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Gene: Scn9a MGI:107636

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sodium channel, voltage-gated, type IX, alpha
Synonyms:
PN1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Scn9a 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 Scn9a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Paroxysmal Extreme Pain Disorder
Seizure ORPHA:46348
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia, Urinary incontinence, Abnormal nerve conduction velocity OMIM:243000
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... ORPHA:33069
Primary Erythromelalgia
Pruritus ORPHA:90026
Erythermalgia, Primary
Pruritus, Keratoconjunctivitis sicca OMIM:133020
Hereditary Sensory And Autonomic Neuropathy Type 2
ORPHA:970
Paroxysmal Extreme Pain Disorder
OMIM:167400

The table below shows human diseases predicted to be associated to Scn9a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Epilepsy, Benign Occipital
EEG abnormality OMIM:132090
Epilepsy, Reading
EEG abnormality OMIM:132300
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pyknoachondrogenesis
Stillbirth OMIM:265880
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Ceroid Lipofuscinosis, Neuronal, 6A
Abnormal nervous system electrophysiology OMIM:601780
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Micropenis, Anosmia, Bifid nose OMIM:614838
Paroxysmal Extreme Pain Disorder
Seizure ORPHA:46348
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Micropenis, Anosmia OMIM:612702
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Micropenis, Anosmia OMIM:610628
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Hyposmia, Micropenis, Anosmia, Unilateral renal agenesis OMIM:244200
Indifference To Pain, Congenital, Autosomal Recessive
Hyposmia, Anosmia, Urinary incontinence, Abnormal nerve conduction velocity OMIM:243000
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose OMIM:302950
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Micropenis, Anosmia, Choanal atresia OMIM:147950
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Musk, Inability To Smell
Anosmia OMIM:254150
Body Mass Index Quantitative Trait Locus 19
Hyposmia, Anosmia OMIM:617885
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Peroxisome Biogenesis Disorder 9B
Anosmia, Total anosmia OMIM:614879
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Micropenis, Anosmia OMIM:614880
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Bardet-Biedl Syndrome 17
Polyuria, Anosmia, Stage 5 chronic kidney disease, Renal cyst, Hyposmia, Micropenis OMIM:615994
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Hyperostosis Cranialis Interna
Hyposmia, Anosmia OMIM:144755
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Micropenis, Anosmia OMIM:614897
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormal nostril morphology, Short nose, Hypoplasia of penis, Anosmia ORPHA:1295
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hyposmia OMIM:615266
Hypogonadotropic Hypogonadism 25 With Anosmia
Micropenis, Anosmia OMIM:618841
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Anosmia OMIM:601152
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Micropenis, Abnormality of the sense of smell OMIM:146110
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Decreased motor nerve conduction velocity OMIM:613724
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Anosmia, Bronchiectasis, Chronic rhinitis, Chronic otitis media, Chro... OMIM:244400
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hyposmia, Micropenis, Anosmia, Unilateral renal agenesis OMIM:308700
Pityriasis Rubra Pilaris
Pruritus, Pustule, Eczema, Erythroderma ORPHA:2897
Refsum Disease, Classic
Anosmia, Abnormal renal physiology OMIM:266500
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Anosmia OMIM:616030
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... OMIM:147250
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Micropenis, Anosmia OMIM:614841
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Anosmia, Unilateral renal agenesis OMIM:308750
Johnson Neuroectodermal Syndrome
Bulbous nose, Anosmia, Choanal atresia ORPHA:2316
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Micropenis, Anosmia OMIM:614837
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Kufor-Rakeb Syndrome
Hyposmia, Anosmia OMIM:606693
Refsum Disease
Renal insufficiency, Anosmia ORPHA:773
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell ORPHA:1135
Bardet-Biedl Syndrome 19
Hyposmia, Renal insufficiency, Renal hypoplasia, Hydronephrosis OMIM:615996
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Dysuria,... OMIM:618131
