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

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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 Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

5 Images


Panel A FCS file(s)

6 Images


XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection


8 Images


XRay Images Skull Lateral Orientation

10 Images


Panel B FCS file(s)

6 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
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Infectious encephalitis OMIM:616532
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10
Herpes simplex encephalitis OMIM:619396
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6
Herpes simplex encephalitis OMIM:614850
Immunodeficiency 31A
Herpes simplex encephalitis OMIM:614892
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Immunodeficiency 37
Colitis, Infectious encephalitis, Recurrent infections 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
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination ORPHA:88637
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia OMIM:613500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Delayed CNS myelination OMIM:619031
Immunodeficiency 83, Susceptibility To Viral Infections
Herpes simplex encephalitis, Meningitis OMIM:613002
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Infectious encephalitis, Recurrent protozoan infecti... OMIM:209920
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Mollus... OMIM:618982
Null Syndrome
CNS hypomyelination, Peripheral demyelination, Demyelinating peripheral neuropathy ORPHA:280234
Charcot-Marie-Tooth Disease, Type 4A
CNS hypomyelination, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve ... OMIM:214400
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Irritability, Leukodystrophy OMIM:619224
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral hypomyelination, Aggressive behavior, CNS hypomyelination ORPHA:369939
Complement Component 4B Deficiency
Meningitis, Chronic active hepatitis OMIM:614379
Developmental And Epileptic Encephalopathy 39
Cerebral hypomyelination OMIM:612949
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis ORPHA:79314
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral hypomyelination, CNS hypomyelination OMIM:601170
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
CNS hypomyelination, Irritability OMIM:615281
Kaya-Barakat-Masson Syndrome
CNS hypomyelination, Irritability OMIM:619125
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral hypomyelination, CNS hypomyelination OMIM:300475
Familial Spontaneous Pneumothorax
Pneumothorax, Abnormal pleura morphology ORPHA:2903
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Cavitating leukodystrophy OMIM:619061
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
CNS hypomyelination, Leukodystrophy, Abnormal upper motor neuron morphology OMIM:607694
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Cerebral hypomyelination, Recurrent infections, Chro... OMIM:608809
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Enteroviral dermatomyositis ... OMIM:300755
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
Leukoencephalopathy With Vanishing White Matter
Cerebral hypomyelination, Emotional lability, CNS demyelination OMIM:603896
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Delayed CNS myelination OMIM:618875
Pfapa Syndrome
Recurrent pharyngitis, Infectious encephalitis, Arthritis ORPHA:42642
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, Delayed myelination OMIM:616158
Optic Atrophy With Demyelinating Disease Of Cns
Peripheral demyelination, CNS demyelination, Optic neuritis OMIM:165200
Leukodystrophy, Hypomyelinating, 13
Leukodystrophy, Delayed myelination OMIM:616881
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy OMIM:616370
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Fulminant hepatitis, Meningitis, Severe Epstein Barr virus infection, Re... OMIM:308240
Microcephaly 10, Primary, Autosomal Recessive
CNS hypomyelination, Delayed myelination OMIM:615095
Congenital Cataracts, Hearing Loss, And Neurodegeneration
CNS hypomyelination OMIM:614482
Hartnup Disease
Anxiety, Emotional lability, Infectious encephalitis, Skin rash ORPHA:2116
Leukodystrophy, Hypomyelinating, 6
Cerebral hypomyelination, Leukodystrophy OMIM:612438
Adenylosuccinase Deficiency
Happy demeanor, Cerebral hypomyelination, Aggressive behavior, Self-mutilation, Inappropriate lau... OMIM:103050
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Nipah Virus Disease
Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
CNS hypomyelination, Leukodystrophy ORPHA:527497
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination OMIM:618559
Zika Virus Disease
Infectious encephalitis, Arthritis, Meningitis, Maculopapular exanthema, Skin rash, Myelitis, Acu... ORPHA:448237
Developmental And Epileptic Encephalopathy 5
CNS hypomyelination OMIM:613477
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Invasive pulmonary aspe... ORPHA:1163
