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Gene: Bcas1 MGI:1924210

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Gene Summary

Name:
brain enriched myelin associated protein 1
Synonyms:
NABC1,  2210416M21Rik,  breast carcinoma amplified sequence 1,  9030223A09Rik

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lung morphology Bcas1em1(IMPC)Tcp HOM Early adult 0.00

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel B FCS file(s)

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Immunophenotyping

Panel A FCS file(s)

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Eye Morphology

Images Ophthalmoscopy

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Human diseases caused by Bcas1 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 Bcas1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Immunodeficiency 37
Colitis, Recurrent infections, Infectious encephalitis OMIM:616098
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Meningitis, Herpes simplex encephalitis OMIM:617900
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5
Herpes simplex encephalitis OMIM:614849
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination ORPHA:88637
C1Q Deficiency 3
Discoid lupus rash, Recurrent bacterial meningitis OMIM:620322
Charcot-Marie-Tooth Disease, Type 4A
CNS hypomyelination, Basal lamina onion bulb formation, Decreased number of peripheral myelinated... OMIM:214400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Usual interstitial pneumonia, Pulmonary fibrosis OMIM:616373
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Cerebral hypomyelination, CNS hypomyelination, Hyperactivity ORPHA:369939
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis, CNS hypomyelination OMIM:620425
Immunodeficiency 83, Susceptibility To Viral Infections
Meningitis, Herpes simplex encephalitis OMIM:613002
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Null Syndrome
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy ORPHA:280234
Nipah Virus Disease
Recurrent pharyngitis, Anorexia, Infectious encephalitis ORPHA:99825
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Aggressive behavior, CNS hypomyelination, Hyperactivity OMIM:620023
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Recurrent infections,... OMIM:618982
Familial Spontaneous Pneumothorax
Abnormal pleura morphology, Pneumothorax ORPHA:2903
Leukodystrophy, Hypomyelinating, 11
CNS hypomyelination, Leukodystrophy OMIM:616494
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob... ORPHA:66624
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Leukodystrophy, Childhood-Onset, Remitting
Leukodystrophy, Irritability OMIM:619864
Kaya-Barakat-Masson Syndrome
CNS hypomyelination, Irritability OMIM:619125
Zika Virus Disease
Myelitis, Skin rash, Infectious encephalitis, Acute demyelinating polyneuropathy, Meningitis, Art... ORPHA:448237
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Delayed CNS myelination, Hyperactivity OMIM:619031
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
CNS hypomyelination, Irritability OMIM:615281
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Recurrent aphthous stomatitis, Herpes simplex encephalitis OMIM:614850
Pfapa Syndrome
Recurrent pharyngitis, Arthritis, Infectious encephalitis ORPHA:42642
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent enteroviral infections, Conjunctivitis, Enteroviral dermatomyositis syndrome... OMIM:307200
Leukoencephalopathy With Vanishing White Matter 1
Cerebral hypomyelination, CNS demyelination, Emotional lability OMIM:603896
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy OMIM:617560
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination OMIM:619688
Neurodevelopmental Disorder With Language Delay And Seizures
Attention deficit hyperactivity disorder, CNS hypomyelination, Obsessive-compulsive trait OMIM:619908
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Invasive pulmonary aspergillosis, Osteomy... ORPHA:1163
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Leukodystrophy, Hypomyelinating, 15
CNS hypomyelination, Dysphagia, Leukodystrophy OMIM:617951
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy OMIM:616370
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy ORPHA:527497
