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Gene: Rap1gap2 MGI:3028623

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Gene Summary

Name:
RAP1 GTPase activating protein 2
Synonyms:
Garnl4,  LOC380710

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
hyperactivity Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 9.76×10-10
abnormal auditory brainstem response Rap1gap2tm1b(EUCOMM)Hmgu HOM   Early adult 5.75×10-09
increased aggression Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 2.98×10-06
increased circulating phosphate level Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 2.52×10-05
increased heart weight Rap1gap2tm1b(EUCOMM)Hmgu HOM Early adult 9.35×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Rap1gap2 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 Rap1gap2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 56
Ataxia, EEG abnormality, Broad-based gait, Anxiety, Attention deficit hyperactivity disorder OMIM:617665
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94090
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hyperphosphatemia, Polyuria, And Seizures
Irritability, Hyperphosphatemia OMIM:239350
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Immunodeficiency 8
Hyperactivity OMIM:615401
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Irritability, Hypocalcemia, Anxie... ORPHA:36913
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality ORPHA:436151
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Hyperprolinemia, Type I
Aggressive behavior, Hyperprolinemia, Hyperactivity, Ataxia, EEG abnormality OMIM:239500
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Irritability, Hypocalcemia, Anxie... ORPHA:94089
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Ethanolaminosis
Cardiomegaly OMIM:227150
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia, Hearing impairment OMIM:614207
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Sensorineural hearing ... OMIM:616648
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Hypophosphatemic Rickets, Autosomal Recessive, 1
Sensorineural hearing impairment, Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Lethargy OMIM:605899
8p23.1 deletion syndrome
Atrioventricular canal defect, Hyperactivity, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Autosomal Dominant Hypocalcemia
Optic atrophy, Writer's cramp, Hypomagnesemia, Emotional lability, Hypocalcemia, Anxiety, Hyperph... ORPHA:428
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves during slow s... OMIM:301008
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Optic atrophy, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... OMIM:125250
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, EEG with focal sharp slow waves, Hyperactivity, EEG abnormality ORPHA:2382
Mohr-Tranebjaerg Syndrome
Dystonia, Optic atrophy, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... ORPHA:52368
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Attention deficit hyperactivity diso... OMIM:261600
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Steppage gait, Aggressive behavior, EEG with generalized epilepti... ORPHA:98818
Paget Disease Of Bone 5, Juvenile-Onset
Sensorineural hearing impairment, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Focal EEG discharges with secondary ... ORPHA:3077
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Abnormality of the pinna, Hyperactivity, Ataxia OMIM:300983
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Macrotia, Posteriorly rotated ears, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Prominent ear helix ORPHA:100973
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Elevated circulating gamma-aminobuty... OMIM:271980
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia, Optic atrophy OMIM:300928
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Ataxia, Emotional labi... ORPHA:206443
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Laryngeal dystonia, Irritability, Hypocal... ORPHA:79444
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Optic atrophy, Broad-based gait OMIM:619470
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Cln5 Disease
Dysmetria, Aggressive behavior, EEG with generalized slow activity, Multifocal epileptiform disch... ORPHA:228360
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Hyperactivity, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Laryngeal dystonia, Sensorineural hearing... ORPHA:79443
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Rasmussen Subacute Encephalitis
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... ORPHA:1929
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, X-Linked 107
Abnormality of superior crus of antihelix, Aggressive behavior, Macrotia, Hyperactivity, Prominen... OMIM:301013
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia, Hearing impairment ORPHA:457059
