Gene: Scn11a MGI:1345149
Log in to followHuman diseases caused by Scn11a 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.
The table below shows human diseases associated to Scn11a by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Primary Erythromelalgia | Erythema | ORPHA:90026 | |
Episodic Pain Syndrome, Familial, 3 | OMIM:615552 | ||
Neuropathy, Hereditary Sensory And Autonomic, Type Vii | OMIM:615548 | ||
Paroxysmal Extreme Pain Disorder | ORPHA:46348 |
The table below shows human diseases predicted to be associated to Scn11a by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon | EEG abnormality | OMIM:130200 | |
Photoparoxysmal Response 1 | EEG with photoparoxysmal response | OMIM:132100 | |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups | EEG abnormality | OMIM:130300 | |
Epilepsy, Benign Occipital | EEG abnormality | OMIM:132090 | |
Epilepsy, Reading | EEG abnormality | OMIM:132300 | |
Schizophrenia | EEG abnormality | OMIM:181500 | |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia | Skin ulcer, Decreased motor nerve conduction velocity, Acral ulceration | ORPHA:139578 | |
Non-Epidermolytic Palmoplantar Keratoderma | Skin ulcer, Erythema | ORPHA:2337 | |
Proliferating Trichilemmal Cyst | Skin ulcer | ORPHA:492 | |
Dermatofibrosarcoma Protuberans | Skin ulcer, Erythema | ORPHA:31112 | |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection | Pyoderma gangrenosum | OMIM:619986 | |
Congenital Factor Xii Deficiency | Penetrating foot ulcers | ORPHA:330 | |
Chilblain Lupus 1 | Skin ulcer | OMIM:610448 | |
Flynn-Aird Syndrome | Skin ulcer, EEG abnormality | ORPHA:2047 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic | Skin ulcer, Decreased motor nerve conduction velocity | OMIM:613640 | |
Hereditary Sensory And Autonomic Neuropathy Type 1 | Skin ulcer, Decreased amplitude of sensory action potentials, Penetrating foot ulcers | ORPHA:36386 | |
Complex Regional Pain Syndrome | Allodynia | ORPHA:83452 | |
Buerger Disease | Skin ulcer | ORPHA:36258 | |
Classic Mycosis Fungoides | Skin ulcer, Erythema, Dry skin | ORPHA:2584 | |
Aplasia Cutis Congenita | Skin ulcer | ORPHA:1114 | |
Dracunculiasis | Skin ulcer | ORPHA:231 | |
Hyperkeratosis Lenticularis Perstans | Skin ulcer | ORPHA:409 | |
Acrogeria | Excessive wrinkled skin, Skin ulcer | ORPHA:2500 | |
Juvenile Hyaline Fibromatosis | Skin ulcer | ORPHA:2028 | |
Dermatoosteolysis, Kirghizian Type | Skin ulcer | OMIM:221810 | |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency | Skin ulcer, Purpura | ORPHA:743 | |
Aplasia Cutis-Myopia Syndrome | Skin ulcer | ORPHA:1117 | |
Chilblain Lupus | Skin ulcer | ORPHA:90280 | |
Necrobiosis Lipoidica | Skin ulcer, Erythema | ORPHA:542592 | |
Trigeminal Neuralgia | Allodynia | ORPHA:221091 | |
Reticular Dysgenesis | Skin ulcer | ORPHA:33355 | |
Limited Cutaneous Systemic Sclerosis | Skin ulcer | ORPHA:220402 | |
Ollier Disease | Skin ulcer | ORPHA:296 | |
Anterior Cutaneous Nerve Entrapment Syndrome | Allodynia | ORPHA:51890 | |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism | Penetrating foot ulcers, Decreased nerve conduction velocity | OMIM:118301 | |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome | Skin ulcer | ORPHA:2218 | |
Isolated Agammaglobulinemia | Skin ulcer | ORPHA:229717 | |
Beta-Thalassemia | Skin ulcer, Pallor | ORPHA:848 | |
Autosomal Dominant Epidermolytic Ichthyosis | Skin ulcer | ORPHA:312 | |
Combined Immunodeficiency Due To Dock8 Deficiency | Skin ulcer | ORPHA:217390 | |