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination OMIM:618559
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
CNS hypomyelination, Dysphagia, Leukodystrophy OMIM:607694
Pneumothorax, Primary Spontaneous
Spontaneous pneumothorax OMIM:173600
Pulmonary Bullae Causing Pneumothorax
Repeated pneumothoraces OMIM:265200
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
CNS hypomyelination, Recurrent hand flapping, Emotional lability, Aggressive behavior, Attention ... OMIM:619580
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Severe Epstein Barr virus infection, Recurrent pharyngitis, Meningitis, ... OMIM:308240
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination OMIM:618557
Folinic Acid-Responsive Seizures
Cerebral hypomyelination, Delayed myelination, Irritability ORPHA:79097
Adenylosuccinase Deficiency
CNS hypomyelination, Inappropriate laughter, Self-mutilation, Aggressive behavior, Cerebral hypom... OMIM:103050
Pelizaeus-Merzbacher Disease
Depression, CNS hypomyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Dysphagia... OMIM:312080
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Ddost-Cdg
CNS hypomyelination, Recurrent ear infections ORPHA:300536
Scrub Typhus
Skin rash, Infectious encephalitis, Myocarditis, Meningitis, Anterior uveitis ORPHA:83317
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination OMIM:300475
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, CNS hypomyelination OMIM:616158
Lyme Disease
Meningitis, Infectious encephalitis, Arthritis, Uveitis ORPHA:91546
Hartnup Disease
Emotional lability, Skin rash, Infectious encephalitis ORPHA:2116
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, CNS hypomyelination OMIM:616577
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination OMIM:619328
Bacterial Toxic-Shock Syndrome
Pneumonia, Severe varicella zoster infection, Hepatitis, Severe viral infection, Recurrent urinar... ORPHA:36234
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin... OMIM:614379
Developmental And Epileptic Encephalopathy 5
CNS hypomyelination OMIM:613477
Meningococcal Meningitis
Anorexia, Irritability, Skin rash, Infectious encephalitis ORPHA:33475
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral hypomyelination, CNS hypomyelination, Dysphagia, Leukodystrophy OMIM:614381
Tremor-Ataxia-Central Hypomyelination Syndrome
CNS hypomyelination, Dysphagia, Leukodystrophy ORPHA:447896
Poliomyelitis
Myelitis, Infectious encephalitis, Irritability, Dysphagia, Anorexia, Meningitis, Fatigable weakn... ORPHA:2912
Leukodystrophy, Hypomyelinating, 5
CNS hypomyelination, Onion bulb formation, Leukodystrophy OMIM:610532
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination OMIM:615760
Congenital Enterovirus Infection
Hepatitis, Skin rash, Infectious encephalitis, Irritability, Myocarditis, Meningitis ORPHA:292
Whipple Disease
Depression, Polydipsia, Infectious encephalitis, Myositis, Arthritis, Anorexia, Myocarditis, Peri... ORPHA:3452
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Cerebral Visual Impairment
Meningitis, Attention deficit hyperactivity disorder, Unusual CNS infection, Infectious encephalitis ORPHA:447788
Legionnaires Disease
Hepatitis, Anorexia, Infectious encephalitis, Pancreatitis, Recurrent pharyngitis, Myocarditis, E... ORPHA:549
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Hereditary Methemoglobinemia
Cerebral hypomyelination, Delayed myelination ORPHA:621
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, Irritability, Infectious encephalitis, CNS demyelination, Meningitis OMIM:603553
Lymphoproliferative Syndrome 2
Recurrent pneumonia, EBV meningitis, EBV encephalitis, Severe varicella zoster infection, Recurre... OMIM:615122
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Aggressive behavior, Severe demyelination of the white matter, CNS hypomyelination, Irritability ORPHA:481152
Glutamine Deficiency, Congenital
Recurrent respiratory infections, CNS hypomyelination OMIM:610015
Spastic Paraplegia 44, Autosomal Recessive
CNS hypomyelination OMIM:613206
Reynolds Syndrome
Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis, Dysphagia ORPHA:779
Acute Disseminated Encephalomyelitis
Post-vaccination measles, Myelitis, Herpes simplex encephalitis, Severe parainfluenza infection, ... ORPHA:83597
