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Gene: Kcnmb4 MGI:1913272

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Gene Summary

Name:
potassium large conductance calcium-activated channel, subfamily M, beta member 4
Synonyms:
2900045G12Rik,  Slowpoke beta 4

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Kcnmb4em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Kcnmb4em1(IMPC)Mbp HOM Early adult 0.00
hyperactivity Kcnmb4em1(IMPC)Mbp HOM   Early adult 9.02×10-06

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Kcnmb4 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 Kcnmb4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614280
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:618482
Schizophrenia 15
Hyperactivity OMIM:613950
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure with generalized... OMIM:609446
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Developmental And Epileptic Encephalopathy 19
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:615744
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Photosensitive tonic-clonic seizure, Generalized-onset s... ORPHA:307
Epilepsy, Childhood Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:600131
Febrile Seizures, Familial, 8
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:607681
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:616056
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Atypical absence seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:618596
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Generalized myoclonic seizure, Seizure, Tonic seizure, Atypical absence seizure OMIM:617771
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Bilateral tonic-clonic seizure,... OMIM:607682
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon... OMIM:616346
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Myoclonic seizure, Atonic seizure, Gen... OMIM:616421
Kerion Celsi
Lymphadenopathy ORPHA:499
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:616409
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
Developmental And Epileptic Encephalopathy 52
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,... OMIM:617350
Developmental And Epileptic Encephalopathy 43
Infantile spasms, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic seizure, At... OMIM:617113
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:618141
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atypical absence seizure, ... OMIM:618587
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic sei... OMIM:619157
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Bilateral tonic-clonic sei... OMIM:614018
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure ORPHA:79137
Epilepsy With Eyelid Myoclonia
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139431
Episodic Ataxia, Type 5
Typical absence seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Febrile seizur... OMIM:613855
Cataracts, Spastic Paraparesis, And Speech Delay
Generalized non-motor (absence) seizure, Focal motor seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Atypical abse... ORPHA:2382
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Generalized Epilepsy With Febrile Seizures-Plus
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Gene... ORPHA:36387
Developmental And Epileptic Encephalopathy 56
Generalized non-motor (absence) seizure, Focal motor seizure, Seizure, Myoclonic seizure, Status ... OMIM:617665
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:86893
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera... OMIM:620540
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... ORPHA:98818
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:612621
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ... OMIM:619317
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Laryngeal Neuroendocrine Tumor
Anorexia, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia ORPHA:100083
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Obesity, Hyperphagia, And Developmental Delay
Generalized non-motor (absence) seizure, Seizure OMIM:613886
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Atonic... OMIM:620145
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Tonic seizure, Aty... OMIM:617711
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure, Tonic se... OMIM:615476
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Atonic seizure OMIM:610293
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:35878
Rolandic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Atypical absence seizure, F... ORPHA:1945
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Seizure, Bilatera... OMIM:619616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:271980
Dravet Syndrome
Epilepsia partialis continua, Generalized clonic seizure, Focal-onset seizure, Generalized myoclo... ORPHA:33069
Bilateral Frontoparietal Polymicrogyria
Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure with gener... ORPHA:101070
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Ge... ORPHA:208447
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Developmental And Epileptic Encephalopathy 103
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Bilateral tonic-cloni... OMIM:619913
Lipoid Proteinosis Of Urbach And Wiethe
Generalized non-motor (absence) seizure, Seizure OMIM:247100
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure ORPHA:98811
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Myoclonic seizure, Atonic seizure, Bilateral tonic-cloni... OMIM:617810
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure OMIM:617836
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Pleural Mesothelioma
Lymphadenopathy, Dysphagia ORPHA:50251
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Generalized non-motor (absence) seizure, Seizure, Focal impaired awareness seizure, Bilateral ton... OMIM:619854
Immunodeficiency 27A
Anorexia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymph node OMIM:209950
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616281
Classic Hodgkin Lymphoma
Anorexia, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Clcn4-Related X-Linked Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Focal tonic seizure, Bilatera... ORPHA:485350
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Generalized non-motor (absence) seizure, Seizure OMIM:616033
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Infantile spasms, Atonic seizure, Myoclonus, Generalized... ORPHA:411986
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Developmental And Epileptic Encephalopathy 28
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Seizure, Fo... OMIM:616211
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:615637
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Intellectual Developmental Disorder, Autosomal Dominant 39
Generalized non-motor (absence) seizure, Focal impaired awareness seizure OMIM:616521
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Generalized lymph... OMIM:615559
Thyroid Lymphoma
Lymphadenopathy, Dysphagia ORPHA:97285
