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 | Decreased motor nerve conduction velocity, Skin ulcer, Acral ulceration | ORPHA:139578 | |
Non-Epidermolytic Palmoplantar Keratoderma | Erythema, Skin ulcer | ORPHA:2337 | |
Chilblain Lupus 1 | Skin ulcer | OMIM:610448 | |
Proliferating Trichilemmal Cyst | Skin ulcer | ORPHA:492 | |
Dermatofibrosarcoma Protuberans | Erythema, Skin ulcer | ORPHA:31112 | |
Laryngoonychocutaneous Syndrome | Skin ulcer | OMIM:245660 | |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic | Decreased motor nerve conduction velocity, Skin ulcer | OMIM:613640 | |
Flynn-Aird Syndrome | Skin ulcer, EEG abnormality | ORPHA:2047 | |
Hereditary Sensory And Autonomic Neuropathy Type 1 | Penetrating foot ulcers, Skin ulcer, Decreased amplitude of sensory action potentials | ORPHA:36386 | |
Complex Regional Pain Syndrome | Allodynia | ORPHA:83452 | |
Buerger Disease | Skin ulcer | ORPHA:36258 | |
Classic Mycosis Fungoides | Dry skin, Erythema, Skin ulcer | 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 | |
Chilblain Lupus | Skin ulcer | ORPHA:90280 | |
Necrobiosis Lipoidica | Erythema, Skin ulcer | ORPHA:542592 | |
Trigeminal Neuralgia | Allodynia | ORPHA:221091 | |
Congenital Factor Xii Deficiency | Penetrating foot ulcers | ORPHA:330 | |
Aplasia Cutis-Myopia Syndrome | Skin ulcer | ORPHA:1117 | |
Reticular Dysgenesis | Skin ulcer | ORPHA:33355 | |
Limited Cutaneous Systemic Sclerosis | Skin ulcer | ORPHA:220402 | |
Ollier Disease | Skin ulcer | ORPHA:296 | |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism | Penetrating foot ulcers, Decreased nerve conduction velocity | OMIM:118301 | |
Anterior Cutaneous Nerve Entrapment Syndrome | Allodynia | ORPHA:51890 | |
Immunodeficiency, Common Variable, 12, With Autoimmunity | Pyoderma gangrenosum | OMIM:616576 | |
Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:848 | |
Isolated Agammaglobulinemia | Skin ulcer | ORPHA:229717 | |
Combined Immunodeficiency Due To Dock8 Deficiency | Skin ulcer | ORPHA:217390 | |
Autosomal Dominant Epidermolytic Ichthyosis | Skin ulcer | ORPHA:312 | |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome | Skin ulcer | ORPHA:2218 | |
Leishmaniasis | Pallor, Skin ulcer | ORPHA:507 | |
Polyarteritis Nodosa | Erythema, Skin ulcer | ORPHA:767 | |
Bare Lymphocyte Syndrome, Type I | Skin ulcer | OMIM:604571 | |
Neurotrophic Keratopathy | Allodynia | ORPHA:137596 | |
Takayasu Arteritis | Skin ulcer | ORPHA:3287 | |
Pyoderma Gangrenosum | Skin ulcer, Skin vesicle | ORPHA:48104 | |
Brooke-Spiegler Syndrome | Skin ulcer | ORPHA:79493 | |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome | Skin ulcer | ORPHA:69126 | |
Cryoglobulinemic Vasculitis | Purpura, Skin ulcer, Petechiae | ORPHA:91138 | |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne | Pyoderma gangrenosum | OMIM:604416 | |
Adult Polyglucosan Body Disease | Skin ulcer | ORPHA:206583 | |
Lichen Planopilaris | Skin ulcer | ORPHA:525 | |
Attenuated Chédiak-Higashi Syndrome | Skin ulcer | ORPHA:352723 | |
Dermatoosteolysis, Kirghizian Type | Skin ulcer | ORPHA:1657 | |
Familial Multiple Nevi Flammei | Skin ulcer | ORPHA:624 | |
Calciphylaxis | Skin ulcer | ORPHA:280062 | |
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type | Penetrating foot ulcers | OMIM:118230 | |
Benign Schwannoma | Allodynia | ORPHA:252164 | |
Squamous Cell Carcinoma Of The Anal Canal | Skin ulcer | ORPHA:424019 | |
Prolidase Deficiency | Skin ulcer, Petechiae | OMIM:170100 | |
Infantile Myofibromatosis | Skin ulcer | ORPHA:2591 | |
X-Linked Agammaglobulinemia | Skin ulcer | ORPHA:47 | |
Free Sialic Acid Storage Disease | Skin ulcer | ORPHA:834 | |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques | Erythema, Skin ulcer | ORPHA:659 | |
Prolidase Deficiency | Dry skin, Erythema, Skin ulcer | ORPHA:742 | |
Familial Keratoacanthoma | Skin ulcer | ORPHA:493 | |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome | Pyoderma gangrenosum | OMIM:150550 | |
Autosomal Dominant Hyper-Ige Syndrome | Skin ulcer, Skin vesicle | ORPHA:2314 | |
Acquired Purpura Fulminans | Pyoderma gangrenosum, Macular purpura | ORPHA:49566 | |
Subcutaneous Panniculitis-Like T-Cell Lymphoma | Skin ulcer | ORPHA:86884 | |
Reynolds Syndrome | Skin ulcer | ORPHA:779 | |
