Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
hyperactivity Kcnmb4em1(IMPC)Mbp HOM   Early adult 1.27×10-05
enlarged lymph nodes Kcnmb4em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Kcnmb4em1(IMPC)Mbp HOM Early adult 0.00

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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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Seizure OMIM:618113
Autism, Susceptibility To, X-Linked 6
Seizure OMIM:300872
Kifafa Seizure Disorder
Seizure OMIM:245180
Mental Retardation, X-Linked 88
Seizure OMIM:300852
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Intellectual Developmental Disorder, Autosomal Dominant 41
Seizure OMIM:616944
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Intellectual Developmental Disorder, Autosomal Recessive 52
Seizure OMIM:616887
Intellectual Developmental Disorder, Autosomal Dominant 2
Seizure OMIM:614113
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607628
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure ... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Atonic seizure, Febrile ... OMIM:604233
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awa... OMIM:616172
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
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Atonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years... OMIM:613863
Epilepsy, Juvenile Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure on awakening, Generalized myoclonic seizure, Generalized non-motor... OMIM:607631
Developmental And Epileptic Encephalopathy 9
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizur... OMIM:300088
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Myoclonic Juvenile
Bilateral tonic-clonic seizure, Morning myoclonic jerks, Status epilepticus, Generalized non-moto... OMIM:254770
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Focal hemiclonic seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Feb... OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized myoclonic seizure, Focal-onset seizure, Febrile seizure (within the age range of 3 mo... OMIM:613060
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure on awakening, Morning myoclonic jerks, Generalized non-motor (abse... OMIM:607682
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
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Febrile Seizures, Familial, 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:611634
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Eyelid myoclonus, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:618357
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 94
Tonic seizure, Atonic seizure, Visually-induced seizure, Generalized myoclonic seizure, Febrile s... OMIM:615369
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Atonic seizure, Febrile seizure (within the age range of 3 months to 6 ... OMIM:615744
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Perioral Myoclonia With Absences
Chin myoclonus, Focal seizure with eyelid myoclonia, Generalized myoclonic seizure, Bilateral ton... ORPHA:139426
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Dravet Syndrome
Myoclonic seizure, Atonic seizure, Focal hemiclonic seizure, Visually-induced seizure, Generalize... OMIM:607208
Immunodeficiency 8
Hyperactivity OMIM:615401
Developmental And Epileptic Encephalopathy 26
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal ... OMIM:616056
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:609446
Benign Familial Infantile Epilepsy
Focal motor seizure, Bilateral tonic-clonic seizure with focal onset, Focal clonic seizure, Focal... ORPHA:306
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Juvenile Absence Epilepsy
Generalized-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilater... ORPHA:1941
Developmental And Epileptic Encephalopathy 57
Atypical absence seizure, Generalized myoclonic seizure, Seizure OMIM:617771
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Febrile seizure (within the age r... ORPHA:307
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal impaired awareness ... OMIM:617831
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Generalized myoclonic seizure,... ORPHA:101039
Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Continuous Spikes And Waves During Sleep
Atypical absence seizure, Atonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Fo... ORPHA:725
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Seizure, Atonic seizure, Myoclonus OMIM:614018
Seizures, Benign Familial Infantile, 2
Focal-onset seizure, Generalized-onset seizure OMIM:605751
Immunodeficiency 75
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:616421
Glycosylphosphatidylinositol Biosynthesis Defect 1
Generalized non-motor (absence) seizure, Seizure, Atonic seizure OMIM:610293
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Kerion Celsi
Lymphadenopathy ORPHA:499
Developmental And Epileptic Encephalopathy 52
Atypical absence seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Febrile seizur... OMIM:617350
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lissencephaly 10
Atypical absence seizure, Tonic seizure, Myoclonic seizure, Atonic seizure, Generalized-onset sei... OMIM:618873
Cataracts, Spastic Paraparesis, And Speech Delay
Focal motor seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Com... OMIM:619338
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Lennox-Gastaut Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Gen... ORPHA:2382
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Atypical absence seizure, Absence seizure with eyelid myoclonia, Atonic seizure, Generalized myoc... OMIM:618587
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:79137
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619157
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Episodic Ataxia, Type 5
Atypical absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mon... OMIM:613855
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Developmental And Epileptic Encephalopathy 99
Eyelid myoclonus, Tonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Epileptic spasm, ... OMIM:619606
Developmental And Epileptic Encephalopathy 56
Myoclonic seizure, Focal motor seizure, Generalized non-motor (absence) seizure, Seizure, Status ... OMIM:617665
Generalized Epilepsy With Febrile Seizures-Plus
Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal-onset seizure, Fe... ORPHA:36387
Myoclonic Epilepsy Of Infancy
Photosensitive tonic-clonic seizure, Generalized myoclonic seizure, Febrile seizure (within the a... ORPHA:86909
Jeavons Syndrome
Atonic seizure, Focal seizure with eyelid myoclonia, Visually-induced seizure, Generalized myoclo... ORPHA:139431
Developmental And Epileptic Encephalopathy 6B
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Myoclonic absence seizure, Focal-onse... OMIM:619317
