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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

Download data as:  TSV  XLS

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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 Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

5 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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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
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... 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, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
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
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
Immunodeficiency 37
Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Herpes simplex encephalitis, Meningitis 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
Decreased number of peripheral myelinated nerve fibers, CNS hypomyelination, Onion bulb formation... OMIM:214400
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral hypomyelination, Hyperactivity, Aggressive behavior, CNS hypomyelination ORPHA:369939
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Hyperactivity, Aggressive behavior, CNS hypomyelination OMIM:620023
Null Syndrome
Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination ORPHA:280234
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy, CNS hypomyelination OMIM:616494
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis, Anorexia ORPHA:99825
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... OMIM:618982
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Leukodystrophy, Childhood-Onset, Remitting
Irritability, Leukodystrophy OMIM:619864
Kaya-Barakat-Masson Syndrome
Irritability, CNS hypomyelination OMIM:619125
Zika Virus Disease
Maculopapular exanthema, Skin rash, Acute demyelinating polyneuropathy, Arthritis, Conjunctivitis... ORPHA:448237
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Delayed CNS myelination, Aggressive behavior OMIM:619031
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Irritability, CNS hypomyelination OMIM:615281
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Pfapa Syndrome
Recurrent pharyngitis, Infectious encephalitis, Arthritis ORPHA:42642
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Leukoencephalopathy With Vanishing White Matter 1
Cerebral hypomyelination, CNS demyelination, Emotional lability OMIM:603896
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Leukodystrophy, CNS hypomyelination OMIM:617560
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination OMIM:619688
Neurodevelopmental Disorder With Language Delay And Seizures
Obsessive-compulsive trait, Attention deficit hyperactivity disorder, CNS hypomyelination OMIM:619908
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Leukodystrophy, Hypomyelinating, 15
Dysphagia, Leukodystrophy, CNS hypomyelination OMIM:617951
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy OMIM:616370
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Recurrent pharyngitis, Fulminant hepatitis, Severe Epstein Barr... OMIM:308240
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination OMIM:618559
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysphagia, Leukodystrophy, CNS hypomyelination OMIM:607694
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Unusual CNS infection, Bronchiectasis, Hepatitis,... ORPHA:1163
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Leukodystrophy, CNS hypomyelination ORPHA:527497
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, CNS hypomyelination, Inappropriate laughter, Cerebral hypomye... OMIM:103050
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Delayed CNS myelination, Impulsivity, Aggressive behavior, Tongue thrusting, CNS hypomyelination,... OMIM:619580
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination OMIM:618557
Folinic Acid-Responsive Seizures
Cerebral hypomyelination, Delayed myelination, Irritability ORPHA:79097
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Sudanophilic leukodystrophy, Depression, CNS hypomyelination, Abnormal C... OMIM:312080
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Leukodystrophy, CNS hypomyelination OMIM:610532
Lyme Disease
Arthritis, Meningitis, Infectious encephalitis, Uveitis ORPHA:91546
Ddost-Cdg
Recurrent ear infections, CNS hypomyelination ORPHA:300536
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, CNS hypomyelination OMIM:616158
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination OMIM:300475
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
Fasciitis, Sinusitis, Myositis, Recurrent urinary tract infections, Pneumonia, Osteomyelitis, Ski... ORPHA:36234
Developmental And Epileptic Encephalopathy 5
CNS hypomyelination OMIM:613477
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral hypomyelination, Dysphagia, Leukodystrophy, CNS hypomyelination OMIM:614381
