |
Fabry Disease | Hypohidrosis | OMIM:301500 | |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome | Hypohidrosis | ORPHA:3253 | |
Naxos Disease | Hyperhidrosis | ORPHA:34217 | |
Hereditary Sensory And Autonomic Neuropathy Type 5 | Anhidrosis | ORPHA:64752 | |
Marshall Syndrome | Hypohidrosis | ORPHA:560 | |
Familial Cold Urticaria | Hyperhidrosis | ORPHA:47045 | |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant | Hypohidrosis | OMIM:148210 | |
Familial Dysautonomia | Hyperhidrosis, Hypohidrosis | ORPHA:1764 | |
Thymic Carcinoma | Hyperhidrosis | ORPHA:99868 | |
Phelan-Mcdermid Syndrome | Hypohidrosis | OMIM:606232 | |
Hypohidrotic Ectodermal Dysplasia | Hypohidrosis, Xerostomia | ORPHA:238468 | |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia | Hypohidrosis | OMIM:300749 | |
Tooth Agenesis, Selective, 3 | Anhidrosis | OMIM:604625 | |
Frontonasal Dysplasia 2 | Hypohidrosis | OMIM:613451 | |
Stiff Person Spectrum Disorder | Hypothyroidism, Hyperhidrosis | ORPHA:3198 | |
Ectodermal Dysplasia And Immunodeficiency 2 | Hypohidrosis, Anhidrosis | OMIM:612132 | |
Chondroectodermal Dysplasia With Night Blindness | Hyperhidrosis | ORPHA:319195 | |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome | Adrenal insufficiency, Hypohidrosis | OMIM:615510 | |
Microcephalic Primordial Dwarfism, Montreal Type | Hyperhidrosis | ORPHA:2617 | |
Scleroderma | Hypohidrosis | ORPHA:801 | |
Tufted Angioma | Hyperhidrosis | ORPHA:1063 | |
Rapp-Hodgkin Syndrome | Hypohidrosis | OMIM:129400 | |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication | Hyperhidrosis | ORPHA:231137 | |
Late-Onset Junctional Epidermolysis Bullosa | Hyperhidrosis | ORPHA:79406 | |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency | Hyperhidrosis | ORPHA:70594 | |
Sunct Syndrome | Hyperhidrosis, Episodic hyperhidrosis | ORPHA:57145 | |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 | Hyperhidrosis | OMIM:614441 | |
Arthrogryposis And Ectodermal Dysplasia | Hypohidrosis | OMIM:601701 | |
Cockayne Syndrome Type 1 | Hypohidrosis | ORPHA:90321 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia | Anhidrosis, Episodic hyperhidrosis | OMIM:201300 | |
Babesiosis | Hyperhidrosis | ORPHA:108 | |
Medullary Thyroid Carcinoma | Hyperhidrosis, Primary hyperparathyroidism | ORPHA:1332 | |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency | Focal pancreatic islet hyperplasia, Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia | ORPHA:276575 | |
Cardiofaciocutaneous Syndrome 3 | Hyperhidrosis | OMIM:615279 | |
Arachnoiditis | Anhidrosis | ORPHA:137817 | |
Hyperinsulinism Due To Ucp2 Deficiency | Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia | ORPHA:276556 | |
Deeah Syndrome | Hypohidrosis, Decreased circulating free T4 concentration, Decreased response to growth hormone s... | OMIM:619004 | |
Anhidrosis, Isolated, With Normal Sweat Glands | Generalized anhidrosis | OMIM:106190 | |
Classic Hodgkin Lymphoma | Hyperhidrosis | ORPHA:391 | |
Episodic Ataxia Type 1 | Hyperhidrosis | ORPHA:37612 | |
Systemic Sclerosis | Hypohidrosis | ORPHA:90291 | |
Paragangliomas 3 | Hyperhidrosis | OMIM:605373 | |
Chromosome Xq26.3 Duplication Syndrome | Hyperhidrosis, Increased circulating prolactin concentration, Hypopituitarism, Elevated circulati... | OMIM:300942 | |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency | Episodic hyperhidrosis, Diffuse pancreatic islet hyperplasia | ORPHA:276580 | |
