Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


Panel B FCS file(s)

6 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


Panel A FCS file(s)

6 Images

Gross Pathology and Tissue Collection


8 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

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
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
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections 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
Recurrent infections, Infectious encephalitis, Colitis OMIM:616098
Complement Component 8 Deficiency, Type I
Meningitis OMIM:613790
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
Recurrent bacterial meningitis, Discoid lupus rash OMIM:620322
Charcot-Marie-Tooth Disease, Type 4A
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, CNS hy... 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
Hyperactivity, CNS hypomyelination, Cerebral hypomyelination, Aggressive behavior ORPHA:369939
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
CNS hypomyelination, Enterocolitis OMIM:620425
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Ch... OMIM:209920
Null Syndrome
Demyelinating peripheral neuropathy, CNS hypomyelination, Peripheral demyelination ORPHA:280234
Nipah Virus Disease
Anorexia, Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, CNS hypomyelination, Self-injurious behavior, Aggressive behavior OMIM:620023
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Recurrent infections, Herpes simplex encephalitis, Molluscum contagiosum,... OMIM:618982
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Leukodystrophy, Hypomyelinating, 11
CNS hypomyelination, Leukodystrophy OMIM:616494
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Leukodystrophy, Childhood-Onset, Remitting
Irritability, Leukodystrophy OMIM:619864
Kaya-Barakat-Masson Syndrome
CNS hypomyelination, Irritability OMIM:619125
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Acute demyelinating polyneuropathy, Infectious encephalitis, Conj... ORPHA:448237
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior, Delayed CNS myelination 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
Herpes simplex encephalitis, Recurrent aphthous stomatitis OMIM:614850
Pfapa Syndrome
Arthritis, Recurrent pharyngitis, Infectious encephalitis ORPHA:42642
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Recurrent urinary tract infections, Men... OMIM:307200
Leukoencephalopathy With Vanishing White Matter 1
CNS demyelination, Emotional lability, Cerebral hypomyelination 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
Obsessive-compulsive trait, CNS hypomyelination, Attention deficit hyperactivity disorder OMIM:619908
Invasive pulmonary aspergillosis, Meningitis, Bronchiectasis, Sinusitis, Keratitis, Unusual CNS i... ORPHA:1163
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Leukodystrophy, Hypomyelinating, 15
CNS hypomyelination, Leukodystrophy, Dysphagia 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, Leukodystrophy, Dysphagia 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
Tongue thrusting, Emotional lability, Recurrent hand flapping, Impulsivity, Motor stereotypy, Del... OMIM:619580
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Recurrent pharyngitis, Fulminant hepatitis, Recurrent respir... OMIM:308240
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination OMIM:618557
Folinic Acid-Responsive Seizures
Delayed myelination, Irritability, Cerebral hypomyelination ORPHA:79097
Adenylosuccinase Deficiency
Hyperactivity, Inappropriate laughter, CNS hypomyelination, Self-mutilation, Cerebral hypomyelina... OMIM:103050
Pelizaeus-Merzbacher Disease
Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Depression, Dysph... OMIM:312080
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Recurrent ear infections, CNS hypomyelination ORPHA:300536
Scrub Typhus
Myocarditis, Skin rash, Anterior uveitis, Meningitis, Infectious encephalitis ORPHA:83317
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination OMIM:300475
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, Delayed CNS myelination OMIM:616158
Lyme Disease
Arthritis, Meningitis, Infectious encephalitis, Uveitis ORPHA:91546
Hartnup Disease
Emotional lability, Skin rash, Infectious encephalitis ORPHA:2116
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
CNS hypomyelination, Delayed CNS myelination OMIM:616577