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Mood swings, Happy demeanor, Paroxysmal bursts of laughter, Aggressive behavior, Delayed CNS myel... OMIM:619580
Lyme Disease
Meningitis, Uveitis, Infectious encephalitis, Arthritis ORPHA:91546
Folinic Acid-Responsive Seizures
Cerebral hypomyelination, Irritability, Delayed myelination ORPHA:79097
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination OMIM:618557
CNS hypomyelination, Recurrent ear infections ORPHA:300536
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination OMIM:619328
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination OMIM:615760
Developmental And Epileptic Encephalopathy 93
CNS hypomyelination OMIM:618012
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Severe varicella zoster infection, Infectious encephalitis, Pneumonia, Pe... ORPHA:36234
Scrub Typhus
Myocarditis, Infectious encephalitis, Anterior uveitis, Meningitis, Skin rash ORPHA:83317
Alexander Disease
Diffuse demyelination of the cerebral white matter OMIM:203450
Leukodystrophy, Hypomyelinating, 11
Leukodystrophy OMIM:616494
Leukodystrophy, Hypomyelinating, 2
Cerebral hypomyelination, Leukodystrophy, Demyelinating motor neuropathy OMIM:608804
Immunodeficiency 26 With Or Without Neurologic Abnormalities
CNS hypomyelination, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections OMIM:615966
Acute Disseminated Encephalomyelitis
Herpes simplex encephalitis, CNS demyelination, Aggressive behavior, Optic neuritis, Disseminated... ORPHA:83597
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukodystrophy OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination ORPHA:320401
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
CNS hypomyelination, Delayed myelination OMIM:618367
Multiple Sclerosis, Susceptibility To
Emotional lability, Depression, CNS demyelination OMIM:126200
Spasticity, Childhood-Onset, With Hyperglycinemia
Leukodystrophy OMIM:616859
Congenital Enterovirus Infection
Myocarditis, Infectious encephalitis, Hepatitis, Meningitis, Irritability, Skin rash ORPHA:292
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Delayed myelination OMIM:617613
Leukodystrophy, Hypomyelinating, 10
CNS hypomyelination, Leukodystrophy OMIM:616420
Combined Oxidative Phosphorylation Deficiency 53
CNS hypomyelination, Arthritis, Septic arthritis, Osteomyelitis OMIM:619423
Glutamine Deficiency, Congenital
CNS hypomyelination, Recurrent respiratory infections OMIM:610015
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy OMIM:619196
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Infectious encephalitis, Skin rash ORPHA:99745
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
CNS hypomyelination OMIM:616577
Candidiasis, Familial, 2
Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Meningitis, Deep dermatophytosis OMIM:212050
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Giant Axonal Neuropathy
CNS hypomyelination ORPHA:643
Infectious encephalitis, Low self esteem, Meningitis, Irritability, Fatigable weakness of respira... ORPHA:2912
Meningococcal Meningitis
Irritability, Infectious encephalitis, Skin rash ORPHA:33475
Orofaciodigital Syndrome Xvii
CNS hypomyelination OMIM:617926
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Tremor-Ataxia-Central Hypomyelination Syndrome
CNS hypomyelination, Leukodystrophy ORPHA:447896
Hemophagocytic Lymphohistiocytosis, Familial, 2
Infectious encephalitis, CNS demyelination, Meningitis, Irritability, Skin rash OMIM:603553
Whipple Disease
Myocarditis, Infectious encephalitis, Pericarditis, Myositis, Arthritis, Uveitis, Depression ORPHA:3452
Cerebral hypomyelination ORPHA:79326
Myocarditis, Brain abscess, Pericarditis, Infectious encephalitis, Pustule, Pneumonia, Endocardit... ORPHA:533
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
CNS hypomyelination OMIM:619286
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
CNS hypomyelination, Aggressive behavior, Irritability, Severe demyelination of the white matter ORPHA:481152
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to recurrent infection... OMIM:601457
Mental Retardation With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Anxiety, Aggressive behavior, Delayed CNS myelination OMIM:613670
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent infections, EBV encephalitis, Uveitis, Recurrent pne... OMIM:615122
Developmental And Epileptic Encephalopathy 75
CNS hypomyelination OMIM:618437
Peroxisomal Acyl-Coa Oxidase Deficiency
Irritability, Leukodystrophy, CNS demyelination OMIM:264470
Neuropathy, Congenital Hypomyelinating, 3
CNS hypomyelination OMIM:618186
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Infectious encephalitis ORPHA:1194
Cerebral Visual Impairment
Meningitis, Infectious encephalitis, Unusual CNS infection ORPHA:447788
Legionnaires Disease
Myocarditis, Infectious encephalitis, Pericarditis, Endocarditis, Hepatitis, Pancreatitis, Recurr... ORPHA:549
American Trypanosomiasis
Myocarditis, Infectious encephalitis, Skin rash ORPHA:3386
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebral hypomyelination, Leukodystrophy OMIM:614381
4H Leukodystrophy
Cerebral hypomyelination ORPHA:289494