4H Leukodystrophy
Cerebral hypomyelination, Dysphagia ORPHA:289494
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Enteroviral dermatomyositis syndrome, Recurr... OMIM:300755
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Cerebral hypomyelination, Leukodystrophy OMIM:608804
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, CNS hypomyelination, Arthritis OMIM:619423
Leukodystrophy, Hypomyelinating, 10
CNS hypomyelination, Leukodystrophy OMIM:616420
Giant Axonal Neuropathy
CNS hypomyelination ORPHA:643
Leukodystrophy, Hypomyelinating, 6
Cerebral hypomyelination, Leukodystrophy OMIM:612438
Developmental And Epileptic Encephalopathy 93
CNS hypomyelination OMIM:618012
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukodystrophy OMIM:614561
Alg2-Cdg
Cerebral hypomyelination ORPHA:79326
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, CNS hypomyelination OMIM:615966
Orofaciodigital Syndrome Xvii
CNS hypomyelination OMIM:617926
Listeriosis
Pneumonia, Unusual CNS infection, Arteritis, Unusual skin infection, Septic arthritis, Brain absc... ORPHA:533
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
CNS hypomyelination, Dysphagia, Leukodystrophy OMIM:619576
Tremor, Hereditary Essential, 6
Leukodystrophy OMIM:618866
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Infectious encephalitis, Conjunctivitis, Meningitis ORPHA:454836
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy OMIM:619196
Huppke-Brendel Syndrome
CNS hypomyelination OMIM:614482
Nocardiosis
Pneumonia, Unusual CNS infection, Lymphadenitis, Cutaneous abscess, Keratitis, Brain abscess, Ost... ORPHA:31204
Spasticity, Childhood-Onset, With Hyperglycinemia
Leukodystrophy OMIM:616859
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
CNS hypomyelination OMIM:619286
Developmental And Epileptic Encephalopathy 75
CNS hypomyelination OMIM:618437
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Lissencephaly 8
Cerebral hypomyelination OMIM:617255
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy OMIM:617613
American Trypanosomiasis
Myocarditis, Skin rash, Infectious encephalitis ORPHA:3386
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Anorexia, Endocarditis, Osteomyelitis, Myositis... ORPHA:2552
Multiple Sclerosis, Susceptibility To
Depression, CNS demyelination, Emotional lability OMIM:126200
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Q Fever
Pneumonia, Unusual infection, Hepatitis, Osteomyelitis, Cholecystitis, Infectious encephalitis, A... ORPHA:781
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Delayed CNS myelination, CNS hypomyelination OMIM:619260
Microcephaly-Capillary Malformation Syndrome
CNS hypomyelination, Delayed myelination OMIM:614261
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Juvenile Amyotrophic Lateral Sclerosis
CNS hypomyelination, Dysphagia, Amyotrophic lateral sclerosis ORPHA:300605
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Delayed CNS myelination OMIM:612164
Hemophagocytic Lymphohistiocytosis, Familial, 1
Meningitis, Irritability, Infectious encephalitis OMIM:267700
Gm1 Gangliosidosis
Aspiration pneumonia, Oral aversion, Infectious encephalitis, Recurrent respiratory infections, D... ORPHA:354
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination OMIM:618186
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Recurrent infections, CNS hypomyelination, Dysphagia, Self-mutilation OMIM:618922
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Otitis media, Recurrent opportuni... OMIM:601457
Retinal Dystrophy With Leukodystrophy
CNS hypomyelination OMIM:618863
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
CNS hypomyelination OMIM:618622
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic tinea infection, Phaeohyphomycosis, Onychomycosis, Meningitis, Deep dermatophytosis, Chro... OMIM:212050
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapular exanthema ORPHA:540
Peroxisomal Acyl-Coa Oxidase Deficiency
CNS demyelination, Dysphagia, Leukodystrophy, Irritability OMIM:264470
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral hypomyelination, Pseudobulbar paralysis ORPHA:438114
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Aicardi-Goutieres Syndrome 6