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination OMIM:619328
Bacterial Toxic-Shock Syndrome
Myocarditis, Myositis, Recurrent urinary tract infections, Skin rash, Arthritis, Meningitis, Seve... ORPHA:36234
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, 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
CNS hypomyelination, Dysphagia, Leukodystrophy, Cerebral hypomyelination OMIM:614381
Tremor-Ataxia-Central Hypomyelination Syndrome
CNS hypomyelination, Leukodystrophy, Dysphagia ORPHA:447896
Anorexia, Irritability, Fatigable weakness of respiratory muscles, Agitation, Myelitis, Dysphagia... 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
Myocarditis, Irritability, Skin rash, Meningitis, Hepatitis, Infectious encephalitis ORPHA:292
Whipple Disease
Myocarditis, Polydipsia, Anorexia, Myositis, Arthritis, Depression, Pericarditis, Infectious ence... ORPHA:3452
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Pustule, Infectious encephalitis, Erythroderma, Interstitial... ORPHA:139402
Cerebral Visual Impairment
Attention deficit hyperactivity disorder, Infectious encephalitis, Meningitis, Unusual CNS infection ORPHA:447788
Legionnaires Disease
Myocarditis, Anorexia, Pancreatitis, Recurrent pharyngitis, Pericarditis, Endocarditis, Hepatitis... ORPHA:549
Skin rash, Infectious encephalitis ORPHA:99745
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Hereditary Methemoglobinemia
Delayed myelination, Cerebral hypomyelination ORPHA:621
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Hemophagocytic Lymphohistiocytosis, Familial, 2
Irritability, Skin rash, CNS demyelination, Meningitis, Infectious encephalitis OMIM:603553
Lymphoproliferative Syndrome 2
EBV encephalitis, Persistent EBV viremia, Recurrent infections, Severe varicella zoster infection... OMIM:615122
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
CNS hypomyelination, Irritability, Severe demyelination of the white matter, Aggressive behavior ORPHA:481152
Glutamine Deficiency, Congenital
CNS hypomyelination, Recurrent respiratory infections OMIM:610015
Spastic Paraplegia 44, Autosomal Recessive
CNS hypomyelination OMIM:613206
Reynolds Syndrome
Keratoconjunctivitis sicca, Arthritis, Skin rash, Dysphagia, Infectious encephalitis ORPHA:779
Acute Disseminated Encephalomyelitis
Irritability, Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Optic n... ORPHA:83597
4H Leukodystrophy
Dysphagia, Cerebral hypomyelination ORPHA:289494
Agammaglobulinemia, X-Linked
Recurrent otitis media, Pyoderma, Prostatitis, Recurrent lower respiratory tract infections, Recu... OMIM:300755
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Leukodystrophy, Cerebral hypomyelination OMIM:608804
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, CNS hypomyelination, Arthritis, Osteomyelitis OMIM:619423
Leukodystrophy, Hypomyelinating, 10
CNS hypomyelination, Leukodystrophy OMIM:616420
Giant Axonal Neuropathy
CNS hypomyelination ORPHA:643
Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Cerebral hypomyelination OMIM:612438
Developmental And Epileptic Encephalopathy 93
CNS hypomyelination OMIM:618012
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukodystrophy OMIM:614561
Cerebral hypomyelination ORPHA:79326
Immunodeficiency 26 With Or Without Neurologic Abnormalities
CNS hypomyelination, Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis OMIM:615966
Orofaciodigital Syndrome Xvii
CNS hypomyelination OMIM:617926
Myocarditis, Unusual skin infection, Irritability, Pyelonephritis, Arteritis, Meningitis, Pericar... ORPHA:533
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
CNS hypomyelination, Leukodystrophy, Dysphagia OMIM:619576
Tremor, Hereditary Essential, 6
Leukodystrophy OMIM:618866
Avian Influenza
Myelitis, Meningitis, Conjunctivitis, Pneumonia, Hepatitis, Infectious encephalitis ORPHA:454836
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy OMIM:619196
Huppke-Brendel Syndrome
CNS hypomyelination OMIM:614482
Anorexia, Scleritis, Thyroiditis, Meningitis, Lymphadenitis, Severe infection, Pericarditis, Kera... 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
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Lissencephaly 8
Cerebral hypomyelination OMIM:617255
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination DECIPHER:59
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy OMIM:617613
American Trypanosomiasis
Myocarditis, Skin rash, Infectious encephalitis ORPHA:3386