New-Onset Refractory Status Epilepticus
Infectious encephalitis ORPHA:363558
Combined Oxidative Phosphorylation Deficiency 11
CNS hypomyelination, Delayed myelination OMIM:614922
Reynolds Syndrome
Arthritis, Infectious encephalitis, Skin rash, Keratoconjunctivitis sicca ORPHA:779
Combined Oxidative Phosphorylation Deficiency 24
CNS hypomyelination OMIM:616239
Developmental And Epileptic Encephalopathy 35
Irritability, Delayed CNS myelination OMIM:616647
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Avian Influenza
Infectious encephalitis, Pneumonia, Hepatitis, Meningitis, Myelitis, Conjunctivitis ORPHA:454836
Immunodeficiency 66
Meningitis, Recurrent skin infections, Pustule OMIM:618847
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
CNS hypomyelination, Leukodystrophy OMIM:619576
Sinusitis, Brain abscess, Cholangitis, Myocarditis, Infectious encephalitis, Pneumonia, Endocardi... ORPHA:2552
Retinal Dystrophy With Leukodystrophy
CNS hypomyelination OMIM:618863
Brain abscess, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadenitis, Per... ORPHA:31204
Immunoglobulin M, Level Of
Meningitis OMIM:308250
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
CNS hypomyelination OMIM:618622
Developmental And Epileptic Encephalopathy 76
Delayed CNS myelination OMIM:618468
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Depression, CNS demyelination OMIM:221820
Q Fever
Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Unusual infection, H... ORPHA:781
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
CNS hypomyelination, Self-mutilation, Recurrent infections OMIM:618922
Hemophagocytic Lymphohistiocytosis, Familial, 1
Meningitis, Irritability, Infectious encephalitis OMIM:267700
Familial Hemophagocytic Lymphohistiocytosis
Infectious encephalitis, Erythroderma, Maculopapular exanthema, Skin rash, Colitis ORPHA:540
Juvenile Amyotrophic Lateral Sclerosis
CNS hypomyelination, Amyotrophic lateral sclerosis ORPHA:300605
Aminoacylase 1 Deficiency
Delayed CNS myelination OMIM:609924
Aicardi-Goutieres Syndrome 5
Chilblains, Irritability, Leukodystrophy OMIM:612952
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
CNS hypomyelination, Delayed CNS myelination OMIM:619260
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination OMIM:612164
Leukodystrophy, Hypomyelinating, 4
Leukodystrophy OMIM:612233
Hereditary Methemoglobinemia
Cerebral hypomyelination, Delayed myelination ORPHA:621
Neurocutaneous Melanocytosis
Infectious encephalitis ORPHA:2481
Developmental And Epileptic Encephalopathy 29
CNS hypomyelination OMIM:616339
Developmental And Epileptic Encephalopathy 73
Irritability, Delayed CNS myelination OMIM:618379
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Delayed CNS myelination OMIM:300983
Pelizaeus-Merzbacher Disease In Female Carriers
CNS hypomyelination ORPHA:280229
Sinusitis, Arthralgia/arthritis, Pulmonary tuberculosis, Pericarditis, Opportunistic fungal infec... ORPHA:449280
Behçet Disease
Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... ORPHA:117
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Disinhibition, CNS demyelination OMIM:618193
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Self-injurious behavior, Infectious encephalitis, Depression ORPHA:847
Leukodystrophy, Hypomyelinating, 3
Sudanophilic leukodystrophy, Leukodystrophy OMIM:260600
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inappropriate crying, Cerebral hypomyelination, Esophagitis, Irritability, Delayed myelination ORPHA:79351
Leukodystrophy, Hypomyelinating, 12
Cerebral hypomyelination, Delayed myelination OMIM:616683
S-Adenosylhomocysteine Hydrolase Deficiency
CNS hypomyelination, Delayed myelination ORPHA:88618
Sinusitis, Brain abscess, Myocarditis, Pericarditis, Infectious encephalitis, Pustule, Endocardit... ORPHA:73263
Aicardi-Goutieres Syndrome 6
Leukodystrophy OMIM:615010
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral hypomyelination ORPHA:438114
Combined Saposin Deficiency
CNS demyelination OMIM:611721
Alexander Disease
Self-injurious behavior, Emotional lability, Infectious encephalitis, Depression ORPHA:58
Immunodeficiency 59 And Hypoglycemia
Herpes simplex encephalitis, Acne inversa, Recurrent lower respiratory tract infections, Recurren... OMIM:233600
Progressive Myoclonic Epilepsy With Dystonia
Recurrent upper respiratory tract infections, Delayed CNS myelination ORPHA:352596
Japanese Encephalitis
Meningitis, Paucity of anterior horn motor neurons, Infectious encephalitis ORPHA:79139
Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Hip osteoarthritis, ... ORPHA:1304
Gaba-Transaminase Deficiency
Leukodystrophy OMIM:613163
Leukodystrophy, Hypomyelinating, 9
Leukodystrophy OMIM:616140
Infectious encephalitis, Synovitis, Arthritis, Diminished motivation, Maculopapular exanthema, Sk... ORPHA:324625
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Anxiety, Aggressive behavior, Delayed CNS myelination OMIM:271980
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Recurrent herpes, Bronchie... ORPHA:391487
Combined Oxidative Phosphorylation Deficiency 43