Chilblains, Leukodystrophy, Irritability OMIM:615010
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination OMIM:616239
Scedosporiosis
Pneumonia, Unusual CNS infection, Unusual skin infection, Invasive fungal infection, Septic arthr... ORPHA:449280
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis... ORPHA:117
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Cerebral hypomyelination, Chronic otitis media OMIM:612949
Zygomycosis
Nephritis, Unusual skin infection, Invasive fungal infection, Hepatitis, Brain abscess, Fasciitis... ORPHA:73263
Combined Oxidative Phosphorylation Deficiency 11
CNS hypomyelination, Delayed myelination OMIM:614922
Japanese Encephalitis
Paucity of anterior horn motor neurons, Meningitis, Anorexia, Infectious encephalitis ORPHA:79139
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Hepatitis, Enteroviral encephalitis, Sclerosing cholangitis, Meni... OMIM:308230
Pelizaeus-Merzbacher Disease In Female Carriers
CNS hypomyelination ORPHA:280229
Developmental And Epileptic Encephalopathy 29
CNS hypomyelination OMIM:616339
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, CNS hypomyelination, Leukodystrophy, Dysphagia, Bronchiectasis OMIM:619708
Alexander Disease
Self-injurious behavior, Depression, Emotional lability, Infectious encephalitis, Dysphagia ORPHA:58
Mitochondrial Complex I Deficiency, Nuclear Type 15
CNS demyelination, Irritability OMIM:618237
Leukodystrophy, Hypomyelinating, 12
Cerebral hypomyelination, Delayed myelination OMIM:616683
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Depression, Infectious encephalitis, Recurrent urinary tract infections ORPHA:847
S-Adenosylhomocysteine Hydrolase Deficiency
CNS hypomyelination, Delayed myelination ORPHA:88618
Sandhoff Disease, Infantile Form
CNS hypomyelination ORPHA:309155
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Irritability, Cerebral hypomyelination, Delayed CNS myelination, Dysphagia OMIM:618367
Rift Valley Fever
Severe viral infection, Hepatitis, Skin rash, Infectious encephalitis, Anorexia, Uveitis ORPHA:319251
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis, Anorexia ORPHA:761
Brucellosis
Pneumonia, Hip osteoarthritis, Arteritis, Depression, Sacroiliac arthritis, Osteomyelitis, Anorex... ORPHA:1304
Aicardi-Goutieres Syndrome 5
Chilblains, Leukodystrophy, Irritability OMIM:612952
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... ORPHA:391487
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
CNS hypomyelination OMIM:618527
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral hypomyelination, Esophagitis, Delayed myelination, Irritability ORPHA:79351
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Cerebral hypomyelination, Dysphagia, Hyperactivity, Recurrent respira... ORPHA:447997
Combined Saposin Deficiency
CNS demyelination OMIM:611721
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Meningitis, Cutaneo... ORPHA:331235
Immunodeficiency 46
Conjunctivitis, Meningitis, Recurrent sinopulmonary infections, Chronic oral candidiasis OMIM:616740
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Unusual skin infection, Infectious encephalitis, Pustule, Irritability, Sinusitis, Res... ORPHA:68
Incontinentia Pigmenti
Keratitis, Skin rash, Infectious encephalitis, Attention deficit hyperactivity disorder, Uveitis ORPHA:464
Developmental And Epileptic Encephalopathy 71
CNS demyelination OMIM:618328
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Recurrent bronchitis, Recurrent sinu... OMIM:240500
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination ORPHA:280210
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
CNS hypomyelination OMIM:617193
Isolated Agammaglobulinemia
Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Me... ORPHA:229717
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, CNS demyelination, Dysphagia OMIM:249900
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Depression, CNS demyelination, Dysphagia OMIM:221820
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, CNS hypomyelination, Recurrent hand flapping, Anorexia, Compulsive beha... ORPHA:3008
Chikungunya
Depression, Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, Synovitis, Arth... ORPHA:324625
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent meningococc... OMIM:610984