Ectodermal Dysplasia/Skin Fragility Syndrome | Anhidrosis | OMIM:604536 | |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked | Hypohidrosis, Anhidrosis | OMIM:305100 | |
Spastic Paraplegia, Optic Atrophy, And Neuropathy | Hyperhidrosis | OMIM:609541 | |
Dopa-Responsive Dystonia | Hyperhidrosis | ORPHA:255 | |
Eec Syndrome | Anterior hypopituitarism, Hypohidrosis, Decreased response to growth hormone stimulation test, Xe... | ORPHA:1896 | |
Chand Syndrome | Hypohidrosis | ORPHA:1401 | |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome | Hyperhidrosis | ORPHA:320406 | |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) | Hyperhidrosis | OMIM:245400 | |
Bjornstad Syndrome | Anhidrosis | OMIM:262000 | |
Pheochromocytoma--Islet Cell Tumor Syndrome | Hyperhidrosis | OMIM:171420 | |
Juvenile Neuronal Ceroid Lipofuscinosis | Hyperhidrosis | ORPHA:79264 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic | Anhidrosis | OMIM:613640 | |
Kid Syndrome | Hypohidrosis | ORPHA:477 | |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease | Hypohidrosis | OMIM:609136 | |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities | Hyperhidrosis | OMIM:619173 | |
Pure Autonomic Failure | Anhidrosis | ORPHA:441 | |
Adult-Onset Autosomal Dominant Leukodystrophy | Anhidrosis, Decreased sweating due to autonomic dysfunction | ORPHA:99027 | |
Pituitary Gigantism | Hyperhidrosis, Increased circulating prolactin concentration, Elevated circulating growth hormone... | ORPHA:99725 | |
Scalp-Ear-Nipple Syndrome | Hypohidrosis | ORPHA:2036 | |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant | Hyperhidrosis | OMIM:167100 | |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease | Hypohidrosis | ORPHA:163746 | |
Insulinoma | Hyperhidrosis, Primary hyperparathyroidism, Abnormality of the pancreatic islet cells | ORPHA:97279 | |
Takayasu Arteritis | Hyperhidrosis | ORPHA:3287 | |
Fatal Familial Insomnia | Hyperhidrosis | OMIM:600072 | |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 | Hyperhidrosis | OMIM:604320 | |
Hyperinsulinism Due To Hnf1A Deficiency | Episodic hyperhidrosis | ORPHA:324575 | |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome | Hypohidrosis | ORPHA:1071 | |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia | Hyperhidrosis | OMIM:614299 | |
Cardiofaciocutaneous Syndrome 4 | Hyperhidrosis, Decreased response to growth hormone stimulation test | OMIM:615280 | |
Stüve-Wiedemann Syndrome | Hypothyroidism, Hypohidrosis, Hyperhidrosis | ORPHA:3206 | |
Olmsted Syndrome 1 | Hyperhidrosis | OMIM:614594 | |
Tyrosinemia Type 2 | Hyperhidrosis | ORPHA:28378 | |
Paragangliomas 1 | Hyperhidrosis | OMIM:168000 | |
Limb-Mammary Syndrome | Hypohidrosis | ORPHA:69085 | |
Fabry Disease | Hypohidrosis | ORPHA:324 | |
Brain Dopamine-Serotonin Vesicular Transport Disease | Hyperhidrosis | ORPHA:352649 | |
Pediatric-Onset Graves Disease | Hyperhidrosis, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Increa... | ORPHA:525731 | |
Scalp-Ear-Nipple Syndrome | Hypohidrosis | OMIM:181270 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Central hypothyroidism, Hypohidrosis, Increased circulating prolactin concentration, Gonadotropin... | ORPHA:293987 | |
Anterior Cutaneous Nerve Entrapment Syndrome | Hyperhidrosis | ORPHA:51890 | |
Gangliocytoma | Hyperhidrosis, Elevated circulating growth hormone concentration, Adrenocorticotropic hormone exc... | ORPHA:251937 | |
Cystinosis, Nephropathic | Exocrine pancreatic insufficiency, Hypohidrosis, Primary hypothyroidism | OMIM:219800 | |
Scrub Typhus | Hyperhidrosis | ORPHA:83317 | |