Scrub Typhus
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Infectious encephalitis ORPHA:83317
Hartnup Disease
Skin rash, Emotional lability, Infectious encephalitis ORPHA:2116
Meningococcal Meningitis
Skin rash, Irritability, Infectious encephalitis, Anorexia ORPHA:33475
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... OMIM:614379
Tremor-Ataxia-Central Hypomyelination Syndrome
Dysphagia, Leukodystrophy, CNS hypomyelination ORPHA:447896
Poliomyelitis
Anorexia, Meningitis, Irritability, Agitation, Dysphagia, Fatigable weakness of respiratory muscl... ORPHA:2912
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination OMIM:615760
Spasticity, Childhood-Onset, With Hyperglycinemia
Leukodystrophy OMIM:616859
Congenital Enterovirus Infection
Skin rash, Myocarditis, Hepatitis, Irritability, Meningitis, Infectious encephalitis ORPHA:292
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Whipple Disease
Myositis, Pericarditis, Anorexia, Myocarditis, Uveitis, Depression, Arthritis, Polydipsia, Infect... ORPHA:3452
Cerebral Visual Impairment
Unusual CNS infection, Meningitis, Infectious encephalitis, Attention deficit hyperactivity disorder ORPHA:447788
Hereditary Methemoglobinemia
Cerebral hypomyelination, Delayed myelination ORPHA:621
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Glutamine Deficiency, Congenital
Recurrent respiratory infections, CNS hypomyelination OMIM:610015
Typhoid
Skin rash, Infectious encephalitis ORPHA:99745
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
CNS hypomyelination, Irritability, Aggressive behavior, Severe demyelination of the white matter ORPHA:481152
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, EBV encephalitis, Uveitis, Persistent EBV... OMIM:615122
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... ORPHA:139402
Spastic Paraplegia 44, Autosomal Recessive
CNS hypomyelination OMIM:613206
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... OMIM:300755
Legionnaires Disease
Pericarditis, Anorexia, Recurrent pharyngitis, Myocarditis, Hepatitis, Endocarditis, Infectious e... ORPHA:549
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Cerebral hypomyelination, Leukodystrophy OMIM:608804
Acute Disseminated Encephalomyelitis
Viral hepatitis, Disseminated viral infection, Severe parainfluenza infection, Aggressive behavio... ORPHA:83597
Reynolds Syndrome
Skin rash, Arthritis, Keratoconjunctivitis sicca, Dysphagia, Infectious encephalitis ORPHA:779
Combined Oxidative Phosphorylation Deficiency 53
Arthritis, Osteomyelitis, Septic arthritis, CNS hypomyelination OMIM:619423
4H Leukodystrophy
Cerebral hypomyelination, Dysphagia ORPHA:289494
Leukodystrophy, Hypomyelinating, 6
Cerebral hypomyelination, Leukodystrophy OMIM:612438
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, Meningitis, Irritability, CNS demyelination, Infectious encephalitis OMIM:603553
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, CNS hypomyelination OMIM:615966
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukodystrophy OMIM:614561
Giant Axonal Neuropathy
CNS hypomyelination ORPHA:643
Leukodystrophy, Hypomyelinating, 10
Leukodystrophy, CNS hypomyelination OMIM:616420
Developmental And Epileptic Encephalopathy 93
CNS hypomyelination OMIM:618012
Alg2-Cdg
Cerebral hypomyelination ORPHA:79326
Orofaciodigital Syndrome Xvii
CNS hypomyelination OMIM:617926
Listeriosis
Brain abscess, Unusual skin infection, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Meningiti... ORPHA:533
Huppke-Brendel Syndrome
CNS hypomyelination OMIM:614482
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy OMIM:619196
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Dysphagia, Leukodystrophy, CNS hypomyelination OMIM:619576
Lissencephaly 8
Cerebral hypomyelination OMIM:617255
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
CNS hypomyelination OMIM:619286
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy OMIM:617613
Developmental And Epileptic Encephalopathy 75
CNS hypomyelination OMIM:618437
Multiple Sclerosis, Susceptibility To
CNS demyelination, Emotional lability, Depression OMIM:126200
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Nephritis, Infectious encephalitis, Br... ORPHA:2552
Avian Influenza
Pneumonia, Hepatitis, Conjunctivitis, Meningitis, Infectious encephalitis, Myelitis ORPHA:454836
Nocardiosis
Brain abscess, Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Mening... ORPHA:31204
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Microcephaly-Capillary Malformation Syndrome
Delayed myelination, CNS hypomyelination OMIM:614261
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Delayed CNS myelination, CNS hypomyelination OMIM:619260
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
American Trypanosomiasis
Skin rash, Myocarditis, Infectious encephalitis ORPHA:3386
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Dysphagia, CNS hypomyelination ORPHA:300605
