Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
human immunodeficiency virus type I enhancer binding protein 2
Synonyms:
MIBP1,  Schnurri-2,  Shn-2,  Gm20114

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Hivep2 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.

The table below shows human diseases associated to Hivep2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Dominant 43
Hypoplasia of the corpus callosum, Cerebral atrophy, Impulsivity, Anxiety, Hyperactivity, Microce... OMIM:616977
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469

The table below shows human diseases predicted to be associated to Hivep2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Early-Onset Schizophrenia
Low self esteem, Shyness, Depression, Abnormal emotion/affect behavior, Impairment in personality... ORPHA:96369
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Microcephaly 25, Primary, Autosomal Recessive
Hypoplasia of the corpus callosum, Microcephaly, Attention deficit hyperactivity disorder OMIM:618351
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 8
Lymphopenia OMIM:615401
Mental Retardation, Autosomal Recessive 3
Progressive microcephaly, Hyperactivity OMIM:608443
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hypoplasia of the corpus callosum, Cerebral atrophy, Hyperactivity, Microcepha... OMIM:616657
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal corpus callosum morp... OMIM:604317
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Juvenile Huntington Disease
Dystonia, Gait ataxia, Dementia, Depression, Abnormal cerebral white matter morphology, Weight lo... ORPHA:248111
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Mental Retardation, Autosomal Dominant 33
Microcephaly, Hyperactivity OMIM:616311
Microcephaly, Seizures, And Developmental Delay
Hypoplasia of the corpus callosum, Ataxia, Simplified gyral pattern, Hyperactivity, Microcephaly,... OMIM:613402
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, EEG abnormality, Hyperactivity ORPHA:436151
Pelizaeus-Merzbacher Disease
Dystonia, Reduction of oligodendroglia, Psychomotor deterioration, Ataxia, Cerebral dysmyelinatio... OMIM:312080
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Unilateral Focal Polymicrogyria
EEG with parietal focal spikes, EEG with frontal focal spikes, EEG with temporal focal spikes, Ag... ORPHA:268947
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Gliosis, Depression, Cerebral atrophy, Cerebellar atrophy, Torticollis, Mental deter... OMIM:618369
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Disinhibition, Aggressive behavior, Gliosis, Hypoplasia of the corpus callosum, Frontal lobe deme... OMIM:221770
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Absent septum pellucidum, Depression, Hypoplasia of the corpus callosum, Hypsarrhythmia... ORPHA:88616
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Leukoencephalopathy, Hereditary Diffuse, With Spheroids
Mental deterioration, Gliosis, Depression, Abnormal cerebral white matter morphology, Bradykinesi... OMIM:221820
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity, Agenesis of corpus callosum OMIM:605899
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Cln5 Disease
Dysdiadochokinesis, Inability to walk, EEG with spike-wave complexes, Truncal ataxia, Aggressive ... ORPHA:228360
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Hypoplasia of the corpus callosum, Poor eye contact, Ataxia, Cerebral cortic... OMIM:300983
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, EEG with focal epileptiform discharges, Emotional lability, Subc... ORPHA:1929
Insulin-Like Growth Factor I Deficiency
Microcephaly, Decreased body weight, Hyperactivity OMIM:608747
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with temporal focal spikes, Interictal EEG abnormality, Aggres... ORPHA:98818
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Akinetic mutism, Gliosis, Dementia, Hypsarrhythmia, Cerebral atrophy, Ataxia, Hyper... ORPHA:204
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hypoplasia of the corpus callosum, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Cerebral calcification, Anxiety, ... OMIM:261600
Mental Retardation, Autosomal Dominant 43
Hypoplasia of the corpus callosum, Cerebral atrophy, Impulsivity, Anxiety, Hyperactivity, Microce... OMIM:616977
Progressive Multifocal Leukoencephalopathy
Gait ataxia, Abnormal oligodendroglia morphology, Dysmetria, Cognitive impairment, Mental deterio... ORPHA:217260
Progressive Supranuclear Palsy