Delayed CNS myelination OMIM:618851
2,4-Dienoyl-Coa Reductase Deficiency
Leukodystrophy OMIM:616034
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
CNS hypomyelination OMIM:617193
Apathy, Iridocyclitis, Emotional lability, Infectious encephalitis ORPHA:1560
Selective Igm Deficiency
Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Fasciitis, Recurr... ORPHA:331235
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Men... OMIM:240500
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Delayed CNS myelination OMIM:619090
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebral hypomyelination, Abnormal myelination ORPHA:280210
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Unusual skin infection, Infectious encephalitis, Pneumonia, Pustule, Irritability ORPHA:68
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Abnormal CNS myelination OMIM:611555
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination ORPHA:521390
Spinocerebellar Ataxia 23
CNS demyelination OMIM:610245
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Meningitis, Otitis media,... ORPHA:229717
Mitochondrial Complex I Deficiency, Nuclear Type 5
Irritability, Leukodystrophy OMIM:618226
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A
Metachromatic leukodystrophy variant OMIM:156310
Trigeminal Neuralgia
Peripheral demyelination, Depression, CNS demyelination, Episodic paroxysmal anxiety ORPHA:221091
Complement Factor I Deficiency
Sinusitis, Glomerulonephritis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urina... OMIM:610984
Marbach-Rustad Progeroid Syndrome
CNS hypomyelination OMIM:619322
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Peripheral demyelination, CNS demyelination OMIM:249900
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Chronic otitis media, Hepatitis, Recurrent infections, Arthritis, Oste... ORPHA:33110
Leukodystrophy, Hypomyelinating, 16
Leukodystrophy OMIM:617964
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Meningitis, Conjunctivitis OMIM:616740
Immunoglobulin A Vasculitis
Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash, Orchitis ORPHA:761
Leukodystrophy, Hypomyelinating, 17
Leukodystrophy OMIM:618006
Developmental And Epileptic Encephalopathy 34
Delayed CNS myelination OMIM:616645
Leigh Syndrome With Leukodystrophy
Emotional lability, Leukodystrophy ORPHA:255241
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, Rhinitis, Recurrent upper and lower respiratory tract infections, R... ORPHA:70593
Sandhoff Disease
CNS hypomyelination OMIM:268800
Rift Valley Fever
Infectious encephalitis, Hepatitis, Uveitis, Severe viral infection, Skin rash ORPHA:319251
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral hypomyelination, Self-injurious behavior ORPHA:457351
Mitochondrial Complex I Deficiency, Nuclear Type 21
Leukodystrophy OMIM:618242
Pyruvate Carboxylase Deficiency
CNS hypomyelination, Apathy, Delayed myelination ORPHA:3008
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Leukodystrophy, Delayed CNS myelination OMIM:618688
Incontinentia Pigmenti
Uveitis, Infectious encephalitis, Skin rash, Keratitis ORPHA:464
Pelizaeus-Merzbacher Disease, Classic Form
Cerebral hypomyelination ORPHA:280219
Multiple Mitochondrial Dysfunctions Syndrome 3
Irritability, Leukodystrophy OMIM:615330
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Delayed CNS myelination OMIM:616154
Thymic Aplasia
Sinusitis, Recurrent bacterial infections, Eczematoid dermatitis, Recurrent infection of the gast... ORPHA:83471
Leukodystrophy OMIM:221790
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Infectious encephalitis, Self-injurious behavior, Aggressive behavior, Recurrent lower respirator... ORPHA:293987
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CNS hypomyelination, Esophagitis OMIM:615356
Developmental And Epileptic Encephalopathy 70
Delayed CNS myelination OMIM:618298
Childhood-Onset Spasticity With Hyperglycinemia
Irritability, Leukodystrophy ORPHA:401866
Pelizaeus-Merzbacher Disease
Sudanophilic leukodystrophy, Cerebral dysmyelination, Abnormal CNS myelination OMIM:312080
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebral hypomyelination, Recurrent pneumonia ORPHA:496641
Hyperphosphatasia-Intellectual Disability Syndrome
Cerebral hypomyelination ORPHA:247262
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Abnormal CNS myelination ORPHA:477673
Immunodeficiency 23
Eczema, Severe varicella zoster infection, Allergic rhinitis, Bronchiectasis, Chronic mucocutaneo... OMIM:615816
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination OMIM:614501
Brain abscess, Pneumonia, Meningitis, Otitis media, Inflammatory abnormality of the eye, Skin ras... ORPHA:3392
Hyperglycinemia, Lactic Acidosis, And Seizures
Leukodystrophy OMIM:614462
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy OMIM:614932
Frontal Encephalocele
Leukodystrophy ORPHA:1931
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
CNS hypomyelination OMIM:619306
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Anxiety, Aggressive behavior, CNS hypomyelination ORPHA:268261