Alopecia-Intellectual Disability Syndrome 4
Micropenis, Hypospadias, Erythroderma OMIM:618840
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anosmia ORPHA:3157
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ... ORPHA:139402
Ichthyosis Prematurity Syndrome
Pruritus, Allergic rhinitis, Erythroderma OMIM:608649
Kallmann Syndrome
Hyposmia, Hypoplasia of penis, Anosmia, Micropenis ORPHA:478
Isolated Follicle Stimulating Hormone Deficiency
Anosmia ORPHA:52901
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma ORPHA:169160
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Chronic rhinitis, Erythroderma OMIM:256500
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Anteverted nares, Choanal atresia, Pr... ORPHA:2162
Netherton Syndrome
Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis ORPHA:634
Congenital Ichthyosiform Erythroderma
Keratitis, Erythroderma, Pruritus ORPHA:79394
Kallmann Syndrome-Heart Disease Syndrome
Micropenis, Partial anosmia, Total anosmia ORPHA:2326
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Blepharitis, Erythroderma OMIM:614328
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anosmia, Single naris, Absent nares, Hyposmia ORPHA:2250
Lamellar Ichthyosis
Chronic otitis media, Renal insufficiency, Pruritus, Erythroderma ORPHA:313
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Aural Atresia, Congenital
Hyposmia OMIM:607842
Huntington Disease
Abnormality of the sense of smell ORPHA:399
8P11.2 Deletion Syndrome
Anosmia, Hypoplasia of penis, Depressed nasal bridge ORPHA:251066
Peeling Skin Syndrome 1
Pruritus, Erythroderma OMIM:270300
Congenital Disorder Of Glycosylation, Type If
Hypsarrhythmia, Renal cortical cysts, Erythroderma OMIM:609180
Pemphigus Foliaceus
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Epidermolytic Hyperkeratosis 2
Erythroderma OMIM:620150
Omenn Syndrome
Pneumonia, Pruritus, Thyroiditis, Nephrotic syndrome, Erythroderma ORPHA:39041
Gorlin Syndrome
Wide nasal bridge, Abnormality of the sense of smell ORPHA:377
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Absent brainstem auditory responses, Anosmia OMIM:609136
Superficial Siderosis
Functional abnormality of the bladder, Anosmia, Partial anosmia ORPHA:247245
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Thyroiditis, Erythroderma, Concave nasal ridge, Chronic oral can... OMIM:606367
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Harlequin Ichthyosis
Depressed nasal ridge, Erythroderma ORPHA:457
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis, Abnormal rena... ORPHA:540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma OMIM:304790
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Micropenis, Anosmia, Hypospadias OMIM:619718
Generalized Pustular Psoriasis
Renal insufficiency, Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma ORPHA:247353
Marcus-Gunn Syndrome
Nephrolithiasis, Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Erythroderma OMIM:602540
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma OMIM:619510
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Wide nose, Eczema, Underdeveloped nasal alae, Abnormality of the sense of smell ORPHA:284160
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Ichthyosis With Confetti
Pruritus, Erythroderma OMIM:609165
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia, Recurrent skin infections OMIM:616488
Sézary Syndrome
Pruritus, Erythroderma ORPHA:3162
Immunodeficiency 25
Recurrent pneumonia, Erythroderma OMIM:610163
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Choanal atresia, Anosmia, Aplasia of the nose, Micropenis OMIM:603457
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Kleine-Levin Syndrome
Parosmia ORPHA:33543
X-Linked Dominant Chondrodysplasia Punctata
Depressed nasal bridge, Hydronephrosis, Erythroderma ORPHA:35173
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:79456
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Micropenis, Abnormality of the sense of smell OMIM:228300
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Erythroderma ORPHA:169154
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Depressed nasal bridge, Broad nasal tip, Prominent nose, Erythroderma OMIM:617425
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Trigeminal Neuralgia
Allodynia ORPHA:221091
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, E... OMIM:615508
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Inflammation of the large intestine, Erythroderma, Vesicoureteral reflux OMIM:615895
Charge Syndrome
Depressed nasal bridge, Choanal atresia, Anosmia, Horseshoe kidney, Vesicoureteral reflux, Microp... ORPHA:138