Sinusitis, Myocarditis, Anorexia, Cholangitis, Thyroiditis, Bronchiolitis, Nephritis, Pneumonia, ... ORPHA:2552
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Multiple Sclerosis, Susceptibility To
CNS demyelination, Emotional lability, Depression OMIM:126200
Q Fever
Myocarditis, Anorexia, Meningitis, Hepatitis, Pericarditis, Osteomyelitis, Infectious encephaliti... ORPHA:781
Microcephaly-Capillary Malformation Syndrome
Delayed myelination, CNS hypomyelination OMIM:614261
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
CNS hypomyelination, Delayed CNS myelination OMIM:619260
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Juvenile Amyotrophic Lateral Sclerosis
CNS hypomyelination, Amyotrophic lateral sclerosis, Dysphagia ORPHA:300605
Immunodeficiency 66
Recurrent skin infections, Pustule, Meningitis OMIM:618847
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Delayed CNS myelination OMIM:612164
Hemophagocytic Lymphohistiocytosis, Familial, 1
Irritability, Meningitis, Infectious encephalitis OMIM:267700
Gm1 Gangliosidosis
Oral aversion, Aspiration pneumonia, Dysphagia, Recurrent respiratory infections, Infectious ence... ORPHA:354
Complement Factor B Deficiency
Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections OMIM:615561
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination OMIM:618186
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Recurrent infections, CNS hypomyelination, Self-mutilation, Dysphagia OMIM:618922
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, Oti... 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 oral candidiasis, Deep dermatophytosis, Chronic tinea infection, Onychomycosis, Phaeohyph... OMIM:212050
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Erythroderma, Infectious encephalitis, Colitis ORPHA:540
Peroxisomal Acyl-Coa Oxidase Deficiency
CNS demyelination, Irritability, Leukodystrophy, Dysphagia OMIM:264470
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent respiratory infections, Meningitis, Recurr... OMIM:613500
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral hypomyelination, Pseudobulbar paralysis ORPHA:438114
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Aicardi-Goutieres Syndrome 6
Irritability, Leukodystrophy, Chilblains OMIM:615010
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination OMIM:616239
Unusual skin infection, Invasive fungal infection, Sinusitis, Pericarditis, Severe infection, Art... ORPHA:449280
Behçet Disease
Anorexia, Irritability, Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Ar... ORPHA:117
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Chronic otitis media, Cerebral hypomyelination OMIM:612949
Myocarditis, Unusual skin infection, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumon... ORPHA:73263
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination OMIM:614922
Japanese Encephalitis
Anorexia, Paucity of anterior horn motor neurons, Meningitis, Infectious encephalitis ORPHA:79139
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Pneumocystis carinii pneumonia, Recurrent lower respiratory tract infec... 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, Dysphagia, Bronchiectasis, CNS hypomyelination, Leukodystrophy OMIM:619708
Alexander Disease
Depression, Emotional lability, Dysphagia, Self-injurious behavior, Infectious encephalitis ORPHA:58
Mitochondrial Complex I Deficiency, Nuclear Type 15
CNS demyelination, Irritability OMIM:618237
Leukodystrophy, Hypomyelinating, 12
Delayed myelination, Cerebral hypomyelination OMIM:616683
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Depression, Recurrent urinary tract infections, Infectious encephalitis, Self-injurious behavior ORPHA:847
S-Adenosylhomocysteine Hydrolase Deficiency
Delayed myelination, CNS hypomyelination ORPHA:88618
Sandhoff Disease, Infantile Form
CNS hypomyelination ORPHA:309155
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Dysphagia, Delayed CNS myelination, CNS hypomyelination, Cerebral hypomyelination OMIM:618367
Rift Valley Fever
Anorexia, Skin rash, Severe viral infection, Hepatitis, Infectious encephalitis, Uveitis ORPHA:319251
Immunoglobulin A Vasculitis
Anorexia, Arthritis, Skin rash, Episcleritis, Pustule, Orchitis, Infectious encephalitis ORPHA:761
Myocarditis, Anorexia, Hip osteoarthritis, Arteritis, Depression, Knee osteoarthritis, Arthritis,... ORPHA:1304
Aicardi-Goutieres Syndrome 5
Irritability, Leukodystrophy, Chilblains OMIM:612952