Memory impairment, Dystonia, Gliosis, Dementia, Depression, Blepharospasm, Bradykinesia, Cerebral... ORPHA:683
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Small for gestational age, Anxiety, Failure to thrive, Hyperact... OMIM:609425
Spinocerebellar Ataxia 17
Dystonia, Gait ataxia, Aggressive behavior, Gliosis, Depression, Dementia, Limb ataxia, Ataxia, B... OMIM:607136
Aminoacylase 1 Deficiency
Cerebellar atrophy, Cerebral atrophy, Hyperactivity OMIM:609924
Xq25 Microduplication Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Anxiety, Hyperactivity OMIM:300979
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Cerebral atrophy, Hyperactivity, Microcephaly, Agenesis of corpus callosum OMIM:274270
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, EEG with spike-wave complexes, Interictal EEG abnorma... ORPHA:363558
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, Aggressive beh... ORPHA:168491
Lennox-Gastaut Syndrome
Personality disorder, Aggressive behavior, EEG with focal sharp slow waves, EEG abnormality, Fall... ORPHA:2382
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Infantile Neuroaxonal Dystrophy
Dystonia, Abnormal cerebral white matter morphology, Psychomotor deterioration, Gait disturbance,... ORPHA:35069
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Dystonia, Gliosis, Hypsarrhythmia, Small for gestational age, EEG with foc... ORPHA:79243
Huntington Disease-Like 1
Gait ataxia, Gliosis, Dementia, Depression, Gait disturbance, Weight loss, Bradykinesia, Cerebral... ORPHA:157941
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Gliosis, Dementia, Depression, Apathy, Cerebral atrophy, Frontotemporal dementia, Abnormal lower ... OMIM:105550
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Gliosis, Apathy, Diminished motivation... OMIM:172700
Ck Syndrome
Slender build, Pachygyria, Aggressive behavior, Polymicrogyria, Irritability, Hyperactivity, Micr... ORPHA:251383
Coffin-Siris Syndrome 8
Aggressive behavior, Self-injurious behavior, Failure to thrive, Hyperactivity, Eczema OMIM:618362
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Recurrent otitis media, Failure to thrive, Hyperactivity, Microcephaly, Agen... OMIM:615286
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, EEG abnormality, Cessation of head growth, Happy demeanor, Hypera... ORPHA:411515
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Cerebral atrophy, Ataxia, Hyperactivity OMIM:615924
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Aggressive behavior, Ataxia, Cortical dysplasia, Focal cortical dys... OMIM:610042
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral white matter atrophy, Corpus callosum atrophy, Aggressive behavior, Cerebral cortical at... ORPHA:369939
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Hypoplasia of the corpus callosum,... ORPHA:500180
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Depression, Difficulty walking, Abnormal social behavior, ... ORPHA:255
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Hypoplasia of the corpus callosum, A... ORPHA:485350
Hyperprolinemia, Type I
EEG abnormality, Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hypoplasia of the corpus callosum, EEG abnormality, Hyperactivity, Secondary... OMIM:617773
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Obesity, Irritability, Abnorma... ORPHA:3077
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia ORPHA:277
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Microcephaly, Aggressive behavior, Decreased body weight, Hyperactivity OMIM:618342
Myoclonic-Astatic Epilepsy
Impaired social interactions, Abnormal emotion/affect behavior, EEG with generalized slow activit... ORPHA:1942
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Sotos Syndrome 3
Hyperactivity OMIM:617169
Ck Syndrome
Slender build, Pachygyria, Aggressive behavior, Polymicrogyria, Irritability, Hyperactivity, Micr... OMIM:300831
Mental Retardation, Autosomal Recessive 39
Microcephaly, Aggressive behavior, Hyperactivity OMIM:615541
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Cerebellar atrophy, EEG abnormality, Anxiet... OMIM:271980
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Self-injurious behavior, Paroxysmal bursts of laughter, EEG abnormality, Hyper... OMIM:618718
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Microcephaly, Aggressive behavior, Hyperactivity OMIM:300558
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Neurofibrillary tangles, Gliosis, Hypersexuality, Apathy, Frontotemporal dementia,... OMIM:607485