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Cerebral hypomyelination, Motor stereotypy, Recurrent pneumonia ORPHA:496641
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Cerebral hypomyelination, Motor stereotypy ORPHA:457351
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
CNS demyelination, Disinhibition OMIM:618193
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Arthritis,... ORPHA:33110
Marbach-Rustad Progeroid Syndrome
CNS hypomyelination OMIM:619322
Neonatal Alloimmune Neutropenia
Pneumonia, Meningitis, Severe infection ORPHA:464370
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti... OMIM:233600
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Delayed CNS myelination, Agitation OMIM:618339
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Recurrent upper respiratory tract infections, Depression, Polydipsia, Em... ORPHA:293987
Allan-Herndon-Dudley Syndrome
Delayed CNS myelination, Leukodystrophy, Irritability OMIM:300523
Neurodegeneration With Brain Iron Accumulation 7
Dysphagia, Leukodystrophy OMIM:617916
Leukoencephalopathy, Cystic, Without Megalencephaly
Abnormal CNS myelination OMIM:612951
Sandhoff Disease
CNS hypomyelination OMIM:268800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Otitis media, Recurrent bacterial meningitis, Rhinitis, Sinusitis, Recurrent b... ORPHA:70593
Agammaglobulinemia 10, Autosomal Dominant
Meningitis, Recurrent respiratory infections, Recurrent sinusitis OMIM:619707
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Pneumonia, Invasive fungal infection, Opportunistic infection, Eczematoid d... ORPHA:83471
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination ORPHA:521390
Pelizaeus-Merzbacher Disease, Classic Form
Cerebral hypomyelination ORPHA:280219
Cysticercosis
Iridocyclitis, Emotional lability, Infectious encephalitis ORPHA:1560
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Leukodystrophy, Irritability OMIM:619224
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Otitis media, Skin rash, Erythema no... ORPHA:3392
Gaba-Transaminase Deficiency
Leukodystrophy OMIM:613163
Chromosome 8Q21.11 Deletion Syndrome
CNS hypomyelination OMIM:614230
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Recurrent fungal infections, Chronic oral candidiasis,... OMIM:300400
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination OMIM:611555
Fucosidosis
Recurrent respiratory infections, CNS hypomyelination OMIM:230000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, CNS hypomyelination OMIM:615356
Hyperphosphatasia-Intellectual Disability Syndrome
Cerebral hypomyelination ORPHA:247262
Spinocerebellar Ataxia 23
CNS demyelination OMIM:610245
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Delayed CNS myelination, Leukodystrophy OMIM:618688
Leukodystrophy, Hypomyelinating, 17
Leukodystrophy OMIM:618006
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukodystrophy OMIM:618242
Dpagt1-Cdg
Head-banging, CNS hypomyelination, Stereotypical body rocking, Aggressive behavior, Emotional blu... ORPHA:86309
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Abnormal CNS myelination ORPHA:477673
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
CNS hypomyelination OMIM:619306
Immunodeficiency 23
Allergic rhinitis, Bronchiectasis, Severe varicella zoster infection, Eczematoid dermatitis, Chro... OMIM:615816
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dysphagia, Leukodystrophy, Irritability OMIM:618226
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination OMIM:614501
Childhood-Onset Spasticity With Hyperglycinemia
Leukodystrophy, Irritability ORPHA:401866
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, Emotional lability, Irritability, Attention deficit hyperactivity disord... ORPHA:206443
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
CNS hypomyelination, Recurrent urinary tract infections, Stereotypical hand wringing, Aggressive ... ORPHA:268261
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Symmetric peripheral demyelination, Depression, Leukodystrophy, Pseudobulbar paralysis OMIM:169500
Leukodystrophy, Hypomyelinating, 16
Delayed CNS myelination, Leukodystrophy OMIM:617964
Marchiafava-Bignami Disease