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Generalized non-motor (absence) seizure, Seizure, Multifocal seizures, Bilateral tonic-clonic sei... OMIM:618170
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Myoclonic Epilepsy Of Lafora 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:254780
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Childhood Absence Epilepsy
Typical absence seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure, Febrile seizu... ORPHA:64280
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Intellectual Developmental Disorder, Autosomal Dominant 45
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Myocl... OMIM:617600
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Myoclonic-Astatic Epilepsy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Simp... ORPHA:1942
3-Methylglutaconic Aciduria, Type Viia
Atypical absence seizure, Myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic se... OMIM:619835
Intellectual Developmental Disorder, X-Linked 30
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:300558
Lafora Disease
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Erra... ORPHA:501
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Activated Pi3K-Delta Syndrome
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:619428
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Nicolaides-Baraitser Syndrome
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:3051
Leishmaniasis
Anorexia, Lymphadenopathy, Splenomegaly ORPHA:507
Tubulinopathy-Associated Dysgyria
Generalized non-motor (absence) seizure, Startle-induced seizure, Infantile spasms ORPHA:467166
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Medullary Thyroid Carcinoma
Lymphadenopathy, Dysphagia ORPHA:1332
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Status epilepticus OMIM:618729
Late Infantile Neuronal Ceroid Lipofuscinosis
Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Cortical myoclonus, ... ORPHA:168491
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Muscular Dystrophy, Congenital, With Or Without Seizures
Generalized non-motor (absence) seizure, Myoclonic seizure, Focal-onset seizure, Generalized-onse... OMIM:620166
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Bilateral tonic-clonic seizure OMIM:620688
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure ORPHA:544254
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Dysphagia ORPHA:142
Satb2-Associated Syndrome Due To A Pathogenic Variant
Typical absence seizure, Seizure ORPHA:576283
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:615122
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Asplenia OMIM:614034
Nephroblastoma
Lymphadenopathy ORPHA:654
Periventricular Nodular Heterotopia 7
Generalized non-motor (absence) seizure, Seizure, Infantile spasms OMIM:617201
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Eyelid myoclonus, Absence seizure with eyelid myoclonia OMIM:613839
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Primary Myelofibrosis
Anorexia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:824
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Bil... OMIM:618354
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure OMIM:620149
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Lissencephaly Due To Lis1 Mutation
Generalized myoclonic seizure, Seizure, Focal motor seizure, Infantile spasms, Atypical absence s... ORPHA:95232
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Papa Syndrome
Lymphadenopathy ORPHA:69126
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy, Dysphagia ORPHA:100026
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:618935
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic s... OMIM:301091
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:3226
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:603909
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Seizure, Bilater... ORPHA:98795
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Aggressive Systemic Mastocytosis
Anorexia, Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Griscelli Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:381
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
2,4-Dienoyl-Coa Reductase Deficiency
Seizure, Myoclonic absence seizure OMIM:616034
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Seizure, Status epilepticus, Tonic seizure OMIM:300260
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizu... OMIM:614207
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Intellectual Developmental Disorder, Autosomal Dominant 42
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized tonic seizure, Seizure,... OMIM:616973
Acute Monoblastic/Monocytic Leukemia
Anorexia, Cervical lymphadenopathy ORPHA:514
Legionnaires Disease
Anorexia, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:549
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Castleman Disease
Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:619802
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy OMIM:301078
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Den Hoed-De Boer-Voisin Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... OMIM:619229
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Generalized non-motor (absence) seizure, Epileptic spasm, Generalized myoclonic seizure, Focal em... ORPHA:79351
Acute Promyelocytic Leukemia
Anorexia, Addictive alcohol use, Lymphadenopathy ORPHA:520
Carney Triad
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Tafro Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:457077
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Infantile spasms... ORPHA:457351
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Immunodeficiency 10
Lymphadenopathy, Splenomegaly OMIM:612783
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Generalized non-motor (absence) seizure, Myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:615398
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Intellectual Developmental Disorder, X-Linked 98
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Infantile spasms, Bilater... OMIM:300912
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:85450
Felty Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:47612
Neuroendocrine Tumor Of The Colon
Anorexia, Chronic noninfectious lymphadenopathy ORPHA:100080
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Seiz... ORPHA:395
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:829
Early Infantile Epileptic Encephalopathy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal-onset seizure, Seizure... ORPHA:1934
Histidinemia
Hyperactivity ORPHA:2157
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... ORPHA:435638
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:615802
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Kleefstra Syndrome Due To 9Q34 Microdeletion
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:96147
Intellectual Developmental Disorder, Autosomal Dominant 22
Generalized non-motor (absence) seizure, Seizure OMIM:612337
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Familial Pancreatic Carcinoma
Anorexia, Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Developmental And Epileptic Encephalopathy 100