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Thyroiditis, Recurrent infections, Chronic mucocutaneous candid... ORPHA:391487
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
CNS hypomyelination OMIM:618527
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Delayed myelination, Irritability, Esophagitis, Cerebral hypomyelination ORPHA:79351
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Irritability, Hair-pulling, Hyperactivity, Dysphagia, Motor stereotypy, Recurrent respiratory inf... ORPHA:447997
Combined Saposin Deficiency
CNS demyelination OMIM:611721
Selective Igm Deficiency
Crohn's disease, Recurrent vulvovaginal candidiasis, Onychomycosis, Severe varicella zoster infec... ORPHA:331235
Immunodeficiency 46
Chronic oral candidiasis, Meningitis, Recurrent sinopulmonary infections, Conjunctivitis OMIM:616740
Incontinentia Pigmenti
Skin rash, Keratitis, Attention deficit hyperactivity disorder, Infectious encephalitis, Uveitis ORPHA:464
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Irritability, Sinusitis, Pustule, Restlessness, Pneumonia, Infectious enc... ORPHA:68
Developmental And Epileptic Encephalopathy 71
CNS demyelination OMIM:618328
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent bronchitis, Recurrent pneumonia, Recurrent sinusitis, Conjuncti... OMIM:240500
Pelizaeus-Merzbacher Disease, Connatal Form
Abnormal myelination, Cerebral hypomyelination ORPHA:280210
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
CNS hypomyelination OMIM:617193
Isolated Agammaglobulinemia
Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otitis media, Re... ORPHA:229717
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Dysphagia, Peripheral demyelination OMIM:249900
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
CNS demyelination, Dysphagia, Depression OMIM:221820
Pyruvate Carboxylase Deficiency
Anorexia, Abnormal temper tantrums, Recurrent hand flapping, Compulsive behaviors, Delayed myelin... ORPHA:3008
Depression, Arthritis, Skin rash, Synovitis, Enthesitis, Infectious encephalitis, Erythema nodosu... ORPHA:324625
Complement Factor I Deficiency
Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu... OMIM:610984
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Recurrent pneumonia, Dysphagia, Cerebral hypomyelination ORPHA:496641
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Motor stereotypy, Cerebral hypomyelination ORPHA:457351
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
CNS demyelination, Disinhibition OMIM:618193
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent infections, Arthritis, Skin rash, Meningitis, Sinusitis, Conjunct... ORPHA:33110
Marbach-Rustad Progeroid Syndrome
CNS hypomyelination OMIM:619322
Neonatal Alloimmune Neutropenia
Pneumonia, Meningitis, Severe infection ORPHA:464370
Immunodeficiency 59 And Hypoglycemia
Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Arteritis, Herpes si... OMIM:233600
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Agitation, Delayed CNS myelination OMIM:618339
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Recurrent lower respiratory tract infections, Depression, Emotional lability, Compuls... ORPHA:293987
Allan-Herndon-Dudley Syndrome
Irritability, Leukodystrophy, Delayed CNS myelination OMIM:300523
Leukoencephalopathy, Cystic, Without Megalencephaly
Abnormal CNS myelination OMIM:612951
Neurodegeneration With Brain Iron Accumulation 7
Leukodystrophy, Dysphagia OMIM:617916
Sandhoff Disease
CNS hypomyelination OMIM:268800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Sinusitis, Rhinitis, Recurrent upper and lower respiratory tract infections, O... ORPHA:70593
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinusitis, Meningitis OMIM:619707
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Recurrent candida infections, Recurrent Staphyloc... ORPHA:83471
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination ORPHA:521390
Pelizaeus-Merzbacher Disease, Classic Form
Cerebral hypomyelination ORPHA:280219
Emotional lability, Infectious encephalitis, Iridocyclitis ORPHA:1560
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Irritability, Leukodystrophy OMIM:619224
Pneumonia, Inflammatory abnormality of the eye, Skin rash, Otitis media, Conjunctivitis, Erythema... ORPHA:3392
Gaba-Transaminase Deficiency
Leukodystrophy OMIM:613163
Chromosome 8Q21.11 Deletion Syndrome
CNS hypomyelination OMIM:614230
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Pneumonia, Skin rash, Recurrent pneumonia, Recurrent bacterial meningit... OMIM:300400