Depression, Abnormal emotion, Aggressive behavior, Addictive alcohol use, CNS demyelination ORPHA:221074
Trigeminal Neuralgia
Peripheral demyelination, Depression, CNS demyelination ORPHA:221091
Multiple Mitochondrial Dysfunctions Syndrome 3
Leukodystrophy, Irritability OMIM:615330
X-Linked Agammaglobulinemia
Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, M... ORPHA:47
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy OMIM:614932
Frontal Encephalocele
Leukodystrophy ORPHA:1931
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Delayed CNS myelination, Leukodystrophy OMIM:620269
Fusariosis
Pneumonia, Unusual CNS infection, Invasive fungal infection, Keratitis, Brain abscess, Fasciitis,... ORPHA:228119
Leigh Syndrome, Nuclear
CNS demyelination, Emotional lability OMIM:256000
Leukodystrophy, Hypomyelinating, 13
Delayed CNS myelination, Leukodystrophy, Irritability OMIM:616881
Immunodeficiency 68
Septic arthritis, Recurrent meningitis, Recurrent skin infections, Lymphadenitis OMIM:612260
Follicular Lymphoma
Meningitis ORPHA:545
Mitochondrial Complex I Deficiency, Nuclear Type 4
Leukodystrophy OMIM:618225
Leukodystrophy, Hypomyelinating, 3
Leukodystrophy, Sudanophilic leukodystrophy OMIM:260600
Cinca Syndrome
Meningitis, Skin rash, Arthritis, Uveitis OMIM:607115
Hengel-Maroofian-Schols Syndrome
Abnormal CNS myelination OMIM:619641
Peroxisome Biogenesis Disorder 8B
Peripheral demyelination, Dysphagia, Leukodystrophy OMIM:614877
2,4-Dienoyl-Coa Reductase Deficiency
Delayed CNS myelination, Leukodystrophy OMIM:616034
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Stereotypical body rocking, Cerebral hypomyelination, Repetitive compulsi... ORPHA:513456
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infec... ORPHA:169090
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Cerebrooculofacioskeletal Syndrome 1
Delayed myelination, CNS demyelination, Recurrent pneumonia OMIM:214150
Leukodystrophy, Hypomyelinating, 24
Leukodystrophy OMIM:619851
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination OMIM:200100
Autoinflammation With Infantile Enterocolitis
Meningitis, Enterocolitis, Skin rash OMIM:616050
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Episcleritis, Skin rash, Recurrent bacterial infections, Arthritis, Inflammatory ... ORPHA:36412
Aicardi-Goutieres Syndrome 4
Leukodystrophy OMIM:610333
Schilder Disease
CNS demyelination ORPHA:59298
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Delayed CNS myelination, CNS demyelination OMIM:619653
Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Pseudobulbar paralysis OMIM:616140
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Agitation ORPHA:100924
Krabbe Disease
Peripheral demyelination, CNS demyelination OMIM:245200
Leukodystrophy, Hypomyelinating, 4
Leukodystrophy OMIM:612233
Wiedemann-Rautenstrauch Syndrome
CNS hypomyelination, Leukodystrophy, Recurrent urinary tract infections, Recurrent otitis media, ... ORPHA:3455
Immunodeficiency 67
Septic arthritis, Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infect... OMIM:607676
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Angiostrongyliasis
Meningitis, Unusual CNS infection, Irritability ORPHA:74
Waardenburg Syndrome, Type 4A
Leukodystrophy OMIM:277580
Rere-Related Neurodevelopmental Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, CNS demyelination, Dysphagia ORPHA:494344
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent infections, Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hep... ORPHA:37042
Progressive Multifocal Leukoencephalopathy
Meningitis, CNS demyelination ORPHA:217260
Pyruvate Carboxylase Deficiency
Leukodystrophy OMIM:266150
Melioidosis
Pneumonia, Unusual skin infection, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatiti... ORPHA:31202
Secondary Syringomyelia
CNS demyelination, Fatigable weakness, Pseudobulbar paralysis ORPHA:99857
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Leukodystrophy, Aspiration pneumonia ORPHA:431361
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, Recurrent enteroviral infections, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Chronic Granulomatous Disease
Eczematoid dermatitis, Otitis media, Sinusitis, Inflammatory abnormality of the eye, Meningitis, ... ORPHA:379