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Cerebral hypomyelination, Recurrent respiratory infections, Irritability, Hair-pulling ORPHA:447997
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial meningitis,... OMIM:300400
Neurodevelopmental Disorder With Infantile Epileptic Spasms
Delayed CNS myelination OMIM:619373
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Depression, Leukodystrophy, Symmetric peripheral demyelination OMIM:169500
Marchiafava-Bignami Disease
CNS demyelination, Aggressive behavior, Apathy, Depression, Abnormal emotion/affect behavior ORPHA:221074
Peroxisome Biogenesis Disorder 8B
Leukodystrophy OMIM:614877
Microphthalmia-Brain Atrophy Syndrome
Diffuse demyelination of the cerebral white matter, Inappropriate crying ORPHA:77299
Pyridoxine-Dependent Epilepsy
Irritability, Delayed CNS myelination ORPHA:3006
Leigh Syndrome
Emotional lability, CNS demyelination OMIM:256000
Late-Infantile/Juvenile Krabbe Disease
Emotional lability, Irritability, Abnormal CNS myelination ORPHA:206443
CNS hypomyelination, Aggressive behavior, Head-banging, Emotional blunting ORPHA:86309
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Leukodystrophy OMIM:614299
Pontocerebellar Hypoplasia, Type 14
Delayed CNS myelination OMIM:619301
Central Precocious Puberty
Meningitis, Acne ORPHA:759
Krabbe Disease
Peripheral demyelination, CNS demyelination OMIM:245200
Pontocerebellar Hypoplasia, Type 15
Delayed CNS myelination OMIM:619302
Peripheral demyelination, CNS demyelination OMIM:200100
X-Linked Agammaglobulinemia
Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Hepatitis, Arthritis, Ost... ORPHA:47
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Leukodystrophy OMIM:617560
Leukoencephalopathy, Cystic, Without Megalencephaly
Abnormal CNS myelination OMIM:612951
Allan-Herndon-Dudley Syndrome
Irritability, Leukodystrophy, Delayed CNS myelination OMIM:300523
Congenital Insensitivity To Pain With Severe Intellectual Disability
Self-mutilation, Keratitis, Delayed CNS myelination, Osteomyelitis ORPHA:453510
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Severe demyelination of the white matter ORPHA:488635
Hengel-Maroofian-Schols Syndrome
Abnormal CNS myelination OMIM:619641
Aicardi-Goutieres Syndrome 4
Leukodystrophy OMIM:610333
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Diffuse demyelination of the cerebral white matter OMIM:600142
Cach Syndrome
Apathy, Pancreatitis, Optic neuritis, Dysmyelinating leukodystrophy, Irritability ORPHA:135
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Irritability, Delayed CNS myelination OMIM:619076
Schilder Disease
CNS demyelination ORPHA:59298
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Sinusitis, Brain abscess, Pneumonia, Bronchiectasis, Peritonitis, Myositis, Fasciitis, Panniculit... ORPHA:228119
Waardenburg Syndrome, Type 4A
Leukodystrophy OMIM:277580
Chromosome 14Q11-Q22 Deletion Syndrome
Abnormal CNS myelination OMIM:613457
Spinocerebellar Ataxia 21
Aggressive behavior, Apathy, Delayed CNS myelination, Impulsivity OMIM:607454
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
CNS demyelination, Delayed CNS myelination OMIM:619653
Pyruvate Carboxylase Deficiency
Leukodystrophy OMIM:266150
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis OMIM:612260
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Delayed CNS myelination OMIM:619091
Neonatal Alloimmune Neutropenia
Meningitis, Severe infection, Pneumonia ORPHA:464370
Warburg Micro Syndrome 1
Delayed CNS myelination OMIM:600118
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Delayed CNS myelination OMIM:300423
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Recurrent respiratory infections, Delayed CNS myelination OMIM:618603
Cinca Syndrome
Arthritis, Meningitis, Uveitis, Skin rash OMIM:607115
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Delayed CNS myelination OMIM:618805
Follicular Lymphoma
Meningitis ORPHA:545
Aplasia Cutis-Myopia Syndrome
Meningitis ORPHA:1117
Developmental And Epileptic Encephalopathy 87
Delayed CNS myelination OMIM:618916
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Peripheral demyelination, CNS demyelination OMIM:220111
Pontocerebellar Hypoplasia, Type 1F
Delayed CNS myelination OMIM:619304
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Pneumonia, Chronic otitis media, Recurrent fungal infections, Rec... ORPHA:169090
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... ORPHA:31205
Progressive Multifocal Leukoencephalopathy
Meningitis, CNS demyelination ORPHA:217260
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Leukodystrophy OMIM:610532
Adult-Onset Still Disease
Myocarditis, Pericarditis, Hepatitis, Arthritis, Meningitis, Skin rash, Recurrent pharyngitis ORPHA:829
Wiedemann-Rautenstrauch Syndrome
Synovitis, Recurrent otitis media, Leukodystrophy, Recurrent urinary tract infections, Recurrent ... ORPHA:3455
Lethal Ataxia With Deafness And Optic Atrophy
Severe demyelination of the white matter, Recurrent infections, Spinal cord posterior columns mye... ORPHA:1187
Epilepsy, Early-Onset, With Or Without Developmental Delay