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Focal-onset seizure, Generalized-onset seizure OMIM:615476
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Landau-Kleffner Syndrome
Atypical absence seizure, Focal myoclonic seizure, Non-convulsive status epilepticus without coma... ORPHA:98818
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Developmental And Epileptic Encephalopathy 67
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure OMIM:618141
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Myoclon... ORPHA:2590
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hyperinsulinism-Hyperammonemia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:35878
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Arthrogryposis, Impaired Intellectual Development, And Seizures
Focal motor seizure, Generalized non-motor (absence) seizure OMIM:615553
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (ab... OMIM:619616
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Autosomal Dominant Non-Syndromic Intellectual Disability
Eyelid myoclonus, Atonic seizure, Focal motor seizure, Generalized-onset seizure, Generalized myo... ORPHA:178469
Pyridoxine-Dependent Epilepsy
Atonic seizure, Focal aware motor seizure, Focal-onset seizure, Focal myoclonic seizure, Early on... ORPHA:3006
Rolandic Epilepsy
Focal hemifacial clonic seizure, Atypical absence seizure, Bilateral tonic-clonic seizure with fo... ORPHA:1945
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Bilateral Frontoparietal Polymicrogyria
Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Bilateral tonic-clonic se... ORPHA:101070
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Microcephaly, Seizures, And Developmental Delay
Hyperactivity OMIM:613402
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:97290
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Dravet Syndrome
Photosensitive myoclonic seizure, Atypical absence seizure, Focal hemiclonic seizure, Complex feb... ORPHA:33069
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Atonic seizure, Generalized-onset seizure, Generalized myoclonic seizure, Focal... ORPHA:208447
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:617836
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Paroxysmal Exertion-Induced Dyskinesia
Generalized non-motor (absence) seizure, Seizure ORPHA:98811
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:271980
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Atoni... OMIM:617810
Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:98293
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:616281
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Mitochondrial Complex I Deficiency, Nuclear Type 21
Generalized non-motor (absence) seizure OMIM:618242
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen ORPHA:543
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Atonic seizure, Generalized tonic seizure, Focal impaired awareness seizure, Generalized non-moto... ORPHA:411986
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Immunodeficiency 64
Hepatosplenomegaly, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:240500
Morm Syndrome
Hyperactivity ORPHA:75858
Clcn4-Related X-Linked Intellectual Disability Syndrome
Focal impaired awareness seizure, Focal tonic seizure, Bilateral tonic-clonic seizure, Generalize... ORPHA:485350
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Splenomegaly, Generalized lymphadenopathy, Follicular hyperplasia, Lymphadeno... OMIM:615559
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of the lymph nodes, Hepatosplenomegaly, Splenomegaly OMIM:612840
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Multifocal seiz... OMIM:618170
Intellectual Developmental Disorder, X-Linked 30
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure OMIM:300558
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Focal sensory sei... OMIM:254780
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Lafora Disease
Atypical absence seizure, Atonic seizure, Bilateral tonic-clonic seizure with focal onset, Genera... ORPHA:501
Myoclonic-Astatic Epilepsy
Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Generalized myoclonic-atonic ... ORPHA:1942
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity OMIM:618090
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Eyelid myoclonus, Generalized non-motor (absence) seizure OMIM:613839
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Liang-Wang Syndrome
Generalized non-motor (absence) seizure, Status epilepticus OMIM:618729
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Classic Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Febrile seizure (within the age range of 3 mo... ORPHA:64280
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Atypical absence seizure, Tonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal i... OMIM:619428
Late Infantile Neuronal Ceroid Lipofuscinosis
Cortical myoclonus, Atonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Typical a... ORPHA:168491
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Tularemia
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Cervica... ORPHA:3392
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Nicolaides-Baraitser Syndrome
Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Status epilepticus ORPHA:3051
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Eating-induced seizure, Generalized-onset seizure ORPHA:544254
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymph nodes, Abnormality of the lymphatic system ORPHA:54251
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Cervical lymphadenopathy, Asplenia OMIM:614034
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615122
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Nephroblastoma
Lymphadenopathy ORPHA:654
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Lissencephaly Due To Lis1 Mutation
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... ORPHA:95232
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Harel-Yoon Syndrome
Generalized non-motor (absence) seizure OMIM:617183
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormality of the lymph nodes, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Klatskin Tumor
Lymphadenopathy ORPHA:99978
X-Linked Non-Syndromic Intellectual Disability
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure ORPHA:777
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618935
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:3226
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Bilateral tonic-clonic seizure, Atypical absence seizure, Seizure, Bilateral tonic-clonic seizure... ORPHA:98795
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:603909
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly OMIM:252920
Griscelli Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:381
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly OMIM:252900
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Primary Myelofibrosis
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:824
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Kohlschutter-Tonz Syndrome-Like
Focal-onset seizure, Focal myoclonic seizure, Generalized tonic seizure, Myoclonus, Nocturnal sei... OMIM:619229
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Tonic seizure, Seizure, Status epilepticus OMIM:300260
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:97289
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Atonic seizure, Generalized myoclonic seizure, Focal emotional seizure with laughing, Epileptic s... ORPHA:79351
Intellectual Developmental Disorder, X-Linked 98
Tonic seizure, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... OMIM:300912
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized n... ORPHA:395
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Splenomegaly OMIM:252930
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Histidinemia
Hyperactivity ORPHA:2157
Felty Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:47612
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:457351
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Hepatosplenomegaly, Lymphadenopathy ORPHA:85450
3P25.3 Microdeletion Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils OMIM:308230
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Early Infantile Epileptic Encephalopathy
Atonic seizure, Generalized clonic seizure, Focal-onset seizure, Febrile seizure (within the age ... ORPHA:1934
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Kleefstra Syndrome Due To 9Q34 Microdeletion
Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Status epilepticus ORPHA:96147
Legionnaires Disease
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:549
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Enlarged tonsils, Lymphadenopathy OMIM:606367
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:809
Angelman Syndrome
Atypical absence seizure, Atonic seizure, Generalized myoclonic seizure, Myoclonus, Bilateral ton... ORPHA:72
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233710
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Lymphadenitis, Generalized lymphadenopathy OMIM:618986
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Lymphadenopathy, Generalized lymphadenopathy OMIM:614700
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:260920
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233690
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Lymphatic Filariasis
Lymphangiectasis, Abnormality of the lymphatic system, Lymphadenitis, Lymphadenopathy ORPHA:2035
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Kikuchi-Fujimoto Disease
Splenomegaly, Cervical lymphadenopathy, Generalized lymphadenopathy, Lymphadenopathy, Abnormality... ORPHA:50918
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... ORPHA:369837
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Cervical lymphadenopathy OMIM:602782
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Atonic seizure, Generalized myoclonic seizure, Focal emotional seizure with laughing, Focal tonic... ORPHA:404454
Poems Syndrome
Lymphadenopathy ORPHA:2905
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:306400
Cherubism
Submandibular lymph node enlargement OMIM:118400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Generalized non-motor (absence) seizure, Seizure, Focal-onset seizure ORPHA:258
Q Fever
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:781
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seizure... ORPHA:466943
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Orange discolored tonsils ORPHA:31150
Kinsship Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Myo... OMIM:619297
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Polysplenia, Splenomegaly, Lymphadenopathy, Accessory spleen OMIM:619418
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Tay-Sachs Disease
Focal impaired awareness seizure, Seizure, Myoclonus, Typical absence seizure ORPHA:845
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity OMIM:615688
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Lymphadenopathy, Pulmonary lymphangiomyomatosis ORPHA:538
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Splenomegaly, Chronic noninfectious lymphadenopathy, Lymphadenopathy... ORPHA:3261
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Splenomegaly ORPHA:2136
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:167
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Bone marrow hypocellularity, Splenomegaly, Cervical lymphadenopathy, Enlarged... ORPHA:2442
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Coccidioidomycosis
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence seizure ORPHA:466950
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Febrile seizure... ORPHA:513456
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Duodenal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100076
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Atonic seizure, Generalized myoclonic seizure, Typical absence seizure, Febrile seizure (within t... ORPHA:268261
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Epileptic spasm, Generalized non-motor (absence) seizure, Seizure, Status epilepticus ORPHA:2636
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Brucellosis
Hypersplenism, Splenomegaly, Lymphadenopathy ORPHA:1304
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Seizure, Typical absence seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Seizure, Typical absence seizure ORPHA:352665
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Behçet Disease
Splenomegaly, Lymphadenopathy ORPHA:117
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:256040
Sarcoidosis
Abnormality of the lymph nodes, Lymphadenopathy ORPHA:797
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Lymphadenopathy ORPHA:99827
Marburg Hemorrhagic Fever
Lymphadenopathy ORPHA:99826
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:619381
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure ORPHA:500150
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormality of the lymph nodes, Neoplasm of the thymus ORPHA:99889
African Trypanosomiasis
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:3385
Leptospirosis
Lymphadenopathy ORPHA:509
Sotos Syndrome
Generalized myoclonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, ... ORPHA:821
Chronic Visceral Acid Sphingomyelinase Deficiency
Generalized non-motor (absence) seizure ORPHA:77293
Mowat-Wilson Syndrome
Atypical absence seizure, Seizure, Focal-onset seizure, Status epilepticus 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.

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MGI Allele Allele Type Produced
Kcnmb4em1(IMPC)Mbp Exon Deletion Mice, Tissue

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