Acrodermatitis Enteropathica | Dry skin, Erythema, Skin ulcer | ORPHA:37 | |
Neutrophilic Dermatosis, Acute Febrile | Pyoderma gangrenosum, Erythema | OMIM:608068 | |
Livedoid Vasculopathy | Ecchymosis, Skin ulcer, Macular purpura | ORPHA:542643 | |
Charcot-Marie-Tooth Disease Type 4B2 | Penetrating foot ulcers, Decreased distal sensory nerve action potential | ORPHA:99956 | |
Ectodermal Dysplasia-Blindness Syndrome | Skin ulcer | ORPHA:1806 | |
Hereditary Spherocytosis | Pallor, Skin ulcer | ORPHA:822 | |
Microscopic Polyangiitis | Erythema, Skin ulcer | ORPHA:727 | |
Chronic Mucocutaneous Candidiasis | Erythema, Skin ulcer | ORPHA:1334 | |
Diffuse Cutaneous Systemic Sclerosis | Skin ulcer | ORPHA:220393 | |
Beta-Thalassemia Intermedia | Pallor, Skin ulcer | ORPHA:231222 | |
Werner Syndrome | Lack of skin elasticity, Skin ulcer | ORPHA:902 | |
Infantile Systemic Hyalinosis | Skin ulcer | ORPHA:2176 | |
Meige Disease | Skin ulcer | ORPHA:90186 | |
Dominant Beta-Thalassemia | Pallor, Skin ulcer | ORPHA:231226 | |
Autosomal Dominant Severe Congenital Neutropenia | Pyoderma gangrenosum | ORPHA:486 | |
Adult Syndrome | Dry skin, Skin ulcer | ORPHA:978 | |
Chronic Granulomatous Disease | Skin ulcer | ORPHA:379 | |
Giant Cell Arteritis | Skin ulcer | ORPHA:397 | |
Juvenile Dermatomyositis | Dry skin, Erythema, Skin ulcer | ORPHA:93672 | |
Catastrophic Antiphospholipid Syndrome | Skin ulcer | ORPHA:464343 | |
Beta-Thalassemia Major | Pallor, Skin ulcer | ORPHA:231214 | |
Incontinentia Pigmenti | Erythema, Skin ulcer | ORPHA:464 | |
Pgm3-Cdg | Skin ulcer | ORPHA:443811 | |
Leukocyte Adhesion Deficiency, Type I | Skin ulcer | OMIM:116920 | |
Immunoglobulin A Vasculitis | Purpura, Erythema, Skin ulcer | ORPHA:761 | |
Cushing Disease | Fatiguable weakness of proximal limb muscles, Ecchymosis, Striae distensae, Purpura, Skin ulcer | ORPHA:96253 | |
Toxic Epidermal Necrolysis | Erythema, Skin ulcer | ORPHA:537 | |
Oculocerebrorenal Syndrome Of Lowe | Skin ulcer, EEG abnormality | ORPHA:534 | |
Hereditary Acrokeratotic Poikiloderma | Erythema, Skin ulcer | ORPHA:2907 | |
Hajdu-Cheney Syndrome | Dry skin, Skin ulcer | ORPHA:955 | |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome | Purpura, Skin ulcer | OMIM:615688 | |
Granulomatosis With Polyangiitis | Skin ulcer | OMIM:608710 | |
Fusariosis | Skin ulcer | ORPHA:228119 | |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome | Dry skin, Scaling skin, Skin ulcer | ORPHA:2526 | |
Wiskott-Aldrich Syndrome | Purpura, Skin ulcer, Petechiae | ORPHA:906 | |
Amoebiasis Due To Free-Living Amoebae | Skin ulcer | ORPHA:68 | |
Systemic Sclerosis | Digital ulcer, Acral ulceration | ORPHA:90291 | |
Dyskeratosis Congenita | Skin ulcer, Skin vesicle | ORPHA:1775 | |
Malakoplakia | Skin ulcer | ORPHA:556 | |
Sweet Syndrome | Pyoderma gangrenosum, Skin vesicle | ORPHA:3243 | |
Chime Syndrome | Erythema, Skin ulcer | ORPHA:3474 | |
Parkes Weber Syndrome | Scaling skin, Skin ulcer | ORPHA:90307 | |
Dermatomyositis | Dry skin, Erythema, Skin ulcer | ORPHA:221 | |
Granulomatosis With Polyangiitis | Purpura, Skin ulcer | ORPHA:900 | |
Primary Sjögren Syndrome | Dry skin, Purpura, Skin ulcer | ORPHA:289390 | |
Blau Syndrome | Skin ulcer | OMIM:186580 | |
Angioosteohypertrophic Syndrome | Skin ulcer | ORPHA:2346 | |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome | Ecchymosis, Skin ulcer | ORPHA:2072 | |
Cushing Syndrome Due To Ectopic Acth Secretion | Fatiguable weakness of proximal limb muscles, Ecchymosis, Striae distensae, Purpura, Skin ulcer | ORPHA:99889 | |
Blau Syndrome | Dry skin, Erythema, Skin ulcer | ORPHA:90340 | |
Adenocarcinoma Of The Anal Canal | Skin ulcer | ORPHA:424016 | |
Chronic Graft Versus Host Disease | Erythema, Skin ulcer, Skin vesicle | ORPHA:99921 | |
Atypical Werner Syndrome | Lack of skin elasticity, Skin ulcer | ORPHA:79474 | |
Leprosy | Penetrating foot ulcers, Acral ulceration | ORPHA:548 | |
Plague | Dry skin, Skin ulcer | 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 | |
Episodic Pain Syndrome, Familial, 3 | OMIM:615552 | ||
Paroxysmal Extreme Pain Disorder | ORPHA:46348 | ||
Neuropathy, Hereditary Sensory And Autonomic, Type Vii | OMIM:615548 |
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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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