Neurotrophic Keratopathy | Allodynia | ORPHA:137596 | |
Bare Lymphocyte Syndrome, Type I | Skin ulcer | OMIM:604571 | |
Leishmaniasis | Skin ulcer, Pallor | ORPHA:507 | |
Polyarteritis Nodosa | Skin ulcer, Erythema | ORPHA:767 | |
Free Sialic Acid Storage Disease | Skin ulcer | ORPHA:834 | |
Takayasu Arteritis | Skin ulcer | ORPHA:3287 | |
Pyoderma Gangrenosum | Skin ulcer, Skin vesicle | ORPHA:48104 | |
Brooke-Spiegler Syndrome | Skin ulcer | ORPHA:79493 | |
Adult Polyglucosan Body Disease | Skin ulcer | ORPHA:206583 | |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome | Skin ulcer | ORPHA:69126 | |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne | Pyoderma gangrenosum | OMIM:604416 | |
Cryoglobulinemic Vasculitis | Skin ulcer, Purpura, Petechiae | ORPHA:91138 | |
Lichen Planopilaris | Skin ulcer | ORPHA:525 | |
Dermatoosteolysis, Kirghizian Type | Skin ulcer | ORPHA:1657 | |
Attenuated Chédiak-Higashi Syndrome | Skin ulcer | ORPHA:352723 | |
Familial Multiple Nevi Flammei | Skin ulcer | ORPHA:624 | |
Immunodeficiency, Common Variable, 12, With Autoimmunity | Pyoderma gangrenosum | OMIM:616576 | |
Calciphylaxis | Skin ulcer | ORPHA:280062 | |
Squamous Cell Carcinoma Of The Anal Canal | Skin ulcer | ORPHA:424019 | |
Benign Schwannoma | Allodynia | ORPHA:252164 | |
X-Linked Agammaglobulinemia | Skin ulcer | ORPHA:47 | |
Prolidase Deficiency | Skin ulcer, Petechiae | OMIM:170100 | |
Infantile Myofibromatosis | Skin ulcer | ORPHA:2591 | |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques | Skin ulcer, Erythema | ORPHA:659 | |
Prolidase Deficiency | Skin ulcer, Erythema, Dry skin | ORPHA:742 | |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome | Pyoderma gangrenosum | OMIM:150550 | |
Acquired Purpura Fulminans | Macular purpura, Pyoderma gangrenosum | ORPHA:49566 | |
Familial Keratoacanthoma | Skin ulcer | ORPHA:493 | |
Subcutaneous Panniculitis-Like T-Cell Lymphoma | Skin ulcer | ORPHA:86884 | |
Autosomal Dominant Hyper-Ige Syndrome | Skin ulcer, Skin vesicle | ORPHA:2314 | |
Werner Syndrome | Skin ulcer, Lack of skin elasticity | ORPHA:902 | |
Reynolds Syndrome | Skin ulcer | ORPHA:779 | |
Neutrophilic Dermatosis, Acute Febrile | Erythema, Pyoderma gangrenosum | OMIM:608068 | |
Acrodermatitis Enteropathica | Skin ulcer, Erythema, Dry skin | ORPHA:37 | |
Ectodermal Dysplasia-Blindness Syndrome | Skin ulcer | ORPHA:1806 | |
Livedoid Vasculopathy | Skin ulcer, Macular purpura, Ecchymosis | ORPHA:542643 | |
Charcot-Marie-Tooth Disease Type 4B2 | Decreased distal sensory nerve action potential, Penetrating foot ulcers | ORPHA:99956 | |
Microscopic Polyangiitis | Skin ulcer, Erythema | ORPHA:727 | |
Hereditary Spherocytosis | Skin ulcer, Pallor | ORPHA:822 | |
Chronic Mucocutaneous Candidiasis | Skin ulcer, Erythema | ORPHA:1334 | |
Diffuse Cutaneous Systemic Sclerosis | Skin ulcer | ORPHA:220393 | |
Beta-Thalassemia Intermedia | Skin ulcer, Pallor | ORPHA:231222 | |
Infantile Systemic Hyalinosis | Skin ulcer | ORPHA:2176 | |
Autosomal Dominant Severe Congenital Neutropenia | Pyoderma gangrenosum | ORPHA:486 | |
Meige Disease | Skin ulcer | ORPHA:90186 | |
Dominant Beta-Thalassemia | Skin ulcer, Pallor | ORPHA:231226 | |
Giant Cell Arteritis | Skin ulcer | ORPHA:397 | |
Catastrophic Antiphospholipid Syndrome | Skin ulcer | ORPHA:464343 | |
Adult Syndrome | Skin ulcer, Dry skin | ORPHA:978 | |
Chronic Granulomatous Disease | Skin ulcer | ORPHA:379 | |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous | Skin ulcer | OMIM:245660 | |