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination OMIM:611555
CNS hypomyelination, Recurrent respiratory infections OMIM:230000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CNS hypomyelination, Esophagitis OMIM:615356
Hyperphosphatasia-Intellectual Disability Syndrome
Cerebral hypomyelination ORPHA:247262
Spinocerebellar Ataxia 23
CNS demyelination OMIM:610245
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Delayed CNS myelination OMIM:618688
Leukodystrophy, Hypomyelinating, 17
Leukodystrophy OMIM:618006
Emotional blunting, Head-banging, Stereotypical body rocking, CNS hypomyelination, Aggressive beh... ORPHA:86309
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukodystrophy OMIM:618242
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
Abnormal CNS myelination, Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Chr... OMIM:615816
Mitochondrial Complex I Deficiency, Nuclear Type 5
Irritability, Leukodystrophy, Dysphagia OMIM:618226
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination OMIM:614501
Leukodystrophy OMIM:221790
Childhood-Onset Spasticity With Hyperglycinemia
Irritability, Leukodystrophy ORPHA:401866
Late-Infantile/Juvenile Krabbe Disease
Irritability, Abnormal CNS myelination, Emotional lability, Neuromuscular dysphagia, Attention de... ORPHA:206443
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Stereotypical hand wringing, Dysphagia, CNS hypomyelination, ... ORPHA:268261
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Depression, Symmetric peripheral demyelination, Leukodystrophy, Pseudobulbar paralysis OMIM:169500
Leukodystrophy, Hypomyelinating, 16
Leukodystrophy, Delayed CNS myelination OMIM:617964
Marchiafava-Bignami Disease
Abnormal emotion, Depression, CNS demyelination, Addictive alcohol use, Aggressive behavior ORPHA:221074
Trigeminal Neuralgia
CNS demyelination, Depression, Peripheral demyelination ORPHA:221091
Multiple Mitochondrial Dysfunctions Syndrome 3
Irritability, Leukodystrophy OMIM:615330
X-Linked Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Meningitis, Sinusitis, Recurrent pneumonia, Conjuncti... ORPHA:47
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy OMIM:614932
Frontal Encephalocele
Leukodystrophy ORPHA:1931
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Leukodystrophy, Delayed CNS myelination OMIM:620269
Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Invasive fungal infection, Onychomyco... ORPHA:228119
Leukodystrophy, Hypomyelinating, 13
Irritability, Leukodystrophy, Delayed CNS myelination OMIM:616881
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Recurrent meningitis, Lymphadenitis OMIM:612260
Follicular Lymphoma
Meningitis ORPHA:545
Mitochondrial Complex I Deficiency, Nuclear Type 4
Leukodystrophy OMIM:618225
Leukodystrophy, Hypomyelinating, 3
Sudanophilic leukodystrophy, Leukodystrophy OMIM:260600
Cinca Syndrome
Arthritis, Skin rash, Meningitis, Uveitis OMIM:607115
Leigh Syndrome
CNS demyelination, Emotional lability OMIM:256000
Hengel-Maroofian-Schols Syndrome
Abnormal CNS myelination OMIM:619641
Peroxisome Biogenesis Disorder 8B
Dysphagia, Leukodystrophy, Peripheral demyelination OMIM:614877
2,4-Dienoyl-Coa Reductase Deficiency
Leukodystrophy, Delayed CNS myelination OMIM:616034
Rat-Bite Fever
Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Meningitis, Lympha... ORPHA:31205
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Stereotypical body rocking, Repetitive compulsive behavior, Motor stereot... ORPHA:513456
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent f... ORPHA:169090
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Cerebrooculofacioskeletal Syndrome 1
Delayed myelination, Recurrent pneumonia, CNS demyelination OMIM:214150
Leukodystrophy, Hypomyelinating, 24
Leukodystrophy OMIM:619851
CNS demyelination, Peripheral demyelination OMIM:200100
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Skin rash, Meningitis OMIM:616050
Hypocomplementemic Urticarial Vasculitis
Inflammatory abnormality of the eye, Arthritis, Skin rash, Episcleritis, Conjunctivitis, Meningit... ORPHA:36412
Aicardi-Goutieres Syndrome 4
Leukodystrophy OMIM:610333
Schilder Disease
CNS demyelination ORPHA:59298
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
CNS demyelination, Delayed CNS myelination OMIM:619653
Porphyria Due To Ala Dehydratase Deficiency
Depression, Agitation, Abnormal fear-induced behavior, Restlessness ORPHA:100924