Delayed CNS myelination OMIM:618832
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dysmyelinating leukodystrophy OMIM:612319
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Leukodystrophy, Pancreatitis, Aspiration pneumonia ORPHA:431361
Congenital Neuronal Ceroid Lipofuscinosis
Diffuse demyelination of the cerebral white matter ORPHA:168486
Rhizomelic Chondrodysplasia Punctata, Type 1
Delayed CNS myelination OMIM:215100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent aspiration pneumonia, Recurrent ear infections, Recurrent viral infections, Leukodystro... ORPHA:79124
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Episcleritis, Arthritis, Meningitis, Uveitis, Inflammatory abnorm... ORPHA:36412
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination OMIM:619556
Autoinflammation With Infantile Enterocolitis
Meningitis, Skin rash, Enterocolitis OMIM:616050
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Rere-Related Neurodevelopmental Syndrome
Self-injurious behavior, CNS demyelination ORPHA:494344
Canavan Disease
CNS demyelination OMIM:271900
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Self-injurious behavior, Aggressive behavior, Delayed CNS myelination ORPHA:404473
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Leukodystrophy, Cholecystitis ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Leukodystrophy, Cholecystitis ORPHA:309263
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Aggressive behavior, Delayed CNS myelination OMIM:618659
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... ORPHA:37042
Meningitis, Irritability, Unusual CNS infection ORPHA:74
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Delayed CNS myelination OMIM:618731
Aicardi-Goutieres Syndrome 1
Chilblains, Self-mutilation, CNS demyelination OMIM:225750
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Cerebral hypomyelination, Recurrent otitis media ORPHA:513456
Intellectual Disability-Strabismus Syndrome
Recurrent gastroenteritis, Aggressive behavior, Recurrent otitis media, Impulsivity, Diffuse demy... ORPHA:363528
Niemann-Pick Disease Type C
Bipolar affective disorder, Aggressive behavior, Apathy, Leukodystrophy, Abnormal CNS myelination... ORPHA:646
Secondary Syringomyelia
CNS demyelination, Fatigable weakness ORPHA:99857
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Pancreatitis, Delayed CNS myelination OMIM:251000
Isolated Sedoheptulokinase Deficiency
Hepatitis, Abnormal CNS myelination ORPHA:440713
Recombinant Chromosome 8 Syndrome
Delayed CNS myelination OMIM:179613
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Depression, Leukodystrophy, Cholecystitis ORPHA:309271
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Delayed CNS myelination OMIM:618672
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Leukodystrophy OMIM:619051
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Irritability, Delayed CNS myelination OMIM:257200
Chronic Granulomatous Disease
Sinusitis, Eczema, Meningitis, Otitis media, Inflammatory abnormality of the eye, Recurrent respi... ORPHA:379
Leukodystrophy, Progressive, Early Childhood-Onset
Leukodystrophy OMIM:617762
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Recurrent infections, Leukodystrophy, Delayed myelination OMIM:615471
Combined Oxidative Phosphorylation Deficiency 4
Leukodystrophy OMIM:610678
Hurler Syndrome
Recurrent respiratory infections, Recurrent ear infections, Abnormal CNS myelination OMIM:607014
Rhizomelic Limb Shortening With Dysmorphic Features
Delayed CNS myelination OMIM:618821
Adult Krabbe Disease
Peripheral demyelination, CNS demyelination ORPHA:206448
Biliary, Renal, Neurologic, And Skeletal Syndrome
CNS hypomyelination, Recurrent respiratory infections, Recurrent lower respiratory tract infections OMIM:619534
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Delayed CNS myelination OMIM:619517
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Stomatitis, Hepatitis, Recurrent lower respiratory tract infectio... OMIM:308230
Cinca Syndrome
Retrobulbar optic neuritis, Meningitis, Uveitis, Inflammatory abnormality of the eye ORPHA:1451
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Myelin outfoldings, Peripheral hypomyelination, Dysmyelinating leukodys... OMIM:609136
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed myelination, Severe demyelination of the white matter ORPHA:391408
Meningitis ORPHA:137817
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Arthritis, Gastritis, Meningitis... ORPHA:809
Gorham-Stout Disease
Meningitis, Osteomyelitis ORPHA:73
D-2-Hydroxyglutaric Aciduria 1
Delayed CNS myelination OMIM:600721
Aicardi-Goutieres Syndrome 9
Pericarditis, Self-mutilation, Recurrent urinary tract infections, Irritability, Acute pancreatit... OMIM:619487
L-2-Hydroxyglutaric Aciduria
Severe demyelination of the white matter OMIM:236792
Leukodystrophy, Hypomyelinating, 15
Leukodystrophy OMIM:617951
Glycogen Storage Disease Ii
Recurrent respiratory infections, Abnormal CNS myelination OMIM:232300
Congenital Disorder Of Glycosylation, Type Il
Delayed CNS myelination OMIM:608776