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Cinca Syndrome
Inflammatory abnormality of the eye, Meningitis, Retrobulbar optic neuritis, Uveitis ORPHA:1451
Tick-Borne Encephalitis
Unusual CNS infection, Myelitis, Depression, Dysphagia, Anorexia, Meningitis, Fatigable weakness ... ORPHA:297
Gorham-Stout Disease
Meningitis, Osteomyelitis ORPHA:73
Arachnoiditis
Meningitis ORPHA:137817
Mixed Connective Tissue Disease
Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Meningitis, P... ORPHA:809
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Head-banging, Leukodystrophy, Recurrent otitis media, Frequent temper ta... OMIM:619575
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Leukodystrophy OMIM:619051
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Cholecystitis, Leukodystrophy ORPHA:309256
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Recurrent infections, Delayed CNS myelination, Dysphagia, Leukodystrophy OMIM:615471
Giant Cell Arteritis
Depression, Recurrent pharyngitis, Arthritis, Anorexia, Meningitis, Pericarditis ORPHA:397
Isolated Sedoheptulokinase Deficiency
Abnormal CNS myelination, Hepatitis ORPHA:440713
Orofaciodigital Syndrome Xiv
CNS hypomyelination OMIM:615948
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Cholecystitis, Leukodystrophy ORPHA:309263
Combined Oxidative Phosphorylation Deficiency 59
Attention deficit hyperactivity disorder, CNS demyelination OMIM:620646
Aicardi-Goutieres Syndrome 1
CNS demyelination, Chilblains, Self-mutilation OMIM:225750
Combined Oxidative Phosphorylation Deficiency 4
Leukodystrophy OMIM:610678
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent lower respiratory tract infections, Recurrent respiratory infections, CNS hypomyelination OMIM:619534
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Paro... ORPHA:51636
Coccidioidomycosis
Pneumonia, Unusual CNS infection, Folliculitis, Invasive fungal infection, Morbilliform rash, Ost... ORPHA:228123
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Leukodystrophy OMIM:614299
Leukodystrophy, Progressive, Early Childhood-Onset
Leukodystrophy OMIM:617762
Canavan Disease
CNS demyelination OMIM:271900
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Depression, Cholecystitis, Leukodystrophy ORPHA:309271
X-Linked Cerebral Adrenoleukodystrophy
Diffuse demyelination of the cerebral white matter, CNS demyelination, Dysphagia, Hyperactivity ORPHA:139396
Adult Krabbe Disease
Peripheral demyelination, CNS demyelination ORPHA:206448
Niemann-Pick Disease Type C
Depression, Leukodystrophy, Aspiration pneumonia, Low frustration tolerance, Disinhibition, Aggre... ORPHA:646
Congenital Syphilis
Pneumonia, Keratitis, Synovitis, Pancreatitis, Myocarditis, Meningitis, Rhinitis, Maculopapular e... ORPHA:499009
Hurler Syndrome
Abnormal CNS myelination, Recurrent otitis media, Recurrent respiratory infections OMIM:607014
Familial Mediterranean Fever
Depression, Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis... ORPHA:342
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Leukodystrophy, Peripheral demyelination, Emotional lability, Tics, Motor stereotypy, Depression,... OMIM:619475
Alg8-Cdg
Leukodystrophy ORPHA:79325
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Recurrent pneumonia, Skin rash, Colonic eosinophilia, Mening... OMIM:617718
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Meningitis, Recu... OMIM:600802
Trichinellosis
Skin rash, Irritability, Meningitis, Conjunctivitis, Dysphagia ORPHA:863
Combined Oxidative Phosphorylation Defect Type 23
Leukodystrophy ORPHA:444013
Hyperglycinemia, Lactic Acidosis, And Seizures
Leukodystrophy OMIM:614462
Sepsis In Premature Infants
Invasive fungal infection, Severe infection, Enterocolitis, Meningitis, Disseminated viral infection ORPHA:90051
Pituitary Dermoid And Epidermoid Cysts
Meningitis, Polydipsia ORPHA:91351
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination OMIM:614886
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination OMIM:272200
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Glomerulonephritis, Meningitis, Recurrent skin infections, Va... ORPHA:2968
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability OMIM:219090
Peroxisome Biogenesis Disorder 6B
Leukodystrophy OMIM:614871