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Cortical dysplasia, Hyperactivity, Microc... ORPHA:457260
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Gait ataxia, Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal ... OMIM:300354
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Intellectual Developmental Disorder, X-Linked 98
Hypsarrhythmia, Poor eye contact, Secondary microcephaly, Ataxia, Failure to thrive, Hyperactivit... OMIM:300912
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Happy demeanor, Failure to thrive, Hyperactivity, Progressive microcephaly, Broad-... OMIM:617865
Optic Atrophy 11
Cerebellar hypoplasia, Ataxia, Leukoencephalopathy, Hyperactivity, Dysmetria, Microcephaly OMIM:617302
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Rhombencephalosynapsis, Depression, Self-injurious behavior, Cerebell... OMIM:601853
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
X-Linked Intellectual Disability, Stocco Dos Santos Type
Small for gestational age, Hyperactivity ORPHA:85288
Mental Retardation, Autosomal Recessive 13
Hypoplasia of the corpus callosum, Truncal obesity, Hyperactivity, Secondary microcephaly, Abnorm... OMIM:613192
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Microcephaly, Hyperactivity OMIM:300434
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Poo... OMIM:103050
Crigler-Najjar Syndrome
Cognitive impairment, Memory impairment, Lethargy, Encephalitis ORPHA:205
Hereditary Late-Onset Parkinson Disease
Dystonia, Gliosis, Dementia, Depression, Akinesia, Apathy, Lewy bodies, Weight loss, Bradykinesia... ORPHA:411602
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Failure to thrive in infancy, Ataxia, Cerebral cortical... OMIM:614104
Early-Onset Autosomal Dominant Alzheimer Disease
Disinhibition, Neurofibrillary tangles, Dementia, Abnormal social behavior, Ataxia, Cerebral cort... ORPHA:1020
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Neurofibrillary tangles, Cerebral atrophy, Lewy bodies... OMIM:610217
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hypoplasia of the corpus callosum, Decreased body weight, Hyperactivity, Mic... OMIM:300958
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity, Microcephaly OMIM:612716
Alazami-Yuan Syndrome
Microcephaly, Hyperactivity OMIM:617126
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
Hartnup Disease
Skin rash, Ataxia, Emotional lability, EEG abnormality, Anxiety, Encephalitis ORPHA:2116
Potocki-Lupski Syndrome
Hypoplasia of the corpus callosum, Poor eye contact, Small for gestational age, EEG abnormality, ... OMIM:610883
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Hypoplasia of the corpus callosum, Ataxia, Obesity, EEG abnormality, Cess... ORPHA:98794
Hyperphosphatasia With Mental Retardation Syndrome 6
Microcephaly, Aggressive behavior, EEG with multifocal slow activity, Hyperactivity OMIM:616809
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Eczema, Hyperactivity, Microcephaly, Attention deficit hyperactivity d... ORPHA:352490
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Cerebral atrophy, Ataxia, Progressive psychomotor deterioration, Limb dystonia, Hype... ORPHA:363400
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Impaired social interactions, Shyness, Aggressive behavior, Depression, Poor eye contact, Recurre... ORPHA:449291
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Selective Igm Deficiency
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Dec... ORPHA:331235
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hypsarrhythmia, EEG with burst suppression, Failure to thrive, Hyperactivity, Microcephaly OMIM:619239
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Absent natural killer ... OMIM:600802
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology... ORPHA:391307
47,Xyy Syndrome
Impaired social interactions, Increased circulating gonadotropin level, Cerebellar dysplasia, Imp... ORPHA:8
Cysticercosis
Iridocyclitis, Dementia, Posterior fossa cyst at the fourth ventricle, Apathy, Ataxia, Emotional ... ORPHA:1560
Japanese Encephalitis
Abnormality of thalamus morphology, Decreased motor nerve conduction velocity, Dystonia, Focal T2... ORPHA:79139
Choreoacanthocytosis
Hair-pulling, Weight loss, Emotional lability, Head-banging, Cerebral cortical atrophy, Progressi... ORPHA:2388
Parkinson Disease 1, Autosomal Dominant
Dystonia, Gliosis, Dementia, Depression, Gait disturbance, Lewy bodies, Bradykinesia, Mental dete... OMIM:168601