Malonyl-Coa Decarboxylase Deficiency
Delayed CNS myelination OMIM:248360
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Delayed CNS myelination OMIM:619239
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Delayed CNS myelination OMIM:618862
Whim Syndrome
Sinusitis, Recurrent bacterial infections, Pneumonia, Bronchiectasis, Lymphadenitis, Parotitis, M... ORPHA:51636
Peroxisome Biogenesis Disorder 12A (Zellweger)
CNS demyelination OMIM:614886
Galloway-Mowat Syndrome 10
Delayed CNS myelination OMIM:619609
Tick-Borne Encephalitis
Meningitis, Fatigable weakness of respiratory muscles, Unusual CNS infection, Myelitis, Depression ORPHA:297
Leukodystrophy ORPHA:79325
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Self-injurious behavior, Recurrent otitis media, Leukodystrophy, Recurrent respiratory infections... OMIM:619575
Snijders Blok-Fisher Syndrome
Delayed CNS myelination OMIM:618604
Combined Oxidative Phosphorylation Defect Type 23
Leukodystrophy ORPHA:444013
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Glomerulonephritis, Delayed CNS myelination OMIM:619428
Cockayne Syndrome Type 2
Patchy demyelination of subcortical white matter, Uveitis, Conjunctivitis ORPHA:90322
Folliculitis, Pericarditis, Pneumonia, Peritonitis, Panniculitis, Arthritis, Pancreatitis, Osteom... ORPHA:228123
Giant Cell Arteritis
Pericarditis, Arthritis, Meningitis, Recurrent pharyngitis, Depression ORPHA:397
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Dysmyelinating leukodystrophy ORPHA:137898
Leukocyte Adhesion Deficiency
Sinusitis, Recurrent staphylococcal infections, Conjunctivitis, Recurrent fungal infections, Vagi... ORPHA:2968
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Nephritis, Recurrent pneumonia, Delayed CNS myelination, R... OMIM:617303
Multiple Sulfatase Deficiency
Peripheral demyelination, CNS demyelination OMIM:272200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent otitis media, Recurrent lower respiratory tract infections, Meningitis, Recu... OMIM:600802
Wieacker-Wolff Syndrome, Female-Restricted
Delayed CNS myelination OMIM:301041
Xeroderma Pigmentosum, Complementation Group B
Abnormal CNS myelination OMIM:610651
Sandestig-Stefanova Syndrome
Delayed CNS myelination OMIM:618804
Phelan-Mcdermid Syndrome
Aggressive behavior, Recurrent infections, Delayed CNS myelination OMIM:606232
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... ORPHA:289390
Kawasaki Disease
Myocarditis, Pericarditis, Cheilitis, Hepatitis, Arthritis, Meningitis, Irritability, Skin rash, ... ORPHA:2331
Acute Transverse Myelitis
CNS demyelination, Meningitis, Severe viral infection, Disseminated nontuberculous mycobacterial ... ORPHA:139417
Leigh Syndrome With Cardiomyopathy
Leukodystrophy ORPHA:70474
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy ORPHA:370997
Leigh Syndrome
Eczema, Severe viral infection, Leukodystrophy ORPHA:506
Apathy, Meningitis, Irritability, Skin rash, Conjunctivitis ORPHA:863
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Delayed CNS myelination ORPHA:466934
X-Linked Cerebral Adrenoleukodystrophy
Diffuse demyelination of the cerebral white matter, CNS demyelination ORPHA:139396
White-Sutton Syndrome
Self-injurious behavior, Delayed myelination, Aggressive behavior, Delayed CNS myelination ORPHA:468678
Developmental And Epileptic Encephalopathy 95
Inappropriate crying, Inappropriate laughter, Delayed CNS myelination OMIM:618143
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Violent behavior, Recurrent ear infections, Suicidal ideation, Peripheral demyelination, Aggressi... OMIM:619475
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Delayed CNS myelination OMIM:617050
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Crohn's disease, Meningitis, Orchitis, Erysipelas OMIM:249100
Developmental And Epileptic Encephalopathy 84
Delayed CNS myelination OMIM:618792
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Recurrent lower respiratory tr... OMIM:600903
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Recurrent infections, Delayed CNS myelination OMIM:618590
Familial Mediterranean Fever
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Meningitis, Skin rash, Orchitis, Osteoarthrit... ORPHA:342
Heart And Brain Malformation Syndrome
Delayed CNS myelination OMIM:616920
Chromosome 18Q Deletion Syndrome
Atopic dermatitis, Recurrent respiratory infections, Delayed CNS myelination OMIM:601808
Aicardi-Goutières Syndrome
Myositis, Panniculitis, Arthritis, Leukodystrophy, Irritability, Chilblains, Demyelinating periph... ORPHA:51
Inflammation of the large intestine, Endocarditis, Lymphadenitis, Chapped lip, Arthritis, Meningi... ORPHA:707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy OMIM:616538
Cerebrotendinous Xanthomatosis
CNS demyelination, Hypermyelinated retinal nerve fibers, Suicidal ideation, Aggressive behavior, ... ORPHA:909
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Delayed CNS myelination OMIM:615802
Autosomal Dominant Cerebellar Ataxia
CNS demyelination ORPHA:99
Bickerstaff Brainstem Encephalitis