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, S... ORPHA:1215
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Elevated creatine kin... ORPHA:423
Kenny-Caffey Syndrome, Type 2
Papilledema, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait ORPHA:411515
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety OMIM:616977
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, EEG abnormality, Posteriorly rotated ears OMIM:617773
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, H... ORPHA:88616
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Aggressive behavior, Cardiomegaly, Splenomegaly, Hearing impairment, Hyperactivity,... OMIM:252920
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Aggressive behavior OMIM:618342
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hyperphosphatemia, Hearing impairment OMIM:101800
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Hyperactivity, Inability to walk, EEG abnormality OMIM:618718
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Optic Atrophy 11
Optic atrophy, Dysmetria, Facial diplegia, Macrotia, Hearing impairment, Hyperactivity, Ataxia OMIM:617302
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Hearing impairment ORPHA:457260
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Hepatomegaly, Interictal epileptiform activity, Aggressive behavior, Self-mutilatio... ORPHA:163681
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, EEG abnormality, Gait ataxia ORPHA:500180
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hypsarrhythmia, Pulmonic stenosis, EEG with burst suppression, Hyperactivity, Atrial septal defect OMIM:619239
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal ... ORPHA:157215
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears ORPHA:251383
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, EEG with series of focal spikes, Aggressive behavior, EEG with photoparoxysmal ... ORPHA:168491
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Ataxia, Hypocalcemia, Hyperphos... ORPHA:466650
Coffin-Siris Syndrome 7
Abnormal heart morphology, Macrotia, Posteriorly rotated ears, Hearing impairment, Hyperactivity,... OMIM:618027
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, S... OMIM:617713
Familial Isolated Hyperparathyroidism
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99879
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Hearing impairment, Hyperactivity, Dysplastic pulmonary valve, Broad-based gait OMIM:300958
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619467
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears OMIM:300831
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, Elevated circulating creatine kinase concentration, EEG with multifocal slow activ... OMIM:616809
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormal heart morphology, Self-mutilation, Hearing ... OMIM:182290
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Hypernatremia, Neonatal hyperbilirubinemia, Sensorineural he... ORPHA:529799
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Hyperphosphatemia, Hypocalcemia ORPHA:280651
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Hyperactivity, Attention deficit hyperactivity disorder, Macrotia OMIM:618504
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, EEG w... ORPHA:485350
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypophosphatemia, Difficulty walking, Hypocalcemic seizures OMIM:264700
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypophosphatemia, Difficulty walking, Hypocalcemic seizures OMIM:277440
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior, Optic atrophy, Hearing impairment ORPHA:369939
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Abnormal circulating creatine concentration, Aganglionic megacolon, Self-mut... ORPHA:52503
Colchicine Poisoning
Myocarditis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal ... ORPHA:31824
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior, Macrotia OMIM:300558
Cystinosis
Gait disturbance, Hypophosphatemia, Hypokalemia ORPHA:213
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Waddling gait, Hypophosphatemia, Hearing impairment OMIM:156400
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Irritability, Hypocalcemia, Difficulty walking ORPHA:289157
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Adult Krabbe Disease
Gait disturbance, Ataxia, EEG abnormality, Broad-based gait, Prolonged brainstem auditory evoked ... ORPHA:206448
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Subvalvular aortic stenosis, Sensorineural hearing ... OMIM:600430
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality OMIM:610042
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypophosphatemia, Hypocalcemia ORPHA:93160
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Hereditary Fructose Intolerance