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Erythroderma OMIM:242150
Lacrimoauriculodentodigital Syndrome
Choanal atresia, Anosmia, Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis... ORPHA:2363
Chondrodysplasia Punctata 2, X-Linked Dominant
Concave nasal ridge, Hydronephrosis, Erythroderma OMIM:302960
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Organic aciduria, Conjunctivitis OMIM:253260
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Neurotrophic Keratopathy
Anterior uveitis, Allodynia ORPHA:137596
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Short nose, Erythroderma OMIM:601675
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Campomelic Dysplasia
Depressed nasal bridge, Hydronephrosis, Abnormality of the sense of smell ORPHA:140
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Acne, Seborrheic dermatitis OMIM:167100
Transketolase Deficiency
Increased level of ribose in urine, Seborrheic dermatitis, Renal cyst, Uveitis, Conjunctivitis ORPHA:488618
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Wilson Disease
Hyperphosphaturia, Proteinuria, Decreased nerve conduction velocity, Osteoarthritis, Atypical or ... OMIM:277900
Polyendocrine-Polyneuropathy Syndrome
Abnormality of the sense of smell OMIM:616113
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Chronic hepatitis, Arthritis... ORPHA:3260
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Arthritis, Eczematoid dermatitis ORPHA:2796
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Arthritis, Eczematoid dermatitis, Seborrheic dermatitis OMIM:259100
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Ketonuria, Hyperglycinuria, Organic aciduria, Seborrheic dermatitis OMIM:210210
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
Letterer-Siwe Disease
Stomatitis, Seborrheic dermatitis OMIM:246400
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Hyposmia, Infectious encephalitis ORPHA:68
Moebius Syndrome
Blepharitis, Abnormality of the sense of smell ORPHA:570
Benign Schwannoma
Nasal polyposis, Allodynia, Abnormality of peripheral nervous system electrophysiology ORPHA:252164
Charge Syndrome
Choanal atresia, Anosmia, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydronephrosis OMIM:214800
Monosomy 22
Wide nose, Prominent nasolabial fold, Micropenis, Seborrheic dermatitis ORPHA:96123
Young-Onset Parkinson Disease
Hyposmia ORPHA:2828
Trichothiodystrophy
Congenital exfoliative erythroderma, Keratoconjunctivitis sicca, Conjunctivitis, Eczema ORPHA:33364
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Depressed nasal bridge, Anteverted nares, Seborrheic dermatitis, Hypsarrhythmia, Vesicoureteral r... OMIM:300868
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Enuresis, Convex nasal ridge, Eczema, Seborrheic dermatitis ORPHA:369950
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Hyposmia, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Pruritus,... ORPHA:83617
Hereditary Late-Onset Parkinson Disease
Hyposmia, Spastic/hyperactive bladder ORPHA:411602
22Q11.2 Deletion Syndrome
Acne, Choanal atresia, Prominent nasal bridge, Seborrheic dermatitis, Hypospadias, Bulbous nose, ... ORPHA:567
Occipital Horn Syndrome
Bladder diverticulum, Hepatitis, Esophagitis, Abnormality of the sense of smell ORPHA:198
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Recurrent skin infections, Eczema, Hypospadias, Unilateral renal ag... OMIM:308205
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Anteverted nares, Seborrheic dermatitis, Horseshoe kidney, Vesicoureteral r... OMIM:274000
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Depressed nasal ridge, Hyposmia, Micropenis OMIM:151100
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Meningioma
Urinary incontinence, Abnormality of the sense of smell ORPHA:2495
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Seborrheic dermatitis ORPHA:276280
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
Dravet Syndrome
Epilepsia partialis continua, Generalized myoclonic seizure, Photosensitive tonic-clonic seizure,... ORPHA:33069
Digeorge Syndrome
Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Recurrent pneumonia,... OMIM:188400
Progressive Supranuclear Palsy
Abnormal synaptic transmission ORPHA:683
Primary Erythromelalgia
Pruritus ORPHA:90026
Erythermalgia, Primary
Pruritus, Keratoconjunctivitis sicca OMIM:133020
Hereditary Sensory And Autonomic Neuropathy Type 2
ORPHA:970
Paroxysmal Extreme Pain Disorder
OMIM:167400

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 Scn9a

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 Scn9a.

No publications found that use IMPC mice or data for Scn9a.

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