Metachromatic Leukodystrophy, Adult Form
Dystonia, Dementia, Depression, Punctate periventricular T2 hyperintense foci, Abnormal social be... ORPHA:309271
Amoebiasis Due To Free-Living Amoebae
Pustule, Lethargy, Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology, P... ORPHA:68
Supranuclear Palsy, Progressive, 1
Axial dystonia, Neurofibrillary tangles, Gliosis, Akinesia, Apathy, Bradykinesia, Neuronal loss i... OMIM:601104
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportio... ORPHA:508533
Gm1 Gangliosidosis
Dystonia, Abnormal cerebral white matter morphology, Gait disturbance, Weight loss, Ataxia, Encep... ORPHA:354
Alexander Disease
Depression, Self-injurious behavior, Megalencephaly, Gait disturbance, Ataxia, Emotional lability... ORPHA:58
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Self-mutilation, Overfriendliness, Aggressive behavior, Difficul... OMIM:123450
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, Abnormal social... ORPHA:309263
L-2-Hydroxyglutaric Aciduria
Aplasia/Hypoplasia of the cerebellum, Encephalitis ORPHA:79314
Supranuclear Palsy, Progressive, 2
Axial dystonia, Neurofibrillary tangles, Gliosis, Akinesia, Apathy, Bradykinesia, Neuronal loss i... OMIM:609454
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Poor eye contact, Self-injurious ... ORPHA:72
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Abnormal pons morphology, Elevated circulating growth hormone concentration, Aggressive behavior,... ORPHA:85327
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Cachexia, Hyperactivity, Microcephaly, Athetosis ORPHA:52503
Cerebral Visual Impairment
Abnormal cerebral white matter morphology, Abnormal cerebral morphology, Encephalitis, Focal cort... ORPHA:447788
Rubinstein-Taybi Syndrome 2
Microcephaly, Hyperactivity OMIM:613684
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Gait ataxia, Punctate periventricular T2 hyperintense foci, Progressive gait ataxia, De... ORPHA:309256
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Impaired social interactions, Aggressive behavior, Emotional lability, Low frustration tolerance,... OMIM:309520
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Dementia, Gait disturbance, Inappropriate sexual behavior, Hy... ORPHA:43
Pfapa Syndrome
Encephalitis, Weight loss, Arthritis ORPHA:42642
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Lamb-Shaffer Syndrome
Hyperactivity, Microcephaly, Ataxia, Abnormal social behavior ORPHA:530983
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Graves Disease, Susceptibility To, 1
Irritability, Weight loss, Hyperactivity OMIM:275000
Chromosome 2Q37 Deletion Syndrome
Aggressive behavior, Self-injurious behavior, Hyperactivity, Eczema, Obesity OMIM:600430
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Hyperactivity, Microcephaly ORPHA:228402
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
13Q12.3 Microdeletion Syndrome
Self-mutilation, Atopic dermatitis, Chronic otitis media, Failure to thrive, Hyperactivity, Obesity ORPHA:412035
Citrullinemia Type Ii
Decreased body mass index, Lethargy, Aggressive behavior, Irritability, Pancreatitis, Hyperactivi... ORPHA:247585
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Smith-Magenis Syndrome
Self-mutilation, Head-banging, EEG abnormality, Increased body weight, Hyperactivity OMIM:182290
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2... OMIM:606367
Angelman Syndrome
Progressive gait ataxia, Cerebral cortical atrophy, Paroxysmal bursts of laughter, EEG abnormalit... OMIM:105830
Poliomyelitis
Low self esteem, Inability to walk, Fatigable weakness of respiratory muscles, Myelitis, Abnormal... ORPHA:2912
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Dystonia, EEG with spike-wave complexes, Pachygyria, Uni- and... ORPHA:1934
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Encephalitis ORPHA:1194
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, EEG abnormality, Encephalitis, Arnold-Chiari malformation, ... ORPHA:2481
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Dystonia, Axial dystonia, Low frustration tolerance, Cerebe... ORPHA:646
Whipple Disease
Pericarditis, Depression, Uveitis, Ataxia, Encephalitis, Cachexia, Myocarditis, Myositis, Arthritis ORPHA:3452
Meningococcal Meningitis
Skin rash, Lethargy, Irritability, Encephalitis ORPHA:33475
Zika Virus Disease
Skin rash, Congenital intracerebral calcification, Myelitis, Maculopapular exanthema, Conjunctivi... ORPHA:448237
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Microcephaly, Aggressive behavior, Self-biting ORPHA:3306