Hepatomegaly, Hypophosphatemia, Hyperuricemia, Hypermagnesemia, Lethargy ORPHA:469
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior ORPHA:101039
Charcot-Marie-Tooth Disease Type 1F
Steppage gait, Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve condu... ORPHA:101085
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemia, Difficulty walking, Hypophosphatemic rickets OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Difficulty walking OMIM:600081
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hepatomegaly, Calcinosis, Hypophosphatemia, Splenomegaly OMIM:239200
Myopathy With Extrapyramidal Signs
Dystonia, Optic atrophy, Ventricular septal defect, Hepatomegaly, Elevated circulating creatine k... OMIM:615673
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Adult-Onset Autosomal Dominant Leukodystrophy
Gait disturbance, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potent... ORPHA:99027
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormality of peripheral nerve conduction, Optic atrophy, Hyperactiv... ORPHA:35069
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Hyperactivity, Attention deficit hyperactivity disorder, Abnormal cardiac septum mo... OMIM:614294
Mogs-Cdg
Dystonia, Optic atrophy, Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensori... ORPHA:79330
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Self-biting, Aggressive behavior, Low-set, posteriorly rotated ears, H... ORPHA:3306
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressiv... ORPHA:247585
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia, Limb dystonia ORPHA:363400
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Abnormality of the pinna, Macrotia, Hyperactivity, Ataxia, Thic... OMIM:614104
16P12.1P12.3 Triplication Syndrome
Large earlobe, Skin-picking, Abnormal heart morphology, Abnormal tricuspid valve morphology, Hype... ORPHA:485405
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Oncogenic Osteomalacia
Gait disturbance, Hypophosphatemia, Hypocalcemia ORPHA:352540
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Hearing impairment, Hyperactivity, Asymmetric septal hypertrophy OMIM:252900
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia OMIM:227810
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Aggressive behavior, Macrotia, Hearing impa... ORPHA:369891
Mend Syndrome
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Abnormal heart morphology, Aggres... ORPHA:401973
Fragile X Syndrome
Hyperactivity, Macrotia, Mitral valve prolapse OMIM:300624
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse, Self-injurious behavior, Aggressive behavior, Macrotia, Hyperactivity, Irr... ORPHA:449291
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Left ... ORPHA:85451
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Optic disc pallor, Optic atrophy, Abnormal auditory evoked potentials... ORPHA:909
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Potocki-Lupski Syndrome
Hypocholesterolemia, Hearing impairment, Hyperactivity, Atrial septal defect, EEG abnormality, Pa... OMIM:610883
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Hearing impairment OMIM:618838
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... ORPHA:3240
Cockayne Syndrome Type 1
Gait disturbance, Optic atrophy, Hepatomegaly, Absent brainstem auditory responses, Macrotia, Hea... ORPHA:90321
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Macrotia ORPHA:391307
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Sensorineural hearing impairment, Hyperactivity, Atrial septal defect, Broad... OMIM:609625
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Abnormality of the pinna, Hyperactivity, Gait ataxia OMIM:300354
Rubinstein-Taybi Syndrome 2
Hyperactivity, Posterior helix pit OMIM:613684
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Congenital sensorineural hearing impairment, Sensorineural hearing i... ORPHA:73272
Fanconi-Bickel Syndrome
Hepatomegaly, Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Cri-Du-Chat Syndrome
Optic atrophy, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Abnormality... OMIM:123450
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Aggressive behavior, Hyperactivity, Emotional lability, Abnormally fol... OMIM:309520
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Ataxia, Hyperactivity, EEG abnormality, Broad-based gait, EEG wit... ORPHA:98794
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Danon Disease
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Hearing impairment, Irritability, Prolonged b... ORPHA:206436
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Gait disturbance, Aggressive behavior, Hyperactivity, Attention d... ORPHA:43
Adenylosuccinase Deficiency
Happy demeanor, Aggressive behavior, Self-mutilation, Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional la... OMIM:610217
Argininemia
Hepatomegaly, Spastic gait, Hyperammonemia, Hyperactivity, Irritability, Hyperargininemia OMIM:207800
Alport Syndrome 3, Autosomal Dominant
Sensorineural hearing impairment, Azotemia, Hypophosphatemia OMIM:104200
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Fructose Intolerance, Hereditary
Hepatomegaly, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturi... OMIM:229600
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia, Hearing impairment, Antalgic gait, Difficulty walking ORPHA:249
Pearson Syndrome
Hepatomegaly, Hypokalemia, Abnormal heart morphology, Hypophosphatemia, Cardiomyopathy, Hyperalan... ORPHA:699
19P13.3 Microduplication Syndrome
Ventricular septal defect, Self-injurious behavior, Posteriorly rotated ears, Hyperactivity, Irri... ORPHA:447980
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Anxiety OMIM:618430
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability, Postural hypotension with compensatory tachyc... OMIM:256800
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe OMIM:300143
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation, Hearing impairment ORPHA:412035
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Ataxia ORPHA:228402
Raine Syndrome
Hypophosphatemia, Posteriorly rotated ears, Abnormality of the pinna, Mixed hearing impairment, P... OMIM:259775
Juvenile Nephropathic Cystinosis
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... ORPHA:411634
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity, Neonatal hyperbilirubinemia OMIM:609727
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Hearing impairment, Hyperactivity, Asymmetric septal hypertrophy OMIM:252930
19P13.12 Microdeletion Syndrome
Conductive hearing impairment, Ventricular septal defect, Hyperlipidemia, Self-injurious behavior... ORPHA:254346
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Macrotia, Hyperactivity, Low frustration tolerance, Gait ataxia OMIM:300486
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Hyperactivity, Ataxia, Posteriorly rotated ears OMIM:601853
Opsismodysplasia
Hypophosphatemia OMIM:258480
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Protruding ear, Hypokalemia, Self-injurious behavior, Hypophosphatemia, Low-set, po... ORPHA:534
Mend Syndrome
Hyperactivity, Aortic valve stenosis OMIM:300960
Cockayne Syndrome A
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Hepatomegaly, Abnormality o... OMIM:216400
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Optic nerve compression, Hypophosphatemia, Hearing impairment, Splenomegaly, Hypoca... ORPHA:667
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... ORPHA:405
Dent Disease 1
Hypophosphatemia OMIM:300009
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly, Hearing impairment, Hyperactivity, Asymmetric septal hypertrophy OMIM:252940
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... ORPHA:3337
Angelman Syndrome
Optic atrophy, Optic disc pallor, Happy demeanor, Self-injurious behavior, Aggressive behavior, H... ORPHA:72
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Abnormal heart morphology, Macrotia, Poster... ORPHA:171929
Choreoacanthocytosis
Dilated cardiomyopathy, Self-injurious behavior, Oromandibular dystonia, Apathy, Splenomegaly, Ir... ORPHA:2388
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Optic nerve hypoplasia, Self-mutilation, Low frustration tolerance ORPHA:363686
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy ORPHA:530983
Mccune-Albright Syndrome
Hypophosphatemia, Hearing impairment ORPHA:562
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Abnormal circulating fatty-acid concentration, Hearing impairment, H... ORPHA:139396
Infantile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration ORPHA:411629
Cockayne Syndrome B
Optic atrophy, Hepatomegaly, Abnormal auditory evoked potentials, Abnormality of the pinna, Decre... OMIM:133540
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Hypouricemia, Ataxia, Sensorineural hearing impairment ORPHA:760
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Aggressive behavior, Shuffling gait, Macrotia, Hyperactivity, Low frustration tolerance, Protrudi... OMIM:300534
Pediatric-Onset Graves Disease
Mood swings, Hepatomegaly, Splenomegaly, Hyperactivity, Irritability ORPHA:525731
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... ORPHA:79102
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Aggressive behavior, Macrotia, Hearing impairment, Hyperactivity, Atrial septal... ORPHA:363528
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormality of the optic disc, Hearing impairment,... OMIM:617516
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Aggressive behavior, Hyperactivity, EEG abnormality, Broad-based gait ORPHA:85293
Chromosome 13Q33-Q34 Deletion Syndrome
Aggressive behavior, Posteriorly rotated ears, Hearing impairment, Left ventricular hypertrophy, ... OMIM:619148
White-Sutton Syndrome
Optic atrophy, Self-injurious behavior, Abnormal heart morphology, Aggressive behavior, Posterior... ORPHA:468678
Angelman Syndrome
Hyperactivity, EEG abnormality, Progressive gait ataxia, Broad-based gait OMIM:105830
Early Infantile Epileptic Encephalopathy
Dystonia, Ventricular septal defect, Self-injurious behavior, Hypsarrhythmia, EEG with burst supp... ORPHA:1934
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Macrotia, Hypsarrhythmia, Hyperactivity, Ataxia, Anxiety OMIM:300912
Mucopolysaccharidosis Type 3
Gait disturbance, Conductive hearing impairment, Optic atrophy, Hepatomegaly, Abnormal mitral val... ORPHA:581
Helsmoortel-Van Der Aa Syndrome
Abnormal heart morphology, Hyperactivity, Low-set, posteriorly rotated ears OMIM:615873
Legius Syndrome
Dystonia, Mitral valve prolapse, Vestibular Schwannoma, Hearing impairment, Pulmonic stenosis, Hy... ORPHA:137605
7Q11.23 Microduplication Syndrome
Large earlobe, Ventricular septal defect, Abnormal earlobe morphology, Self-injurious behavior, D... ORPHA:96121
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:99880
Brain-Lung-Thyroid Syndrome
Dystonia, Ventricular septal defect, Falls, Sensorineural hearing impairment, Hyperactivity, Atax... ORPHA:209905
Hyperlysinemia
Hypoornithinemia, Dysmetria, Hyperammonemia, Hyperactivity, Hypoplasia of the antihelix, Tip-toe ... ORPHA:2203
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia ORPHA:143
Autosomal Recessive Hypophosphatemic Rickets
Sensorineural hearing impairment, Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait, Protruding ear, Short ear OMIM:614756
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Optic atrophy, Hepatomegaly, Abnormal mitral valve morphology, Oto... ORPHA:580
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hyperactivit... ORPHA:2209
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Ventricular septal defect, Pericardial effusion, Sensorineural hea... OMIM:235510
X-Linked Hypophosphatemia
Sensorineural hearing impairment, Hypophosphatemia ORPHA:89936
Dent Disease
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria ORPHA:1652
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Overfolded helix, Conspicuously happy dispositi... OMIM:610443
Joubert Syndrome 1
Optic disc pallor, Aggressive behavior, Self-mutilation, Optic disc coloboma, Hyperactivity, Ataxia OMIM:213300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Torticollis, Hearing impairment, Irritability, Anxiety, Protruding ear, Ve... OMIM:619475
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Hyperactivity, Irritability, Protruding ear ORPHA:447997
Hypophosphatemic Rickets
Hypercalcemia, Hypophosphatemia ORPHA:437
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Conductive hearing impairment, Bicuspid aortic valve, Ven... ORPHA:353281
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Brooks-Wisniewski-Brown syndrome
Optic atrophy, Posteriorly rotated ears, Hyperactivity, EEG abnormality, Cupped ear, Protruding ear OMIM:300612
Coffin-Siris Syndrome
Ventricular septal defect, Abnormal heart morphology, Aggressive behavior, Hearing impairment, Hy... ORPHA:1465
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Optic atrophy, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blephar... OMIM:234200
Distal Trisomy 17Q
Abnormal heart morphology, Low-set, posteriorly rotated ears, Hyperactivity, Bilateral sensorineu... ORPHA:3379
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Ventricular septal defect, Optic disc pallor, Macrotia, Hyperactivity, Anxiety,... ORPHA:464306
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Posteriorly rotated ears, Pulmonic stenos... OMIM:607721
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Self-mutilation, Abnormality of the autonom... ORPHA:642
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Aganglionic megacolon, Elevated 7-dehydrocholesterol, Hypocholesterole... OMIM:270400
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Attent... ORPHA:805
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Conductive hearing impairment, Bicuspid aortic valve, Ven... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Conductive hearing impairment, Bicuspid aortic valve, Ven... ORPHA:353284
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424

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 Rap1gap2

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 Rap1gap2.

No publications found that use IMPC mice or data for Rap1gap2.

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MGI Allele Allele Type Produced
Rap1gap2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Rap1gap2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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