Juvenile Dermatomyositis | Skin ulcer, Erythema, Dry skin | ORPHA:93672 | |
Beta-Thalassemia Major | Skin ulcer, Pallor | ORPHA:231214 | |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) | Allodynia | OMIM:603041 | |
Incontinentia Pigmenti | Skin ulcer, Erythema | ORPHA:464 | |
Pgm3-Cdg | Skin ulcer | ORPHA:443811 | |
Immunoglobulin A Vasculitis | Skin ulcer, Purpura, Erythema | ORPHA:761 | |
Cushing Disease | Purpura, Striae distensae, Ecchymosis, Skin ulcer, Fatiguable weakness of proximal limb muscles | ORPHA:96253 | |
Hereditary Acrokeratotic Poikiloderma | Skin ulcer, Erythema | ORPHA:2907 | |
Toxic Epidermal Necrolysis | Skin ulcer, Erythema | ORPHA:537 | |
Hajdu-Cheney Syndrome | Skin ulcer, Dry skin | ORPHA:955 | |
Dyskeratosis Congenita | Skin ulcer, Skin vesicle | ORPHA:1775 | |
Leukocyte Adhesion Deficiency, Type I | Skin ulcer | OMIM:116920 | |
Oculocerebrorenal Syndrome Of Lowe | Skin ulcer, EEG abnormality | ORPHA:534 | |
Granulomatosis With Polyangiitis | Skin ulcer | OMIM:608710 | |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome | Skin ulcer, Purpura | OMIM:615688 | |
Fusariosis | Skin ulcer | ORPHA:228119 | |
Wiskott-Aldrich Syndrome | Skin ulcer, Purpura, Petechiae | ORPHA:906 | |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome | Skin ulcer, Scaling skin, Dry skin | ORPHA:2526 | |
Sweet Syndrome | Skin vesicle, Pyoderma gangrenosum | ORPHA:3243 | |
Systemic Sclerosis | Acral ulceration, Digital ulcer | ORPHA:90291 | |
Chime Syndrome | Skin ulcer, Erythema | ORPHA:3474 | |
Parkes Weber Syndrome | Skin ulcer, Scaling skin | ORPHA:90307 | |
Amoebiasis Due To Free-Living Amoebae | Skin ulcer | ORPHA:68 | |
Malakoplakia | Skin ulcer | ORPHA:556 | |
Dermatomyositis | Skin ulcer, Erythema, Dry skin | ORPHA:221 | |
Granulomatosis With Polyangiitis | Skin ulcer, Purpura | ORPHA:900 | |
Primary Sjögren Syndrome | Skin ulcer, Purpura, Dry skin | ORPHA:289390 | |
Blau Syndrome | Skin ulcer | OMIM:186580 | |
Angioosteohypertrophic Syndrome | Skin ulcer | ORPHA:2346 | |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome | Skin ulcer, Ecchymosis | ORPHA:2072 | |
Atypical Werner Syndrome | Skin ulcer, Lack of skin elasticity | ORPHA:79474 | |
Cushing Syndrome Due To Ectopic Acth Secretion | Purpura, Striae distensae, Ecchymosis, Skin ulcer, Fatiguable weakness of proximal limb muscles | ORPHA:99889 | |
Blau Syndrome | Skin ulcer, Erythema, Dry skin | ORPHA:90340 | |
Adenocarcinoma Of The Anal Canal | Skin ulcer | ORPHA:424016 | |
Chronic Graft Versus Host Disease | Skin ulcer, Skin vesicle, Erythema | ORPHA:99921 | |
Leprosy | Penetrating foot ulcers, Acral ulceration | ORPHA:548 | |
Plague | Skin ulcer, Dry skin | ORPHA:707 | |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum | Skin ulcer | ORPHA:95455 | |
Leukocyte Adhesion Deficiency | Pyoderma gangrenosum | ORPHA:2968 | |
Split Cord Malformation | Penetrating foot ulcers | ORPHA:573278 | |
Primary Erythromelalgia | Erythema | ORPHA:90026 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii | OMIM:615548 | ||
Episodic Pain Syndrome, Familial, 3 | OMIM:615552 | ||
Paroxysmal Extreme Pain Disorder | ORPHA:46348 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Scn11aem1(IMPC)H | Exon Deletion | Mice |
Scn11aem2(IMPC)H | Exon Deletion | Mice |
Scn11atm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Scn11atm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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