CNS demyelination, Pneumonia, Acute demyelinating polyneuropathy, Severe infection, Recurrent gas... ORPHA:79138
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Delayed CNS myelination OMIM:300232
Sepsis In Premature Infants
Disseminated viral infection, Severe infection, Meningitis, Enterocolitis ORPHA:90051
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Irritability, Depression, Delayed CNS myelination OMIM:618891
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Pericarditis, Tubulointerstitial nephritis, Urinary bladder... ORPHA:449395
Megalocornea-Mental Retardation Syndrome
Delayed CNS myelination OMIM:249310
Granulomatosis With Polyangiitis
Sinusitis, Pericarditis, Prostatitis, Chronic otitis media, Pancreatitis, Increased inflammatory ... ORPHA:900
Rabson-Mendenhall Syndrome
Recurrent infections, CNS demyelination ORPHA:769
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Brain abscess, Pneumonia, Acute colitis, Pancreatitis, Septic arthritis, Meningitis,... ORPHA:544482
Beta-Ureidopropionase Deficiency
Delayed CNS myelination OMIM:613161
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Severe varicella zoster infection, Eosinophilic infiltration of the esophagus, Perianal abscess, ... OMIM:618213
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Delayed CNS myelination OMIM:617296
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Chronic otitis media, Arthritis, Keratiti... ORPHA:906
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination OMIM:618877
20Q13.33 Microdeletion Syndrome
Delayed CNS myelination ORPHA:261311
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Recurrent herpes, Recurrent otitis media, Recurrent ... OMIM:301000
Combined Oxidative Phosphorylation Deficiency 29
Delayed CNS myelination OMIM:616811
Peroxisome Biogenesis Disorder 1B
Leukodystrophy OMIM:601539
Pneumonia, Prostatitis, Peritonitis, Osteomyelitis, Meningitis ORPHA:1546
Fanconi Anemia, Complementation Group B
Delayed CNS myelination OMIM:300514
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Self-injurious behavior, Anxiety, Delayed CNS myelination OMIM:619512
Isolated Complex I Deficiency
Leukodystrophy ORPHA:2609
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Self-mutilation, Delayed CNS myelination OMIM:619005
Pituitary Dermoid And Epidermoid Cysts
Meningitis ORPHA:91351
9Q33.3Q34.11 Microdeletion Syndrome
Esophagitis, Delayed CNS myelination ORPHA:495818
Sacral Defect With Anterior Meningocele
Meningitis OMIM:600145
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukodystrophy OMIM:612199
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Peripheral demyelination, Severe demyelination of the white matter, Stomatitis ORPHA:79282
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Delayed CNS myelination OMIM:616084
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Delayed CNS myelination OMIM:619036
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukodystrophy OMIM:252010
Deeah Syndrome
Self-mutilation, Delayed CNS myelination OMIM:619004
Cockayne Syndrome A
Peripheral dysmyelination, Abnormal peripheral myelination, Patchy demyelination of subcortical w... OMIM:216400
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Recurrent infections, Delayed CNS myelination OMIM:618653
Thrombocytopenia-Absent Radius Syndrome
Seborrheic dermatitis, Delayed CNS myelination OMIM:274000
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Delayed CNS myelination OMIM:616728
Cockayne Syndrome B
Peripheral dysmyelination, Abnormal peripheral myelination, Patchy demyelination of subcortical w... OMIM:133540
Cockayne Syndrome
Keratoconjunctivitis sicca, Patchy demyelination of subcortical white matter, Malar rash, Cerebra... ORPHA:191
Aicardi Syndrome
Recurrent pneumonia, Delayed CNS myelination OMIM:304050
Meningitis ORPHA:2177
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Delayed CNS myelination OMIM:616975
Kikuchi-Fujimoto Disease
Myocarditis, Pustule, Meningitis, Malar rash, Skin rash ORPHA:50918
Pericarditis, Hepatitis, Optic neuritis, Meningitis, Uveitis, Skin rash ORPHA:509
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Delayed CNS myelination OMIM:619194
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Sudanophilic leukodystrophy OMIM:264090
Coffin-Siris Syndrome 1
Aggressive behavior, Recurrent respiratory infections, Delayed CNS myelination OMIM:135900
Congenital Disorder Of Glycosylation, Type Iim
Recurrent infections, Delayed CNS myelination OMIM:300896
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Atopic dermatitis, Chronic otitis media, Recurrent otitis media, Low frustration tolerance, Delay... OMIM:619503
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Delayed CNS myelination OMIM:608670
Chromosome 1P36 Deletion Syndrome, Distal
Aggressive behavior, Self-mutilation, Delayed CNS myelination OMIM:607872
Microphthalmia, Syndromic 6
Delayed CNS myelination OMIM:607932


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

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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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