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Unusual infection, Men... ORPHA:781
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Delayed CNS myelination OMIM:612164
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Peroxisomal Acyl-Coa Oxidase Deficiency
CNS demyelination, Irritability, Leukodystrophy, Dysphagia OMIM:264470
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Gm1 Gangliosidosis
Recurrent respiratory infections, Aspiration pneumonia, Dysphagia, Oral aversion, Infectious ence... ORPHA:354
Immunodeficiency 66
Pustule, Meningitis, Recurrent skin infections OMIM:618847
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... OMIM:601457
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination OMIM:618186
Hemophagocytic Lymphohistiocytosis, Familial, 1
Irritability, Meningitis, Infectious encephalitis OMIM:267700
Retinal Dystrophy With Leukodystrophy
CNS hypomyelination OMIM:618863
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Recurrent infections, Self-mutilation, Dysphagia, CNS hypomyelination OMIM:618922
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
CNS hypomyelination OMIM:618622
Aicardi-Goutieres Syndrome 6
Irritability, Chilblains, Leukodystrophy OMIM:615010
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis ORPHA:540
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral hypomyelination, Pseudobulbar paralysis ORPHA:438114
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination OMIM:616239
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Chronic otitis media, Cerebral hypomyelination OMIM:612949
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination OMIM:614922
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Anorexia, Orchitis, Retrobulbar op... ORPHA:117
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic tinea infection, Chronic oral candidiasis, Onychomycosis, Deep dermatophytosis, Meningitis OMIM:212050
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Chronic hepatitis, Recurrent bacterial infections, Sclerosing cholangitis, Chronic ora... OMIM:308230
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, CNS hypomyelination, Inflammation of the large intestine, Leukodystrophy, Dysphagia OMIM:619708
Developmental And Epileptic Encephalopathy 29
CNS hypomyelination OMIM:616339
Japanese Encephalitis
Paucity of anterior horn motor neurons, Meningitis, Infectious encephalitis, Anorexia ORPHA:79139
Scedosporiosis
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Pelizaeus-Merzbacher Disease In Female Carriers
CNS hypomyelination ORPHA:280229
Zygomycosis
Brain abscess, Fasciitis, Sinusitis, Unusual skin infection, Pericarditis, Gastritis, Pustule, In... ORPHA:73263
Mitochondrial Complex I Deficiency, Nuclear Type 15
CNS demyelination, Irritability OMIM:618237
Alexander Disease
Depression, Self-injurious behavior, Dysphagia, Emotional lability, Infectious encephalitis ORPHA:58
Leukodystrophy, Hypomyelinating, 12
Cerebral hypomyelination, Delayed myelination OMIM:616683
S-Adenosylhomocysteine Hydrolase Deficiency
Delayed myelination, CNS hypomyelination ORPHA:88618
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Delayed CNS myelination, CNS hypomyelination, Irritability, Dysphagia, Cerebral hypomyelination OMIM:618367
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Recurrent urinary tract infections, Infectious encephalitis, Depression ORPHA:847
Sandhoff Disease, Infantile Form
CNS hypomyelination ORPHA:309155
Aicardi-Goutieres Syndrome 5
Irritability, Chilblains, Leukodystrophy OMIM:612952
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Glomerulonephritis, Orchitis,... ORPHA:1304
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Anorexia, Pustule, Orchitis, Arthritis, Infectious encephalitis ORPHA:761
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
CNS hypomyelination OMIM:618527
Rift Valley Fever
Skin rash, Anorexia, Severe viral infection, Hepatitis, Uveitis, Infectious encephalitis ORPHA:319251
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... ORPHA:3077
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Inflammatory abnormality of the skin, Eczema,... ORPHA:391487
Combined Saposin Deficiency
CNS demyelination OMIM:611721
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Cerebral hypomyelination, Delayed myelination, Irritability, Esophagitis ORPHA:79351
Amoebiasis Due To Free-Living Amoebae
Restlessness, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Irritability, Infectious enc... ORPHA:68
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Recurrent respiratory infections, Hyperactivity, Hair-pulling, Irritability, Dysphagia, Cerebral ... ORPHA:447997
Immunodeficiency 46
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Developmental And Epileptic Encephalopathy 71
CNS demyelination OMIM:618328
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination ORPHA:280210