Ectodermal Dysplasia-Skin Fragility Syndrome | Hypohidrosis | ORPHA:158668 | |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia | Hyperhidrosis | ORPHA:324442 | |
Hyperinsulinism Due To Hnf4A Deficiency | Hyperhidrosis, Pancreatic islet-cell hyperplasia | ORPHA:263455 | |
Noonan Syndrome 7 | Hyperhidrosis | OMIM:613706 | |
Non-Functioning Paraganglioma | Episodic hyperhidrosis | ORPHA:94080 | |
Stiff-Person Syndrome | Hyperhidrosis | OMIM:184850 | |
Ullrich Congenital Muscular Dystrophy 1 | Hyperhidrosis | OMIM:254090 | |
Fucosidosis | Hypothyroidism, Hyperhidrosis | ORPHA:349 | |
Crisponi/Cold-Induced Sweating Syndrome 1 | Hyperhidrosis | OMIM:272430 | |
Adrenocortical Carcinoma | Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol level, Adrenocorticotropic horm... | ORPHA:1501 | |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques | Palmoplantar hyperhidrosis, Anhidrosis | ORPHA:659 | |
Hypermanganesemia With Dystonia 2 | Hyperhidrosis | OMIM:617013 | |
Leprosy | Hypohidrosis | ORPHA:548 | |
Monosomy 22Q13.3 | Hypohidrosis | ORPHA:48652 | |
Pachyonychia Congenita 3 | Hyperhidrosis | OMIM:615726 | |
Congenitally Uncorrected Transposition Of The Great Arteries | Hyperhidrosis | ORPHA:860 | |
Trichorhinophalangeal Syndrome, Type Ii | Hyperhidrosis, Hypohidrosis | OMIM:150230 | |
X-Linked Acrogigantism | Hyperhidrosis, Increased circulating prolactin concentration, Hypopituitarism, Elevated circulati... | ORPHA:300373 | |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome | Hypohidrosis | ORPHA:2273 | |
Pheochromocytoma | Hyperhidrosis | OMIM:171300 | |
Familial Tumoral Calcinosis | Hyperhidrosis | ORPHA:53715 | |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 | Hyperhidrosis | OMIM:259100 | |
Noonan Syndrome 14 | Hyperhidrosis | OMIM:619745 | |
Silver-Russell Syndrome | Hyperhidrosis | ORPHA:813 | |
Serotonin Syndrome | Hyperhidrosis | ORPHA:43116 | |
X-Linked Intellectual Disability, Cabezas Type | Hyperhidrosis | ORPHA:85293 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Hyperhidrosis | OMIM:608643 | |
Combined Immunodeficiency Due To Crac Channel Dysfunction | Anhidrosis | ORPHA:169090 | |
Familial Thrombocytosis | Hyperhidrosis | ORPHA:71493 | |
Paragangliomas 4 | Hyperhidrosis | OMIM:115310 | |
Thyrotoxic Periodic Paralysis | Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w... | ORPHA:79102 | |
Giant Cell Arteritis | Hyperhidrosis | ORPHA:397 | |
Phakomatosis Pigmentokeratotica | Hyperhidrosis | ORPHA:2874 | |
Ifap Syndrome 1, With Or Without Bresheck Syndrome | Hypohidrosis | OMIM:308205 | |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive | Anhidrosis, Xerostomia | OMIM:614941 | |
Insensitivity To Pain, Congenital, With Anhidrosis | Anhidrosis | OMIM:256800 | |
Cardiofaciocutaneous Syndrome 1 | Hyperhidrosis | OMIM:115150 | |
Plaa-Associated Neurodevelopmental Disorder | Hyperhidrosis | ORPHA:521426 | |
Tsh-Secreting Pituitary Adenoma | Hyperhidrosis, Increased circulating prolactin concentration, Hyperthyroidism, Thyroid crisis, Ad... | ORPHA:91347 | |
Paternal Uniparental Disomy Of Chromosome 1 | Anhidrosis | ORPHA:251004 | |
Malt Lymphoma | Hyperhidrosis | ORPHA:52417 | |
Sporadic Pheochromocytoma/Secreting Paraganglioma | Episodic hyperhidrosis | ORPHA:276621 | |
Pachydermoperiostosis | Hyperhidrosis, Elevated circulating growth hormone concentration | ORPHA:2796 | |
Central Hypoventilation Syndrome, Congenital, 1 | Hyperhidrosis | OMIM:209880 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi | Hyperhidrosis | OMIM:614653 | |
Lujo Hemorrhagic Fever | Hyperhidrosis | ORPHA:319213 | |
Alexander Disease | Hypothyroidism, Hyperhidrosis | ORPHA:58 | |
Complete Atrioventricular Septal Defect | Hyperhidrosis | ORPHA:1329 | |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 | Hyperhidrosis, Decreased response to growth hormone stimulation test | ORPHA:96182 | |
Stuve-Wiedemann Syndrome 1 | Hyperhidrosis | OMIM:601559 | |
Acute Intermittent Porphyria | Hyperhidrosis | ORPHA:79276 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii | Episodic hyperhidrosis | OMIM:223900 | |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult | Hyperhidrosis | OMIM:161700 | |
Monosomy 22 | Hyperhidrosis | ORPHA:96123 | |
Apert Syndrome | Hyperhidrosis | OMIM:101200 | |
Incontinentia Pigmenti | Hyperhidrosis | ORPHA:464 | |
Hereditary Fructose Intolerance | Episodic hyperhidrosis | ORPHA:469 | |
Alternating Hemiplegia Of Childhood | Hyperhidrosis | ORPHA:2131 | |
Fucosidosis | Anhidrosis | OMIM:230000 | |
Erdheim-Chester Disease | Hyperhidrosis | ORPHA:35687 | |
Congenital Disorder Of Deglycosylation 1 | Hyperhidrosis, Anhidrosis | OMIM:615273 | |
Kasabach-Merritt Syndrome | Hyperhidrosis | ORPHA:2330 | |
Hereditary Pheochromocytoma-Paraganglioma | Episodic hyperhidrosis | ORPHA:29072 | |
Pallister-Killian Syndrome | Anhidrosis, Hypohidrosis | OMIM:601803 | |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria | Hyperhidrosis | ORPHA:17 | |
Neuroleptic Malignant Syndrome | Hyperhidrosis | ORPHA:94093 | |
Congenital Ptosis | Anhidrosis | ORPHA:91411 | |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation | Hyperhidrosis, Hypothyroidism | ORPHA:453504 | |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion | Hyperhidrosis, Hypothyroidism | ORPHA:352665 | |
Dyskeratosis Congenita | Hyperhidrosis | ORPHA:1775 | |
Cocaine Intoxication | Hyperhidrosis | ORPHA:90068 | |
Multiple Endocrine Neoplasia Type 2 | Hyperhidrosis, Primary hyperparathyroidism | ORPHA:653 | |
Gitelman Syndrome | Graves disease, Hashimoto thyroiditis, Primary hyperaldosteronism, Hyperhidrosis | ORPHA:358 | |
Intellectual Developmental Disorder, Autosomal Dominant 54 | Anhidrosis | OMIM:617799 | |
Hemorrhagic Fever-Renal Syndrome | Hyperhidrosis | ORPHA:340 | |
Von Hippel-Lindau Disease | Hyperhidrosis, Pancreatic islet cell adenoma | ORPHA:892 | |
Scorpion Envenomation | Hyperhidrosis, Acute pancreatitis | ORPHA:466677 | |
Somatomammotropinoma | Anterior hypopituitarism, Hyperhidrosis, Increased circulating prolactin concentration, Elevated ... | ORPHA:314769 | |
Crimean-Congo Hemorrhagic Fever | Hyperhidrosis, Adrenal insufficiency, Acute pancreatitis, Parotitis, Orchitis | ORPHA:99827 | |
Acromegaly | Anterior hypopituitarism, Hyperhidrosis, Elevated circulating growth hormone concentration | ORPHA:963 | |
Brucellosis | Hyperhidrosis, Orchitis | ORPHA:1304 | |
Osteogenesis Imperfecta | Hyperhidrosis | ORPHA:666 | |
Dyskeratosis Congenita, X-Linked | Hyperhidrosis | OMIM:305000 | |
Cockayne Syndrome B | Anhidrosis | OMIM:133540 | |
Cockayne Syndrome A | Anhidrosis | OMIM:216400 | |
Hereditary Sensory And Autonomic Neuropathy Type 4 | Hyperhidrosis, Anhidrosis | ORPHA:642 | |
Cockayne Syndrome | Anhidrosis | ORPHA:191 | |
Exercise-Induced Malignant Hyperthermia | Anhidrosis | ORPHA:466650 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Itpr2tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Itpr2tm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
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