Typical absence seizure, Focal-onset seizure, Myoclonic status epilepticus, Seizure, Infantile sp... OMIM:619777
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphadenopathy, Splenomegaly ORPHA:436159
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis OMIM:618986
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Neuroendocrine Tumor Of The Rectum
Anorexia, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Chronic noninfectious lymphadenopathy ORPHA:100082
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Angelman Syndrome
Generalized myoclonic seizure, Seizure, Infantile spasms, Atypical absence seizure, Atonic seizur... ORPHA:72
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Generalized non-motor (absence) seizure, Seizure, Infantile spasms, Bilateral tonic-clonic seizure OMIM:620224
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:260920
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Generalized non-motor (absence) seizure, Seizure OMIM:617360
Waldenström Macroglobulinemia
Anorexia, Lymphadenopathy, Splenomegaly ORPHA:33226
Kikuchi-Fujimoto Disease
Anorexia, Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, Generalized lymphadenopa... ORPHA:50918
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Gallbladder Neuroendocrine Tumor
Anorexia, Chronic noninfectious lymphadenopathy ORPHA:100086
Bronchial Neuroendocrine Tumor
Anorexia, Chronic noninfectious lymphadenopathy ORPHA:97287
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:603553
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Intellectual Developmental Disorder, Autosomal Dominant 53
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:617798
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Q Fever
Anorexia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:781
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Poems Syndrome
Lymphadenopathy, Splenomegaly ORPHA:2905
Weaver Syndrome
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:277590
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Agitation, Lymphadenopathy, Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly OMIM:615688
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Neuroblastoma
Lymphadenopathy ORPHA:635
Histiocytosis-Lymphadenopathy Plus Syndrome
Lymphadenopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:602782
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Seizure, Infantile... OMIM:620455
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Infantile spasms, Focal e... ORPHA:404454
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Cherubism
Submandibular lymph node enlargement OMIM:118400
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Lymphadenopathy, Splenomegaly, Polysplenia, Accessory spleen OMIM:619418
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Generalized tonic seizure... ORPHA:369837
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Seizure, Focal-onset seizure ORPHA:258
Kinsship Syndrome
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Tay-Sachs Disease
Typical absence seizure, Seizure, Focal impaired awareness seizure, Myoclonus ORPHA:845
Tangier Disease
Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy ORPHA:31150
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia ORPHA:2136
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy ORPHA:538
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly OMIM:614162
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Typical absence seizure, Seizure OMIM:618343
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Autoimmune Lymphoproliferative Syndrome
Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly... ORPHA:3261
Chédiak-Higashi Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
Coccidioidomycosis
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Sarcoidosis, Susceptibility To, 1
Anorexia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:181000
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Simple febrile seizure, Bilateral tonic-clonic seizure ORPHA:466950
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Anorexia OMIM:619381
Behçet Disease
Anorexia, Lymphadenopathy, Splenomegaly ORPHA:117
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Brucellosis
Anorexia, Lymphadenopathy, Splenomegaly, Hypersplenism ORPHA:1304
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Systemic Lupus Erythematosus
Anorexia, Lymphadenopathy ORPHA:536
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... ORPHA:513456
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Typical absence seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, ... ORPHA:268261
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
Marburg Hemorrhagic Fever
Anorexia, Lymphadenopathy, Aggressive behavior ORPHA:99826
Crimean-Congo Hemorrhagic Fever
Anorexia, Lymphadenopathy, Agitation, Splenomegaly ORPHA:99827
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Generalized non-motor (absence) seizure, Epileptic spasm, Seizure, Status epilepticus ORPHA:2636
Helsmoortel-Van Der Aa Syndrome
Typical absence seizure, Seizure, Tonic seizure OMIM:615873
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Typical absence seizure, Seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Typical absence seizure, Seizure ORPHA:352665
Sarcoidosis
Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Generalized non-motor (absence) seizure, Myoclonic seizure, Febrile seizure (within the age range... OMIM:620330
Leptospirosis
Anorexia, Lymphadenopathy ORPHA:509
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:256040
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Abnormal lymph node morphology, Neoplasm of the thymus ORPHA:99889
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure OMIM:612474
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
African Trypanosomiasis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Aggressive behavior ORPHA:3385
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Blau Syndrome
Lymphadenopathy, Splenomegaly ORPHA:90340
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Atonic seizure, Typical absence seizure, Focal-onset seizure OMIM:617157
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:500150
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Sotos Syndrome
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... ORPHA:821
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Mowat-Wilson Syndrome
Status epilepticus, Atypical absence seizure, Seizure, Focal-onset seizure ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Atypical absence seizure, Seizure, Focal-onset seizure ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Atypical absence seizure, Seizure, Focal-onset seizure ORPHA:261552
Alström Syndrome
Typical absence seizure ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kcnmb4

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 Kcnmb4.

No publications found that use IMPC mice or data for Kcnmb4.

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
Kcnmb4em1(IMPC)Mbp Exon Deletion Mice, Tissue

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