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Meningitis, Pericarditis OMIM:249100
Primary Sjögren Syndrome
Arteritis, Depression, Parotitis, Chronic active hepatitis, Lymphocytic interstitial pneumonia, M... ORPHA:289390
Kawasaki Disease
Hepatitis, Conjunctivitis, Skin rash, Cholecystitis, Irritability, Arthritis, Recurrent pharyngit... ORPHA:2331
Leigh Syndrome
Severe viral infection, Dysphagia, Eczematoid dermatitis, Leukodystrophy ORPHA:506
Acute Transverse Myelitis
Severe viral infection, Invasive parasitic infection, Disseminated nontuberculous mycobacterial i... ORPHA:139417
Plague
Inflammation of the large intestine, Depression, Lymphadenitis, Chapped lip, Anorexia, Skin rash,... ORPHA:707
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination OMIM:610651
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Otitis media,... ORPHA:906
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Int... ORPHA:449395
Granulomatosis With Polyangiitis
Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis, Sinusitis, I... ORPHA:900
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Abnormal CNS myelination, Abnormal myelination, Pancreatitis OMIM:620371
Glycogen Storage Disease Ii
Abnormal CNS myelination, Recurrent respiratory infections OMIM:232300
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy ORPHA:370997
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Brain abscess, Severe viral infection, Severe infection, Pancreatitis, Myocarditis, Se... ORPHA:544482
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Self-injurious behavior, Abnormal fear-induced behavior, Recurrent urinary tract infec... ORPHA:353281
Rabson-Mendenhall Syndrome
Recurrent infections, CNS demyelination, Polydipsia ORPHA:769
Aicardi-Goutières Syndrome
Leukodystrophy, Chilblains, Irritability, Myositis, Arthritis, Demyelinating peripheral neuropath... ORPHA:51
Cryptococcosis
Pneumonia, Osteomyelitis, Peritonitis, Prostatitis, Meningitis ORPHA:1546
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Recurrent pneu... OMIM:301000
Cerebrotendinous Xanthomatosis
Depression, Aggressive behavior, Attention deficit hyperactivity disorder, Hypermyelinated retina... ORPHA:909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy OMIM:616538
Bickerstaff Brainstem Encephalitis
Pneumonia, Recurrent gastroenteritis, Severe infection, Acute demyelinating polyneuropathy, CNS d... ORPHA:79138
Combined Oxidative Phosphorylation Deficiency 58
CNS demyelination OMIM:620451
De Sanctis-Cacchione Syndrome
Conjunctivitis, Keratitis, Leukodystrophy OMIM:278800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Self-injurious behavior, Abnormal fear-induced behavior, Recurrent urinary tract infec... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Self-injurious behavior, Abnormal fear-induced behavior, Recurrent urinary tract infec... ORPHA:353277
Peroxisome Biogenesis Disorder 1B
Leukodystrophy OMIM:601539
Isolated Complex I Deficiency
Leukodystrophy ORPHA:2609
Leptospirosis
Uveitis, Hepatitis, Skin rash, Optic neuritis, Anorexia, Meningitis, Pericarditis ORPHA:509
Kikuchi-Fujimoto Disease
Malar rash, Skin rash, Pustule, Anorexia, Myocarditis, Meningitis ORPHA:50918
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukodystrophy OMIM:612199
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
CNS demyelination OMIM:620024
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukodystrophy OMIM:252010
Hydranencephaly
Meningitis ORPHA:2177
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, CNS demyelination, Dysphagia OMIM:220111
Sacral Defect With Anterior Meningocele
Meningitis OMIM:600145

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 Bcas1

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 Bcas1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
BCAS1 expression defines a population of early myelinating oligodendrocytes in multiple sclerosis lesions. Science translational medicine (December 2017) Bcas1tm1c(EUCOMM)Wtsi Bcas1tm1a(EUCOMM)Wtsi Bcas1tm1d(EUCOMM)Wtsi 29212715

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bcas1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Bcas1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bcas1em1(IMPC)Tcp Indel Mice, Tissue

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