Typhoid
Skin rash, Lethargy, Encephalitis, Ataxia ORPHA:99745
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Small for gestational age, Failure to thrive, Hyperactivity, Microcephaly, Atten... ORPHA:73272
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Failure to thrive, Hyperactivity, Attention deficit hyperacti... ORPHA:485405
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Atopic dermatitis, Obesity ORPHA:397973
Rift Valley Fever
Lethargy, Encephalitis, Weight loss ORPHA:319251
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Hypoplastic hippocampus, Cerebellar hypoplasia, At... ORPHA:314647
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Childhood Absence Epilepsy
Low self esteem, Depression, Abnormal social behavior, Anxiety, EEG with spike-wave complexes (2.... ORPHA:64280
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Encephalitis OMIM:616532
Fragile X Syndrome
Poor eye contact, Hyperactivity OMIM:300624
Ataxia-Telangiectasia
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Female hypog... OMIM:208900
Intellectual Disability-Strabismus Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Recurrent otitis media, Gait disturbance,... ORPHA:363528
Lyme Disease
Memory impairment, Uveitis, Encephalitis, Arthritis ORPHA:91546
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Aggressive behavior, Ataxia, Multifocal epileptiform discharges, EEG abnormalit... ORPHA:369891
X-Linked Intellectual Disability, Cabezas Type
Aggressive behavior, EEG abnormality, Cachexia, Hyperactivity, Microcephaly, Broad-based gait, Ob... ORPHA:85293
Pediatric-Onset Graves Disease
Keratitis, Irritability, Episcleritis, Failure to thrive, Hyperactivity, Microcephaly, Mood swings ORPHA:525731
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Enterov... OMIM:307200
White-Sutton Syndrome
Hypoplasia of the pons, Aggressive behavior, Hypoplasia of the corpus callosum, Self-injurious be... ORPHA:468678
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Immunodeficiency 37
Encephalitis, Colitis OMIM:616098
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Weight loss, Hepatitis, ... ORPHA:139402
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... ORPHA:2442
19P13.3 Microduplication Syndrome
Self-injurious behavior, Cerebral atrophy, Irritability, Hyperactivity, Microcephaly ORPHA:447980
Scrub Typhus
Skin rash, Lethargy, Encephalitis, Anterior uveitis, Myocarditis ORPHA:83317
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Inappropriate laughter, Abnormal cerebral white matter morphology, Low frustrati... ORPHA:363686
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
19P13.12 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Self-injurious behavior, Aplasia/Hypoplasia of the cerebellar ... ORPHA:254346
Beh├žet Disease
Memory impairment, Endocarditis, Pericarditis, Increased inflammatory response, Retrobulbar optic... ORPHA:117
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Cerebellar vermis hypoplasia, Ataxia, Elongated superior ce... OMIM:213300
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Depression, Self-injurious behavior, Cerebral cortical atrophy, Encephalitis, Microcephaly, Agene... ORPHA:847
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Megalencephaly, Abnormal corpus callosum morphology, Polymicrogyria, Hyperactiv... ORPHA:457485
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Microcephaly, Hyperactivity OMIM:618089
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Ataxia, Anxiety, Hyperactivity, Obesity OMIM:618430
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Erythroderma, Abnormal cerebral white matter morphology, Maculopapular exanthema, Coli... ORPHA:540
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Abnormal periventricular white matter morphology, Difficulty walking, Gait dis... ORPHA:139396
Glass Syndrome
Aggressive behavior, Happy demeanor, Hyperactivity, Microcephaly, Broad-based gait OMIM:612313
Subacute Sclerosing Panencephalitis
Encephalitis OMIM:260470
Chromosome 13Q33-Q34 Deletion Syndrome
Aggressive behavior, Anencephaly, Small for gestational age, Hyperactivity, Microcephaly, Agenesi... OMIM:619148
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Small for gestational age, Hyperactivity, Microcephaly, Broad-based gait OMIM:609625
Congenital Enterovirus Infection
Skin rash, Hepatitis, Irritability, Encephalitis, Myocarditis ORPHA:292
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Recurrent otitis media, Self-injurious behavior, Failure to thrive in infan... ORPHA:261323