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Peripheral demyelination, Dysphagia OMIM:249900
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
CNS demyelination, Dysphagia, Depression OMIM:221820
Incontinentia Pigmenti
Skin rash, Keratitis, Uveitis, Attention deficit hyperactivity disorder, Infectious encephalitis ORPHA:464
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Pyruvate Carboxylase Deficiency
Anorexia, Delayed myelination, CNS hypomyelination, Compulsive behaviors, Abnormal temper tantrum... ORPHA:3008
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
CNS hypomyelination OMIM:617193
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Synovitis... ORPHA:324625
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral hypomyelination, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral hypomyelination, Recurrent pneumonia, Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Delayed CNS myelination, Agitation OMIM:618339
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
CNS demyelination, Disinhibition OMIM:618193
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Marbach-Rustad Progeroid Syndrome
CNS hypomyelination OMIM:619322
Neonatal Alloimmune Neutropenia
Severe infection, Meningitis, Pneumonia ORPHA:464370
Immunodeficiency 59 And Hypoglycemia
Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory tract infecti... OMIM:233600
Allan-Herndon-Dudley Syndrome
Irritability, Delayed CNS myelination, Leukodystrophy OMIM:300523
Neurodegeneration With Brain Iron Accumulation 7
Leukodystrophy, Dysphagia OMIM:617916
Leukoencephalopathy, Cystic, Without Megalencephaly
Abnormal CNS myelination OMIM:612951
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Recurrent upper respiratory tract infections, Depression, Self-injurious beh... ORPHA:293987
Sandhoff Disease
CNS hypomyelination OMIM:268800
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Meningitis, Recurrent sinusitis OMIM:619707
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination ORPHA:521390
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... ORPHA:83471
Pelizaeus-Merzbacher Disease, Classic Form
Cerebral hypomyelination ORPHA:280219
Cysticercosis
Emotional lability, Infectious encephalitis, Iridocyclitis ORPHA:1560
Gaba-Transaminase Deficiency
Leukodystrophy OMIM:613163
Fucosidosis
Recurrent respiratory infections, CNS hypomyelination OMIM:230000
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Irritability, Leukodystrophy OMIM:619224
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination OMIM:611555
Chromosome 8Q21.11 Deletion Syndrome
CNS hypomyelination OMIM:614230
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Conju... ORPHA:3392
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Recurrent fungal infec... OMIM:300400
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
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
CNS hypomyelination OMIM:619306
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukodystrophy OMIM:618242
Mitochondrial Complex I Deficiency, Nuclear Type 5
Irritability, Leukodystrophy, Dysphagia OMIM:618226
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Abnormal CNS myelination ORPHA:477673
Dpagt1-Cdg
Aggressive behavior, Head-banging, CNS hypomyelination, Stereotypical body rocking, Emotional blu... ORPHA:86309
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination OMIM:614501
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... ORPHA:70593
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, Irritability, Abnormal CNS myelination, Attention deficit hyperactivity ... ORPHA:206443
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Recurrent sta... OMIM:615816
Leukodystrophy, Hypomyelinating, 16
Delayed CNS myelination, Leukodystrophy OMIM:617964
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Aggressive behavior, CNS hypomyelination, Dysphagia, Stereoty... ORPHA:268261
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Pseudobulbar paralysis, Symmetric peripheral demyelination, Leukodystrophy, Depression OMIM:169500
Marchiafava-Bignami Disease
Aggressive behavior, Depression, Addictive alcohol use, Abnormal emotion, CNS demyelination ORPHA:221074
Multiple Mitochondrial Dysfunctions Syndrome 3
Irritability, Leukodystrophy OMIM:615330
Childhood-Onset Spasticity With Hyperglycinemia
Irritability, Leukodystrophy ORPHA:401866
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy OMIM:614932
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Depression ORPHA:221091
Frontal Encephalocele
Leukodystrophy ORPHA:1931
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Delayed CNS myelination, Leukodystrophy OMIM:620269
Leukodystrophy, Hypomyelinating, 13
Irritability, Delayed CNS myelination, Leukodystrophy OMIM:616881
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... ORPHA:228119
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis OMIM:612260