Leukodystrophy, Hypomyelinating, 9
Leukodystrophy, Pseudobulbar paralysis OMIM:616140
Krabbe Disease
CNS demyelination, Peripheral demyelination OMIM:245200
Leukodystrophy, Hypomyelinating, 4
Leukodystrophy OMIM:612233
Wiedemann-Rautenstrauch Syndrome
Recurrent otitis media, Recurrent urinary tract infections, Synovitis, Recurrent skin infections,... ORPHA:3455
Immunodeficiency 67
Septic arthritis, Recurrent staphylococcal infections, Meningitis, Recurrent streptococcal infect... OMIM:607676
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Irritability, Meningitis, Unusual CNS infection ORPHA:74
Waardenburg Syndrome, Type 4A
Leukodystrophy OMIM:277580
Rere-Related Neurodevelopmental Syndrome
CNS demyelination, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia ORPHA:494344
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Recurrent respiratory infections, Recurrent infections, Thyroiditis, Myositis, Meningi... ORPHA:37042
Progressive Multifocal Leukoencephalopathy
CNS demyelination, Meningitis ORPHA:217260
Pyruvate Carboxylase Deficiency
Leukodystrophy OMIM:266150
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 abscess formation, Recurrent respiratory infections, Recurrent ear infections, Chronic ... ORPHA:79124
Chronic Granulomatous Disease
Inflammatory abnormality of the eye, Eczematoid dermatitis, Sinusitis, Otitis media, Recurrent re... ORPHA:379
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Cinca Syndrome
Retrobulbar optic neuritis, Uveitis, Meningitis, Inflammatory abnormality of the eye ORPHA:1451
Tick-Borne Encephalitis
Anorexia, Fatigable weakness of respiratory muscles, Myelitis, Depression, Dysphagia, Unusual CNS... ORPHA:297
Gorham-Stout Disease
Meningitis, Osteomyelitis ORPHA:73
Meningitis ORPHA:137817
Mixed Connective Tissue Disease
Myocarditis, Gastritis, Myositis, Arthritis, Skin rash, Pericarditis, Meningitis, Keratoconjuncti... ORPHA:809
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Head-banging, Frequent temper tantrums, Motor stereotypy, Attention defic... OMIM:619575
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Leukodystrophy OMIM:619051
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Leukodystrophy, Cholecystitis ORPHA:309256
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Recurrent infections, Leukodystrophy, Dysphagia, Delayed CNS myelination OMIM:615471
Giant Cell Arteritis
Anorexia, Recurrent pharyngitis, Depression, Arthritis, Pericarditis, Meningitis ORPHA:397
Isolated Sedoheptulokinase Deficiency
Abnormal CNS myelination, Hepatitis ORPHA:440713
Orofaciodigital Syndrome Xiv
CNS hypomyelination OMIM:615948
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Leukodystrophy, Cholecystitis ORPHA:309263
Combined Oxidative Phosphorylation Deficiency 59
CNS demyelination, Attention deficit hyperactivity disorder OMIM:620646
Aicardi-Goutieres Syndrome 1
CNS demyelination, Self-mutilation, Chilblains OMIM:225750
Combined Oxidative Phosphorylation Deficiency 4
Leukodystrophy OMIM:610678
Biliary, Renal, Neurologic, And Skeletal Syndrome
CNS hypomyelination, Recurrent respiratory infections, Recurrent lower respiratory tract infections OMIM:619534
Whim Syndrome
Severe periodontitis, Parotitis, Lymphadenitis, Bronchiectasis, Sinusitis, Recurrent pneumonia, O... ORPHA:51636
Morbilliform rash, Coccidioidal meningitis, Pneumonia, Pancreatitis, Panniculitis, Arthritis, Ski... 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
Depression, Emotional lability, Leukodystrophy, Cholecystitis ORPHA:309271
X-Linked Cerebral Adrenoleukodystrophy
CNS demyelination, Hyperactivity, Dysphagia, Diffuse demyelination of the cerebral white matter ORPHA:139396
Adult Krabbe Disease
CNS demyelination, Peripheral demyelination ORPHA:206448
Niemann-Pick Disease Type C
Abnormal CNS myelination, Depression, Demyelinating peripheral neuropathy, Low frustration tolera... ORPHA:646
Congenital Syphilis
Myocarditis, Pancreatitis, Synovitis, Rhinitis, Keratitis, Pneumonia, Meningitis, Maculopapular e... ORPHA:499009
Hurler Syndrome
Recurrent respiratory infections, Recurrent otitis media, Abnormal CNS myelination OMIM:607014
Familial Mediterranean Fever
Pancreatitis, Depression, Arthritis, Skin rash, Pericarditis, Erysipelas, Osteoarthritis, Periton... ORPHA:342
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Impulsivity, Bruxism, Leukodystrophy, Aggressive behavior, Irritability, Agitation... OMIM:619475