Aspergillosis
Bronchiectasis, Pneumonia, Hepatitis, Keratitis, Encephalitis, Sinusitis, Osteomyelitis ORPHA:1163
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Colitis, Cholangitis, Encephalitis, Chronic mucocutaneous candidiasis, Failure t... OMIM:209920
Mucopolysaccharidosis, Type Iiib
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity OMIM:252920
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Legionnaires Disease
Endocarditis, Pericarditis, Ataxia, Hepatitis, Encephalitis, Pancreatitis, Myocarditis ORPHA:549
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Pneumonia, Septic arthritis, Sinusitis, Glomerulonephritis, Hepatitis, Fa... ORPHA:36234
Microsporidiosis
Peritonitis, Prostatitis, Nephritis, Endocarditis, Lymphadenitis, Thyroiditis, Pneumonia, Weight ... ORPHA:2552
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Impaired social interactions, Aggressive behavior, Depression, Self-inju... ORPHA:293987
Wiedemann-Steiner Syndrome
Aggressive behavior, Psychomotor deterioration, Abnormal corpus callosum morphology, Low frustrat... ORPHA:319182
Neurodegeneration With Brain Iron Accumulation 1
Eye of the tiger anomaly of globus pallidus, Dystonia, Dementia, Depression, Akinesia, Gait distu... OMIM:234200
Nipah Virus Disease
Encephalitis ORPHA:99825
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, Hyperactivity ORPHA:166108
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impaired social interactions, Arnold-Chiari malformation, Aggressive behavior, Self-injurious beh... ORPHA:353281
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Cerebellar hypoplasia, Ataxia, Cerebral cortical atrophy, Unsteady gait, Hip... OMIM:614756
Mend Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Abnormal social behavior, Abnormal audito... ORPHA:401973
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Irritability, Encephalitis, Failure to thrive OMIM:267700
7Q11.23 Microduplication Syndrome
Impaired social interactions, Aggressive behavior, Self-injurious behavior, Chronic otitis media,... ORPHA:96121
Incontinentia Pigmenti
Skin rash, Gait disturbance, Uveitis, Cerebral cortical atrophy, Keratitis, Encephalitis, Cogniti... ORPHA:464
Hemophagocytic Lymphohistiocytosis, Familial, 2
Skin rash, Ataxia, Irritability, Encephalitis, Failure to thrive OMIM:603553
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Dystonia, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:209905
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Abnormal social behavior, Self-injurious behavior, Impulsivity, ... ORPHA:805
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Koolen-De Vries Syndrome
Hypoplasia of the corpus callosum, Impulsivity, Small for gestational age, Anxiety, Failure to th... OMIM:610443
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Encephalitis OMIM:308240
Listeriosis
Peritonitis, Pustule, Endocarditis, Pericarditis, Pyelonephritis, Arteritis, Cholecystitis, Pneum... ORPHA:533
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Emotional lability, Keratitis, Hyperactivity, Osteomyelitis OMIM:256800
Brucellosis
Epididymitis, Endocarditis, Pericarditis, Arteritis, Depression, Hip osteoarthritis, Orchitis, Pn... ORPHA:1304
American Trypanosomiasis
Skin rash, Encephalitis, Myocarditis ORPHA:3386
Brooks-Wisniewski-Brown syndrome
Cerebral atrophy, Small for gestational age, EEG abnormality, Hyperactivity, Microcephaly, Agenes... OMIM:300612
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Disorganization of the anterior cerebellar vermis, Cerebellar hypoplasia, Retrocereb... OMIM:300486
Seckel Syndrome 1
Pachygyria, Cerebellar vermis hypoplasia, Large basal ganglia, Hyperactivity, Microcephaly OMIM:210600
Hyperlysinemia
Recurrent pneumonia, EEG with spike-wave complexes, Failure to thrive, Hyperactivity, Dysmetria, ... ORPHA:2203
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Reynolds Syndrome
Skin rash, Keratoconjunctivitis sicca, Encephalitis, Arthritis ORPHA:779
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Impaired social interactions, Arnold-Chiari malformation, Aggressive behavior, Self-injurious beh... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Impaired social interactions, Arnold-Chiari malformation, Aggressive behavior, Self-injurious beh... ORPHA:353277
Q Fever
Endocarditis, Pericarditis, Cholecystitis, Maculopapular exanthema, Pneumonia, Weight loss, Hepat... ORPHA:781
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Fatigable weakness of swallowing muscles, Disinhibition, Ag... ORPHA:581
Dyrk1A-Related Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Gait disturbance, Anterior pituitary hypoplasia, Primary micro... ORPHA:464306
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:607944
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Hypoplasia of the corpus callosum, Primary microcephaly, Irritabili... ORPHA:447997
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Neoplasm of the pancreas, Premature ovarian insufficiency, Microcytic anemia ORPHA:2959
Avian Influenza
Myelitis, Pneumonia, Conjunctivitis, Hepatitis, Encephalitis ORPHA:454836
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Chikungunya
Skin rash, Depression, Diminished motivation, Maculopapular exanthema, Synovitis, Crusting erythe... ORPHA:324625
Bone Marrow Failure Syndrome 3
Microcephaly, Failure to thrive, Eczema, Hyperactivity OMIM:617052
Yellow Fever
Lethargy, Encephalitis ORPHA:99829
Nocardiosis
Peritonitis, Cutaneous abscess, Endocarditis, Pericarditis, Scleritis, Lymphadenitis, Thyroiditis... ORPHA:31204
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Premature ov... OMIM:251260
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Failure to thrive, Hyperactivity, Microcephaly ORPHA:239
Immunodeficiency 59 And Hypoglycemia
Arteritis, Stomatitis, Encephalitis, Acne inversa, Recurrent skin infections OMIM:233600
Monosomy 22Q13.3
Hair-pulling, Recurrent pyelonephritis, Cerebellar cortical atrophy, Hyperactivity, Recurrent ski... ORPHA:48652
Coffin-Siris Syndrome
Aggressive behavior, Aspiration pneumonia, Simplified gyral pattern, Hyperactivity, Microcephaly,... ORPHA:1465
Argininemia
Cerebellar atrophy, Spastic gait, Irritability, Hyperactivity OMIM:207800
Stankiewicz-Isidor Syndrome
Pineal cyst, Hyperactivity OMIM:617516
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypoplasia of the corpus callosum, Failure to thrive, Hyperactivity, Eczema, Large for gestationa... OMIM:607721
Witteveen-Kolk Syndrome
Aggressive behavior, Hypoplasia of the corpus callosum, Obesity, Dysplastic corpus callosum, Smal... OMIM:613406
Distal Monosomy 12Q
Self-mutilation, Pituitary adenoma, Failure to thrive in infancy, Obesity, Hyperactivity, Microce... ORPHA:96149
Zygomycosis
Peritonitis, Pustule, Nephritis, Endocarditis, Pericarditis, Acute infectious pneumonia, Colitis,... ORPHA:73263
Monosomy 9Q22.3
Hyperactivity, Large for gestational age, Arnold-Chiari malformation, Calcification of falx cerebri ORPHA:77301
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Hyperactivity, Abnormal emotion/affect behavior, Difficulty walking, Septic arth... ORPHA:642
Mucopolysaccharidosis Type 2
Progressive neurologic deterioration, Aggressive behavior, Hyperactivity, Hip osteoarthritis, Imp... ORPHA:580
Smith-Lemli-Opitz Syndrome
Self-mutilation, Aggressive behavior, Hypoplasia of the corpus callosum, Recurrent otitis media, ... OMIM:270400
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Dystonia, Hypoplasia of the corpus callosum, Abnormal cereb... ORPHA:178469
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the corpus callosum, Olivopontocerebellar hypoplasia, Agenesis of corpus callosum, ... ORPHA:457284
Histidinemia
Hyperactivity ORPHA:2157
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Hepatitis, Encephalitis, Chronic mucocutaneous candidiasis, Eczema, ... ORPHA:391487
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss, Hyperactivity ORPHA:424
Immunoglobulin A Vasculitis
Skin rash, Pustule, Orchitis, Episcleritis, Encephalitis, Arthritis ORPHA:761
Maternal Phenylketonuria
Hypoplasia of the corpus callosum, Microcephaly, Hyperactivity ORPHA:2209
Rubinstein-Taybi Syndrome 1
Self-mutilation, Agoraphobia, Truncal obesity, Impulsivity, EEG abnormality, Unsteady gait, Abnor... OMIM:180849
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity ORPHA:99819
Tetrasomy 9P
Pachygyria, Pericarditis, Polymicrogyria, Inappropriate behavior, Hyperactivity, Myositis, Dandy-... ORPHA:3310
8Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Poor eye contact, Ectopic posterior pituitary, Low frustration... ORPHA:508488

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 Hivep2

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 Hivep2.

No publications found that use IMPC mice or data for Hivep2.

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MGI Allele Allele Type Produced
Hivep2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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