Mitochondrial Complex I Deficiency, Nuclear Type 4
Leukodystrophy OMIM:618225
Follicular Lymphoma
Meningitis ORPHA:545
Leigh Syndrome
CNS demyelination, Emotional lability OMIM:256000
Leukodystrophy, Hypomyelinating, 3
Sudanophilic leukodystrophy, Leukodystrophy OMIM:260600
2,4-Dienoyl-Coa Reductase Deficiency
Delayed CNS myelination, Leukodystrophy OMIM:616034
Peroxisome Biogenesis Disorder 8B
Peripheral demyelination, Leukodystrophy, Dysphagia OMIM:614877
Cinca Syndrome
Skin rash, Arthritis, Meningitis, Uveitis OMIM:607115
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Stereotypical body rocking, Recurrent otitis media, Cerebral hypo... ORPHA:513456
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Krabbe Disease
CNS demyelination, Peripheral demyelination OMIM:245200
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Hengel-Maroofian-Schols Syndrome
Abnormal CNS myelination OMIM:619641
Cerebrooculofacioskeletal Syndrome 1
CNS demyelination, Delayed myelination, Recurrent pneumonia OMIM:214150
Abetalipoproteinemia
CNS demyelination, Peripheral demyelination OMIM:200100
Leukodystrophy, Hypomyelinating, 24
Leukodystrophy OMIM:619851
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Schilder Disease
CNS demyelination ORPHA:59298
Aicardi-Goutieres Syndrome 4
Leukodystrophy OMIM:610333
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
CNS demyelination, Delayed CNS myelination OMIM:619653
Autoinflammation With Infantile Enterocolitis
Skin rash, Meningitis, Enterocolitis OMIM:616050
Adult-Onset Still Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Arthritis, Meningitis ORPHA:829
Leukodystrophy, Hypomyelinating, 9
Pseudobulbar paralysis, Leukodystrophy OMIM:616140
Leukodystrophy, Hypomyelinating, 4
Leukodystrophy OMIM:612233
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Porphyria Due To Ala Dehydratase Deficiency
Abnormal fear-induced behavior, Agitation, Restlessness, Depression ORPHA:100924
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Uveitis, Inflammatory abnormality of the eye, Arthritis, Recurrent bacte... ORPHA:36412
Waardenburg Syndrome, Type 4A
Leukodystrophy OMIM:277580
Rere-Related Neurodevelopmental Syndrome
CNS demyelination, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia ORPHA:494344
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Recurrent skin infections, Synovitis, CNS hypomyelination, Le... ORPHA:3455
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneum... ORPHA:37042
Angiostrongyliasis
Unusual CNS infection, Irritability, Meningitis ORPHA:74
Pyruvate Carboxylase Deficiency
Leukodystrophy OMIM:266150
Progressive Multifocal Leukoencephalopathy
CNS demyelination, Meningitis ORPHA:217260
Secondary Syringomyelia
Fatigable weakness, CNS demyelination, 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 respiratory infections, Recurrent enteroviral infections, Recurrent ear infections, Rec... ORPHA:79124
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Eczema, Inflammatory abnormality of the eye, Otitis ... ORPHA:379
Tick-Borne Encephalitis
Anorexia, Unusual CNS infection, Depression, Dysphagia, Fatigable weakness of respiratory muscles... ORPHA:297
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Cinca Syndrome
Inflammatory abnormality of the eye, Retrobulbar optic neuritis, Meningitis, Uveitis ORPHA:1451
Arachnoiditis
Meningitis ORPHA:137817
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca,... ORPHA:809
Gorham-Stout Disease
Osteomyelitis, Meningitis ORPHA:73
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Head-banging, Self-injurious behavior, Leukodystrophy, Attentio... OMIM:619575
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Delayed CNS myelination, Recurrent infections, Leukodystrophy, Dysphagia OMIM:615471
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Leukodystrophy OMIM:619051
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Cholecystitis, Leukodystrophy ORPHA:309256
Isolated Sedoheptulokinase Deficiency
Abnormal CNS myelination, Hepatitis ORPHA:440713
Aicardi-Goutieres Syndrome 1
CNS demyelination, Chilblains, Self-mutilation OMIM:225750
Orofaciodigital Syndrome Xiv
CNS hypomyelination OMIM:615948
Giant Cell Arteritis
Pericarditis, Anorexia, Recurrent pharyngitis, Depression, Arthritis, Meningitis ORPHA:397
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Cholecystitis, Leukodystrophy ORPHA:309263
Combined Oxidative Phosphorylation Deficiency 4
Leukodystrophy OMIM:610678
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent respiratory infections, Recurrent lower respiratory tract infections, CNS hypomyelination OMIM:619534
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Leukodystrophy OMIM:614299
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Canavan Disease
CNS demyelination OMIM:271900
Leukodystrophy, Progressive, Early Childhood-Onset
Leukodystrophy OMIM:617762
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Coccidioidal meningitis, Erythema nodosum, Inv... ORPHA:228123