Leukodystrophy ORPHA:79325
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent infections, Skin rash, Inflammation of the large intestine, Blepharitis, Recurrent pneu... OMIM:617718
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent upper respiratory... OMIM:600802
Irritability, Skin rash, Dysphagia, Conjunctivitis, Meningitis 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, Enterocolitis, Disseminated viral infection, Meningitis, Severe infection ORPHA:90051
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Meningitis ORPHA:91351
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination OMIM:614886
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Sinusitis, Chronic oral candidiasis, Recurrent aphthous s... ORPHA:2968
Multiple Sulfatase Deficiency
CNS demyelination, Peripheral demyelination OMIM:272200
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Peroxisome Biogenesis Disorder 6B
Leukodystrophy OMIM:614871
Familial Mediterranean Fever
Crohn's disease, Arthritis, Erysipelas, Pericarditis, Orchitis, Peritonitis, Meningitis OMIM:249100
Primary Sjögren Syndrome
Arteritis, Chronic active hepatitis, Myositis, Optic neuritis, Thyroiditis, Arthritis, Parotitis,... ORPHA:289390
Kawasaki Disease
Myocarditis, Irritability, Cheilitis, Recurrent pharyngitis, Arthritis, Skin rash, Meningitis, Pe... ORPHA:2331
Leigh Syndrome
Severe viral infection, Leukodystrophy, Dysphagia, Eczematoid dermatitis ORPHA:506
Acute Transverse Myelitis
Invasive parasitic infection, CNS demyelination, Severe viral infection, Meningitis, Extrapulmona... ORPHA:139417
Anorexia, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis, ... ORPHA:707
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination OMIM:610651
Wiskott-Aldrich Syndrome
Chronic otitis media, Arthritis, Eczematoid dermatitis, Sinusitis, Inflammation of the large inte... ORPHA:906
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Sclerosing cholangitis, Arteritis, Thyroiditis, Meningitis, Lymphadeni... ORPHA:449395
Granulomatosis With Polyangiitis
Chronic otitis media, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Skin rash, ... ORPHA:900
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Abnormal CNS myelination, Abnormal myelination OMIM:620371
Glycogen Storage Disease Ii
Recurrent respiratory infections, Abnormal CNS myelination OMIM:232300
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy ORPHA:370997
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Acute colitis, Severe viral infection, Septic arthritis, Pneumonia, Me... ORPHA:544482
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Recurrent urinary tract infections, Hyperacti... ORPHA:353281
Rabson-Mendenhall Syndrome
CNS demyelination, Polydipsia, Recurrent infections ORPHA:769
Aicardi-Goutières Syndrome
Irritability, Panniculitis, Myositis, Demyelinating peripheral neuropathy, Arthritis, Chilblains,... ORPHA:51
Prostatitis, Peritonitis, Pneumonia, Meningitis, Osteomyelitis ORPHA:1546
Wiskott-Aldrich Syndrome
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent meningitis, Eczem... OMIM:301000
Cerebrotendinous Xanthomatosis
Agitation, Depression, CNS demyelination, Hypermyelinated retinal nerve fibers, Attention deficit... ORPHA:909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy OMIM:616538
Bickerstaff Brainstem Encephalitis
CNS demyelination, Severe infection, Acute demyelinating polyneuropathy, Pneumonia, Recurrent gas... ORPHA:79138
Combined Oxidative Phosphorylation Deficiency 58
CNS demyelination OMIM:620451
De Sanctis-Cacchione Syndrome
Keratitis, Leukodystrophy, Conjunctivitis OMIM:278800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Recurrent urinary tract infections, Hyperacti... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Recurrent urinary tract infections, Hyperacti... ORPHA:353277
Peroxisome Biogenesis Disorder 1B
Leukodystrophy OMIM:601539
Isolated Complex I Deficiency
Leukodystrophy ORPHA:2609
Anorexia, Optic neuritis, Skin rash, Meningitis, Pericarditis, Hepatitis, Uveitis ORPHA:509
Kikuchi-Fujimoto Disease
Myocarditis, Anorexia, Malar rash, Skin rash, Pustule, 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
Meningitis ORPHA:2177
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Dysphagia, Peripheral demyelination OMIM:220111
Sacral Defect With Anterior Meningocele
Meningitis OMIM:600145


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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter