Gene Summary

Name:
patched domain containing 1
Synonyms:
9630036J22Rik

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 Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 1.58×10-12
abnormal locomotor behavior Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 9.39×10-06
abnormal contextual conditioning behavior Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 4.36×10-05
hyperactivity Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 2.76×10-13
abnormal vocalization Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 4.84×10-06
increased aggression Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 3.38×10-06
decreased erythrocyte cell number Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 5.03×10-05
abnormal auditory brainstem response Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 7.59×10-09
increased lean body mass Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 9.78×10-05
abnormal spleen morphology Ptchd1tm1b(KOMP)IcsOrl HEM Early adult 0.00
increased exploration in new environment Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 5.15×10-07
abnormal cued conditioning behavior Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 3.33×10-05
increased exploration in new environment Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 1.61×10-05
decreased bone mineral density Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 8.13×10-05
increased vertical activity Ptchd1tm1b(KOMP)IcsOrl HEM   Early adult 7.91×10-14
increased circulating creatinine level Ptchd1tm1b(KOMP)IcsOrl HOM   Early adult 5.02×10-05

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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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

1 Images

Human diseases caused by Ptchd1 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 Ptchd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autism, Susceptibility To, X-Linked 4
Generalized hypotonia, Attention deficit hyperactivity disorder, Aggressive behavior, Hypotonia OMIM:300830
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Moderate sensorineural hearing impairment, Attention deficit hyperacti... ORPHA:777

The table below shows human diseases predicted to be associated to Ptchd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperlysinemia, Type I
Anemia, Hyperlysinemia, Hyperactivity, Cognitive impairment OMIM:238700
X-Linked Complicated Spastic Paraplegia Type 1
Mental deterioration, Ataxia, Spastic paraplegia, Cognitive impairment ORPHA:306617
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Deficit in phonologic short-term memory, Anxiety, Attention deficit hyperac... ORPHA:280397
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Hearing impairment, Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:620038
Foix-Chavany-Marie Syndrome
Gait disturbance, Cognitive impairment ORPHA:2048
Spinocerebellar Degeneration With Slow Eye Movements
Gait disturbance, Cognitive impairment OMIM:271322
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Limb ataxia, Cognitive impairment, Generalized hypotonia, Truncal ataxia, Difficulty walking ORPHA:363432
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Generalized hypotonia, Aggressive behavior, Spasticity, Hypotonia OMIM:615493
Autism, Susceptibility To, X-Linked 4
Generalized hypotonia, Attention deficit hyperactivity disorder, Aggressive behavior, Hypotonia OMIM:300830
Autosomal Recessive Spastic Paraplegia Type 56
Tip-toe gait, Cognitive impairment, Spastic paraplegia, Unsteady gait, Spastic gait, Dystonia ORPHA:320411
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Tip-toe gait, Cognitive impairment, Spastic paraplegia, Unsteady gait, Dystonia OMIM:615030
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity, Hypotonia DECIPHER:20
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity, Spasticity, Spastic tetraplegia, Hypotonia, Irritability OMIM:616657
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Ataxia, Hypotonia, Cognitive impairment ORPHA:1178
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Hypertonia, Tip-toe gait, Cognitive impairment, Unsteady gait, EEG with generalized slow activity... ORPHA:2386
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Anxiety, Difficulty walking, Attention deficit hyperacti... OMIM:619191
Lennox-Gastaut Syndrome
EEG abnormality, Hyperactivity, Mental deterioration, Falls, Aggressive behavior, EEG with focal ... ORPHA:2382
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia, Memory impairment, Spasticity, Dementia OMIM:604121
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Inability to walk, Attention deficit hyperactivity disorder, Aggressive behavior, Hypotonia, Lowe... OMIM:619639
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Osteopenia, Decreased body weight, Hyperactivity OMIM:608747
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Memory impairment, Falls, Motor deterioration, Shuffling gait, Inertia, Frontote... ORPHA:412066
Hyperprolinemia, Type I
Ataxia, EEG abnormality, Hyperactivity, Generalized hypotonia, Aggressive behavior, Hypotonia OMIM:239500
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spinocerebellar Ataxia 14
Progressive cerebellar ataxia, Dysmetria, Mental deterioration, Memory impairment, Gait ataxia, A... OMIM:605361
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Rigidity, Oral motor hypo... ORPHA:248111
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Social and occupational deterioration, Hyperactivity, Continuous s... ORPHA:98818
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Abnormal auditory evoked potentials ORPHA:99852
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, EEG with parietal focal spikes, Mental deterioration, Spastic hemi... ORPHA:268947
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, EEG abnormality, Hyperactivity ORPHA:436151
Cln5 Disease
EEG with focal spikes, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave complexes, D... ORPHA:228360
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Hypsarrhythmia OMIM:619970
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Anxiety, Rigidity, Memory impairment, Dystonia ORPHA:401901
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Spasticity, Dystonia OMIM:615924
Smith-Magenis syndrome
Hypotonia, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Anxiety, Athetosis, Dementia OMIM:615483
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Rasmussen Subacute Encephalitis
EEG with focal spikes, Inability to walk, Hyperactivity, Hemidystonia, Cognitive impairment, Inte... ORPHA:1929
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Dysmetria, Generalized hypotonia, Rigidity, Gait disturbance OMIM:618090
Pitt-Hopkins-Like Syndrome 1
Ataxia, EEG abnormality, Hyperactivity, Progressive language deterioration, Generalized hypotonia... OMIM:610042
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait ataxia, Aggressive beh... OMIM:609425
Epilepsy, Familial Adult Myoclonic, 2
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Cognitive impairment, Jerk-locked premy... OMIM:607876
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity, Generalized hypotonia, Attention deficit hyperactivity disorder, Hypsarrhy... OMIM:617113
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Optic atrophy, Aggressive behavior, Elbow flexion contracture OMIM:619470
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity, Hypotonia OMIM:613402
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... ORPHA:320401
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Cognitive impairment, Athetosis, EEG with abnormally slow frequencies, Difficulty walking... ORPHA:280219
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Abnormal aggressive, imp... ORPHA:3077
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Memory impairment, Self-biting, EEG with generalized epil... OMIM:619827
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with focal spikes, Ataxia, Hyperactivity, Progressive language deterioration, Self-mutilation... ORPHA:163681
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Ataxia, Inability to walk, Hyperactivity, EEG with spike-wave ... ORPHA:168491
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Cognitive impairment, Schistocytosis, Elevated cir... OMIM:235400
Intellectual Developmental Disorder, X-Linked 104
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Aggressive behavior OMIM:300983
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... ORPHA:206443
Glycine Encephalopathy
Hyperactivity, Generalized hypotonia, Aggressive behavior, Hypotonia, Irritability OMIM:605899
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, EEG abnormality, Self-injurious behavior, Hyperactivity, Anxiety, Generalized hypotonia, ... OMIM:271980
Myopathy, Centronuclear, 4
Hypotonia, Generalized hypotonia, Cognitive impairment OMIM:614807
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior, Hypotonia, Dystonia ORPHA:382
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... OMIM:125250
Coffin-Siris Syndrome 8
Failure to thrive, Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:618362
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Mental deterioration, Cognitive impairment, Dysdiadochokinesis, G... OMIM:617145
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Aminoacylase 1 Deficiency
Generalized hypotonia, Hyperactivity, Hypotonia OMIM:609924
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, EEG with focal epileptiform discharges, Generalized hypotonia, EEG with generalize... ORPHA:88616
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity, Aggressive behavior ORPHA:100973
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Choreoathetosis, Aggressive behavior, Spasticity, Dystonia, Axial hypotonia OMIM:612716
Ataxia-Oculomotor Apraxia 4
Ataxia, Dystonia, Cognitive impairment OMIM:616267
3-Methylglutaconic Aciduria, Type I
Ataxia, Self-mutilation, Cognitive impairment, Athetosis, Spasticity, Spastic tetraplegia, Dyston... OMIM:250950
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Self-injurious behavior, Infantile muscular hypotonia, EEG abno... OMIM:618718
Spinocerebellar Ataxia 5
Dysmetria, Limb ataxia, Cognitive impairment, Dysdiadochokinesis, Generalized hypotonia, Gait ata... OMIM:600224
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Hyperactivity, Obesity ORPHA:411515
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Infantile muscular hypotonia, EEG abnormality, Limb hypertonia,... ORPHA:500180
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Mental deterioration, Gait disturbance, Progressive spasticity, Psychomoto... ORPHA:35069
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Joint laxity, Aggressive behavior, Hearing impairment ORPHA:457260
Intellectual Developmental Disorder, Autosomal Recessive 38
Neonatal hypotonia, Hyperactivity, Self-mutilation, Generalized hypotonia, Aggressive behavior, U... OMIM:615516
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... OMIM:601455
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia, Mental deterioration, Memory impairment, Spasticity ORPHA:314404
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... OMIM:301008
Xq25 Microduplication Syndrome
Facial hypotonia, Generalized hypotonia, Anxiety, Hyperactivity ORPHA:521258
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Abnormality of superior crus of antihelix, Prominent crus of helix, Atten... OMIM:301013
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Phenylketonuria
Hyperactivity, Self-mutilation, Anxiety, Maternal hyperphenylalaninemia, Attention deficit hypera... OMIM:261600
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Generalized hypotonia, Hyperactivity OMIM:617182
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Joint hypermobility, Abnormal cortical bone mo... OMIM:300831
Dystonia 9
Cognitive impairment, Spastic paraplegia, Choreoathetosis, Dystonia, Episodic ataxia OMIM:601042
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Progressive neurologi... OMIM:252920
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Cognitive impairment, Interictal epileptiform activity, Increased theta fr... ORPHA:98784
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity, Macrotia OMIM:300928
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Irritability, Hyponatremia OMIM:300539
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Joint hypermobility, Posteriorly rotated ears,... ORPHA:251383
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Niemann-Pick Disease Type C
Narcolepsy, Apathy, Ataxia, Axial dystonia, Cognitive impairment, Mental deterioration, Progressi... ORPHA:646
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Happy demeanor, Hypertonia, Hyperactivity, Generalized hypotonia, Unsteady gait OMIM:617865
Intellectual Developmental Disorder, Autosomal Recessive 61
EEG abnormality, Hyperactivity, Dysmetria, Spasticity, Aggressive behavior, Unsteady gait, Hypsar... OMIM:617773
Clcn4-Related X-Linked Intellectual Disability Syndrome
EEG with focal spikes, Progressive cerebellar ataxia, Self-injurious behavior, Hyperactivity, Inf... ORPHA:485350
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, EEG with focal spike waves, EEG with polyspike wave complexes, Abnormal em... ORPHA:1942
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Apathy, Cognitive impairment, Anxiety, Normocytic anemia, Progressive neurologic deterioration, M... ORPHA:247691
Intellectual Developmental Disorder, Autosomal Recessive 39
Anteverted ears, Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Chromosome Xq25 Duplication Syndrome
Facial hypotonia, Generalized hypotonia, Anxiety, Hyperactivity OMIM:300979
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Optic Atrophy 11
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Optic atrophy, Macrotia, Hearing impairment OMIM:617302
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairment, Gait ataxia, ... ORPHA:363400
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... OMIM:601596
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Gait disturbance, Progressive spastic paraparesis, Attention... ORPHA:43
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Self-injurious behavior, Anxiety, Aggressive behavior, Spasticity, Hypotonia OMIM:619467
Abcd Syndrome
Polycythemia, Large for gestational age, Abnormal auditory evoked potentials, Total intestinal ag... OMIM:600501
Cerebral Creatine Deficiency Syndrome 2
Aggressive behavior, Elevated circulating guanidinoacetic acid concentration, Decreased serum cre... OMIM:612736
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment ORPHA:369939
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Self-injurious behavior, Hyperactivity, Cognitive impairment, Generalized hyp... OMIM:601853
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... OMIM:274150
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Decreased body weight, Hyperactivity, Aggressive behavior, Hearing impairment OMIM:300958
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Generalized hypotonia, Aggressive behavior, Spasticity, Hypotonia OMIM:615286
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... ORPHA:3202
Adult Krabbe Disease
Broad-based gait, Ataxia, EEG abnormality, Mental deterioration, Progressive neurologic deteriora... ORPHA:206448
Dentatorubral Pallidoluysian Atrophy
Oromandibular dystonia, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Blepharospasm, Limb a... ORPHA:101
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Developmental And Epileptic Encephalopathy 103
Ataxia, Hyperactivity, Opisthotonus, EEG with polyspike wave complexes, Continuous spike and wave... OMIM:619913
Intellectual Developmental Disorder, Autosomal Dominant 7
Happy demeanor, Abnormal pinna morphology, Ataxia, Hyperactivity, Small for gestational age, Fail... OMIM:614104
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Clark-Baraitser Syndrome
Large earlobe, Hyperactivity, Anxiety, Aggressive behavior, Obesity, Low-set ears OMIM:617752
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Flexion contracture of fin... ORPHA:101085
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Ataxia, Flexion contracture, Abnormal autonomic nervous system ... ORPHA:99027
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Thrombocytopenia OMIM:608104
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Protruding ear, Decreased body weight, Hepatomegaly, Hyperactiv... OMIM:618342
Neurodegeneration With Brain Iron Accumulation 2B
Hypertonia, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Gait ataxia, Spas... OMIM:610217
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Self-mutilation, Cachexia, Joint hyperflexibility, Athetosis, Aganglionic ... ORPHA:52503
Early-Onset Schizophrenia
Cognitive impairment, Abnormal emotion/affect behavior, Anxiety, Suicidal ideation, Anhedonia, At... ORPHA:96369
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve condu... ORPHA:909
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Hyperactivity, Opisthotonus, Self-mutilation, Generalized hypo... OMIM:103050
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Hyperactivity, Aggressive behavior, Macrotia OMIM:300558
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Finger joint hypermobility, Anxiety, Autoimmune thrombocytopenia, Limited elbow ex... OMIM:301069
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Arthrogryposis, Distal, Type 2A
Hip contracture, Recurrent fractures, Flexion contracture of finger, Failure to thrive, Joint con... OMIM:193700
Fragile X Syndrome
Hyperactivity, Joint laxity, Self-biting, Macrotia OMIM:300624
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Abnormal pinna morphology, Hyperactivity, Gait ataxia, Joint laxity, Aggressiv... OMIM:300354
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia ORPHA:90060
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Graves Disease, Susceptibility To, 1
Weight loss, Hyperactivity, Irritability OMIM:275000
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Hyperactivity, Aggressive behavior ORPHA:101039
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, EEG abnormality, Broad-based gait, Hyperactivity, Limitat... ORPHA:98794
Epilepsy, Progressive Myoclonic, 10
Ataxia, Progressive cerebellar ataxia, Cognitive impairment, Spasticity, Spastic tetraplegia, Spa... OMIM:616640
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potenti... OMIM:201050
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Mental deterioration, Memory impairment, Gai... ORPHA:139396
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Motor deterioration, ... OMIM:252930
Histidinemia
Hyperhistidinemia, Histidinuria, Hyperactivity ORPHA:2157
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Dense calvaria, Hearing impairment OMIM:252900
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Failure to thrive, Congenital sensorineural hearing impairment,... ORPHA:73272
Infantile Krabbe Disease
Failure to thrive, Decreased nerve conduction velocity, Irritability, Mental deterioration, Cache... ORPHA:206436
Narcolepsy 3
Narcolepsy OMIM:609039
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Hyperactivity, Self-injurious behavior, Aggressive behavior, Ob... OMIM:600430
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting OMIM:618314
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia, Aggressive behavior, Macrotia, Irritability ORPHA:391307
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... ORPHA:247585
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Self-mutilation, Camptodactyly, Obesity, Hearing impairment ORPHA:412035
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 7
Narcolepsy OMIM:614250
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ataxia, EEG abnormality, Hyperactivity, Arthrogryposis-like hand anomaly, Camptodactyly, Hearing ... ORPHA:369891
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Hyperactivity, Anxiety, Aggressive behavior, Obesity, Low-set ears, Posteriorly rotated ears OMIM:618430
16P12.1P12.3 Triplication Syndrome
Large earlobe, Failure to thrive, Hyperactivity, Anxiety, Nail-biting, Attention deficit hyperact... ORPHA:485405
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Low-set, posteriorly rotated ears, Self-biting, Aggressive behavior, Joint hypermo... ORPHA:3306
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Intellectual Developmental Disorder, Autosomal Dominant 43
Failure to thrive, Ataxia, Hyperactivity, Microtia, Attached earlobe, Anxiety, Aggressive behavior OMIM:616977
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Myopathy With Extrapyramidal Signs
Ataxia, Hepatomegaly, Hyperactivity, Leukocytosis, Splenomegaly, Optic atrophy, Difficulty walkin... OMIM:615673
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Abnormal pinna morphology, Hyperactivity, Small for gestational ... OMIM:123450
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Ataxia, Hepatomegaly, Anemia, Abnormality... ORPHA:90321
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity, Joint hypermobility OMIM:300143
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... ORPHA:79126
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Hyperactivity, Anxiety, Joint laxity, Aggressive behavior, Attention def... ORPHA:449291
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... ORPHA:760
Cockayne Syndrome A
Sensorineural hearing impairment, Hip contracture, Abnormal pinna morphology, Ivory epiphyses of ... OMIM:216400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Chromosome 10Q26 Deletion Syndrome
Sensorineural hearing impairment, Broad-based gait, Protruding ear, Hyperactivity, Craniosynostos... OMIM:609625
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Glass Syndrome
Broad-based gait, Happy demeanor, Hyperactivity, Camptodactyly, Aggressive behavior, Low-set ears OMIM:612313
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Sensorineural hearing impairment, Failure to thrive, Hyperactivity, Aggressive behavior OMIM:615824
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Insensitivity To Pain, Congenital, With Anhidrosis
Osteomyelitis, Hyperactivity, Abnormal autonomic nervous system physiology, Self-mutilation, Post... OMIM:256800
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Failure to thrive, Protruding ear, Decreased body weight, Hyperactivity, Flexion ... OMIM:300534
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Pediatric-Onset Graves Disease
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Hyperactiv... ORPHA:525731
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron de... OMIM:618885
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, EEG abnormality, Hyperactivity, Cachexia, Camptodactyly of finger, Aggressive b... ORPHA:85293
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Cockayne Syndrome B
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Ivory epiphyses o... OMIM:133540
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent... ORPHA:36234
Angelman Syndrome
Broad-based gait, EEG abnormality, Hyperactivity, Generalized hypotonia, Progressive gait ataxia,... OMIM:105830
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity, Macrotia OMIM:618504
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Generalized hypotonia, Gait ataxia, Spasticity, Low frustration t... OMIM:300486
Argininemia
Hepatomegaly, Micronodular cirrhosis, Hyperactivity, Cholestasis, Portal fibrosis, Spastic gait, ... OMIM:207800
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Abnormally folded helix, Hyperactivity, Flexion contracture, Hyperextensibility of the finger joi... OMIM:309520
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Hepatosplenomegaly, Decreased HDL choleste... ORPHA:85450
Senior-Loken Syndrome 1
Anemia, Elevated circulating creatinine concentration OMIM:266900
Mend Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials, Low-s... ORPHA:401973
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Emotional lability OMIM:223900
Rauch-Steindl Syndrome
Failure to thrive, Protruding ear, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperactivity... OMIM:619695
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, EEG abnormality, Self-injurious behavior, Inability to ... ORPHA:72
Bone Marrow Failure Syndrome 3
Failure to thrive, Exocrine pancreatic insufficiency, Hyperactivity, Reduced bone mineral density... OMIM:617052
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Hyperactivity, Blepharospasm, Mental deterioration, Rigidity, Gait disturbance,... OMIM:234200
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Self-injurious behavior, Generalized hypotonia, Aggressive behavior, Emotional lability ORPHA:293987
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic anemia, Vestibular ... ORPHA:3240
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditory evoked potentials, Prolonge... ORPHA:529799
Mucopolysaccharidosis Type 3
Ataxia, Hepatomegaly, Optic atrophy, Joint stiffness, Loss of ambulation, Hyperactivity, Flexion ... ORPHA:581
African Trypanosomiasis
Narcolepsy, Apathy, Akinesia, Anxiety, Gait disturbance, Difficulty walking, Choreoathetosis, Agg... ORPHA:3385
Mucopolysaccharidosis, Type Iiid
Joint stiffness, Hepatomegaly, Hyperactivity, Splenomegaly, Hearing impairment, Difficulty walkin... OMIM:252940
Trisomy 10P
Flexion contracture of thumb, EEG with focal spikes, Small for gestational age, EEG with burst su... ORPHA:171929
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Hyperactivity, Emotional lability OMIM:620047
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:99826
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia ORPHA:29073
Choreoacanthocytosis
Laryngeal dystonia, Mental deterioration, Falls, Limb dystonia, Emotional lability, Bradyphrenia,... ORPHA:2388
Legius Syndrome
Hyperactivity, Cognitive impairment, Attention deficit hyperactivity disorder, Hypotonia, Dystonia ORPHA:137605
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Flexion contractur... ORPHA:580
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula... ORPHA:411634
Early Infantile Epileptic Encephalopathy
EEG abnormality, Hyperactivity, Self-injurious behavior, Infantile muscular hypotonia, EEG with s... ORPHA:1934
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hepatomegaly, Hepatospleno... ORPHA:79330
Wiedemann-Steiner Syndrome
Hyperactivity, Anxiety, Psychomotor deterioration, Aggressive behavior, Hypotonia, Low frustratio... ORPHA:319182
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperphosphatemia, Anemia, Thrombocy... ORPHA:340
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Multiple joint contractures, Protruding ear, Hyperactivity, Irritability, Hypsarrhythmia, Low-set... ORPHA:447997
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
X-Linked Non-Syndromic Intellectual Disability
Small for gestational age, Moderate sensorineural hearing impairment, Attention deficit hyperacti... ORPHA:777
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Hereditary Sensory And Autonomic Neuropathy Type 4
Osteomyelitis, Hyperactivity, Self-mutilation, Orthostatic hypotension due to autonomic dysfuncti... ORPHA:642
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder, Low-set ears, Polyspl... OMIM:614294
Yellow Fever
Neutrophilia, Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentratio... ORPHA:99829
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Protruding ear, Ataxia, Hyperactivity, Dysmetria, Gait ataxia, Short ear, Aggre... OMIM:614756
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Elevated circulating C-reactive prot... ORPHA:449395
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Aminoaciduria, Normocytic anemia, Elevated... ORPHA:91500
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Small for gestational age ORPHA:424
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity ORPHA:99819
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Splenomegaly, Conjugated hyperb... OMIM:619534

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 Ptchd1

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 Ptchd1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Cellular Functions of the Autism Risk Factor PTCHD1 in Mice. The Journal of neuroscience : the official journal of the Society for Neuroscience (November 2017) Ptchd1tm1a(KOMP)IcsOrl Ptchd1tm1d(KOMP)IcsOrl 29118110

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MGI Allele Allele Type Produced
Ptchd1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ptchd1tm1a(KOMP)IcsOrl KO first allele (reporter-tagged insertion with conditional potential) Mice
Ptchd1tm94175(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ptchd1tm1b(KOMP)IcsOrl Reporter-tagged deletion allele (with selection cassette) Mice
Ptchd1tm94175(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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