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Cheilitis, Irritability, ... ORPHA:2331
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Cholecystitis, Leukodystrophy, Depression ORPHA:309271
Niemann-Pick Disease Type C
Aggressive behavior, Dysphagia, Depression, Abnormal CNS myelination, Disinhibition, Low frustrat... ORPHA:646
X-Linked Cerebral Adrenoleukodystrophy
CNS demyelination, Hyperactivity, Diffuse demyelination of the cerebral white matter, Dysphagia ORPHA:139396
Hurler Syndrome
Recurrent otitis media, Recurrent respiratory infections, Abnormal CNS myelination OMIM:607014
Alg8-Cdg
Leukodystrophy ORPHA:79325
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Leukodystrophy, Compulsive behaviors, Otitis media, Abnormal repetitive mannerisms, Restric... OMIM:619475
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Combined Oxidative Phosphorylation Defect Type 23
Leukodystrophy ORPHA:444013
Hyperglycinemia, Lactic Acidosis, And Seizures
Leukodystrophy OMIM:614462
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Recurrent infections, Inflammation of the large intestine, Blepha... OMIM:617718
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... ORPHA:2968
Trichinellosis
Skin rash, Irritability, Conjunctivitis, Dysphagia, Meningitis ORPHA:863
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Meningitis ORPHA:91351
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination OMIM:614886
Peroxisome Biogenesis Disorder 6B
Leukodystrophy OMIM:614871
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination OMIM:272200
Familial Mediterranean Fever
Pericarditis, Orchitis, Peritonitis, Erysipelas, Arthritis, Crohn's disease, Meningitis OMIM:249100
Leigh Syndrome
Severe viral infection, Eczema, Leukodystrophy, Dysphagia ORPHA:506
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Erysipelas, Arthritis, Meningitis... ORPHA:342
Sepsis In Premature Infants
Severe infection, Disseminated viral infection, Meningitis, Enterocolitis ORPHA:90051
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Glycogen Storage Disease Ii
Recurrent respiratory infections, Abnormal CNS myelination OMIM:232300
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination OMIM:610651
Acute Transverse Myelitis
Invasive parasitic infection, Severe viral infection, Disseminated nontuberculous mycobacterial i... ORPHA:139417
Plague
Chapped lip, Skin rash, Anorexia, Erythema nodosum, Lymphadenitis, Enterocolitis, Endocarditis, D... ORPHA:707
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy ORPHA:370997
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp... ORPHA:900
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Eczema, Keratitis, Arthritis, Inflammation of the la... ORPHA:906
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Pneumonia, Myocarditis, Severe infection, Severe viral infection, Septic arthritis... ORPHA:544482
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Pneumonia, I... ORPHA:353281
Rabson-Mendenhall Syndrome
CNS demyelination, Polydipsia, Recurrent infections ORPHA:769
Aicardi-Goutières Syndrome
Myositis, Chilblains, Irritability, Arthritis, Panniculitis, Leukodystrophy, Demyelinating periph... ORPHA:51
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Prostatitis, Urinary bladder i... ORPHA:449395
Wiskott-Aldrich Syndrome
Recurrent herpes, Eczema, Recurrent upper respiratory tract infections, Recurrent pneumonia, Ulce... OMIM:301000
Bickerstaff Brainstem Encephalitis
Pneumonia, Severe infection, Acute demyelinating polyneuropathy, Recurrent gastroenteritis, CNS d... ORPHA:79138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy OMIM:616538
Cryptococcosis
Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Prostatitis ORPHA:1546
Cerebrotendinous Xanthomatosis
Aggressive behavior, Hypermyelinated retinal nerve fibers, Depression, Agitation, Attention defic... ORPHA:909
De Sanctis-Cacchione Syndrome
Keratitis, Conjunctivitis, Leukodystrophy OMIM:278800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Pneumonia, I... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Hyperactivity, Recurrent urinary tract infections, Pneumonia, I... ORPHA:353277
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukodystrophy OMIM:612199
Peroxisome Biogenesis Disorder 1B
Leukodystrophy OMIM:601539
Kikuchi-Fujimoto Disease
Skin rash, Anorexia, Pustule, Myocarditis, Malar rash, Meningitis ORPHA:50918
Isolated Complex I Deficiency
Leukodystrophy ORPHA:2609
Leptospirosis
Pericarditis, Skin rash, Anorexia, Hepatitis, Uveitis, Optic neuritis, Meningitis ORPHA:509
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
Sacral Defect With Anterior Meningocele
Meningitis OMIM:600145
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Peripheral demyelination, Dysphagia OMIM:220111

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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