Gene Summary

Name:
proprotein convertase subtilisin/kexin type 1 inhibitor
Synonyms:
Pan3,  basic protein IA-4,  proSAAS

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
abnormal eye morphology Pcsk1ntm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal lung morphology Pcsk1ntm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal duodenum morphology Pcsk1ntm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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 Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Pcsk1n 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 Pcsk1n by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Self-mutilation, Truncal ataxia, Unsteady gait OMIM:614063
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Parkinson Disease 17
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor OMIM:614203
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior OMIM:617270
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity, Irritability OMIM:617393
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Irritabi... OMIM:606438
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Inability to walk OMIM:606053
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavior, Rigidity, Chorea, T... ORPHA:401901
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Hand tremor, Depression, Truncal ataxia, Gait disturbance, Tremor, Difficu... ORPHA:98764
Perry Syndrome
Akinesia, Apathy, Bradykinesia, Depression, Anxiety, Parkinsonism, Inappropriate behavior, Rigidi... OMIM:168605
Manganese Poisoning
Hypertonia, Akinesia, Bradykinesia, Impairment in personality functioning, Depression, Gait distu... ORPHA:306682
Corticobasal Syndrome
Akinesia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia... ORPHA:454887
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Falls, Chorea, Aggressive behavior, Inappropriate la... OMIM:619150
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Inappropriate behavior, Gait disturbanc... ORPHA:275864
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... OMIM:128235
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordination OMIM:603218
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... ORPHA:391411
Pick Disease Of Brain
Motor stereotypy, Apathy, Emotional blunting, Disinhibition, Inappropriate laughter, Diminished m... OMIM:172700
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics OMIM:615483
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Blepharospasm, Falls, Spastic dys... ORPHA:240094
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Pers... ORPHA:36899
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Inappropriate behavior, Gait distur... OMIM:600795
Dystonia 11, Myoclonic
Torticollis, Agoraphobia, Depression, Myoclonus, Anxiety, Tremor OMIM:159900
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Depression, Myoclonus, Anxiety, Difficulty walking OMIM:619191
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait, Bradykinesia, Clumsiness, Resting tremor, Parkinsonism, Rigidity, Pos... OMIM:619911
Spinocerebellar Ataxia 21
Akinesia, Ataxia, Progressive cerebellar ataxia, Apathy, Limb ataxia, Impulsivity, Intention trem... OMIM:607454
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age, Anxiety, Gait ataxia, Aggressive ... OMIM:609425
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea OMIM:618760
Smith-Magenis syndrome
Motor stereotypy, Self-mutilation DECIPHER:8
Geniospasm 1
Chin myoclonus, Anxiety OMIM:190100
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Falls, Shuffling gait, Inert... ORPHA:412066
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Self-injurious behavior, Involuntary movements, Spasticity OMIM:617820
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity OMIM:605909
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... OMIM:619725
Kufor-Rakeb Syndrome
Paraparesis, Hypertonia, Akinesia, Ataxia, Bradykinesia, Parkinsonism with favorable response to ... OMIM:606693
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... OMIM:604326
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Depression, Cachexia, Anxiety, Babinski sign, Parkinsonism, Chorea, Tremor, Ga... OMIM:618093
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Separat... ORPHA:66624
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... ORPHA:98773
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Jejunal Atresia
Jejunal atresia OMIM:243600
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk OMIM:617830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Tremor, Aggressive behavior, Spastic tetraparesis OMIM:619470
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Apathy, Babinski sign, Disinhibition, Spasticity, Emotional lability OMIM:612069
Duodenal Atresia
Duodenal atresia OMIM:223400
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior, Obesity,... OMIM:613670
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Impulsivity, Stereotypical body rocking, Poor coordination, Aggressive b... OMIM:309548
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Aggressive behavior OMIM:239500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Resting tremor, Abnormal aggressive, im... ORPHA:3077
Fraxe Intellectual Disability
Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior ORPHA:100973
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Decreased body weight, Motor stereot... OMIM:617695
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Gait ataxia, Emotio... ORPHA:71517
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... OMIM:618218
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... OMIM:619279
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Villous atrophy, Respiratory tract infection, Bronch... OMIM:619445
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Spasticity, Irritability ORPHA:500545
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Huntington Disease
Gait imbalance, Inability to walk, Babinski sign, Chorea, Difficulty walking, Weight loss, Depres... ORPHA:399
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic movements, Inappropriate crying ORPHA:397933
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Parkinsonism with favorable response to dopaminergic medication, Bradyk... ORPHA:240071
Hereditary Late-Onset Parkinson Disease
Akinesia, Apathy, Bradykinesia, Impulsivity, Parkinsonism with favorable response to dopaminergic... ORPHA:411602
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Inappropriate crying, Hand apraxia, Pill-rolling tremor, P... ORPHA:3095
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Obesity, Akinesia, Tongue fasciculations OMIM:618822
Postencephalitic Parkinsonism
Happy demeanor, Akinesia, Bradykinesia, Resting tremor, Depression, Tremor by anatomical site, Ba... ORPHA:97349
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia OMIM:615282
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... OMIM:618917
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Anxiety, Bradykinesia OMIM:618878
Foxg1 Syndrome
Motor stereotypy, Decreased body weight, Inability to walk, Inappropriate crying, Myoclonus, Hype... ORPHA:561854
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Autism
Motor stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Self-injurious behavior, Tremor, Spasticity, Paroxysmal burs... OMIM:618718
Xq28 (MECP2) duplication
Motor stereotypy, Failure to thrive, Inability to walk, Depression, Anxiety, Progressive spastici... DECIPHER:45
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Impulsivity, Poor coordination, Gait ataxia, Irritability OMIM:619717
Duodenal Atresia
Duodenal atresia, Abnormality of the pulmonary artery ORPHA:1203
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Anxiety, Spastic ataxia OMIM:618906
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait disturbance,... ORPHA:457240
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Happy demeanor, Ataxia, Small for gestational age, Stereotypical hand wringing,... OMIM:614104
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... ORPHA:280763
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... ORPHA:99
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
Diarrhea 9
Villous atrophy OMIM:618168
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism, Spasticity OMIM:616840
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Akinesia, Ataxia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... ORPHA:247234
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Cdkl5-Deficiency Disorder
Gait disturbance, Inappropriate laughter, Difficulty walking, Stereotypical hand wringing ORPHA:505652
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Obesity OMIM:613886
Martinez-Frias Syndrome
Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Intestinal hypoplasia, Jejun... OMIM:601346
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Enterocolitis, Intestinal atresia, Intestinal malrotation, Ileal atresia, Hemat... OMIM:243150
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Impulsivity, Depression, Chorea, Spasticity ORPHA:88616
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... ORPHA:103907
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Aggressive behavior, Unsteady gait, Self-mutilation OMIM:615516
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Impulsivity, Recurrent hand flapping... OMIM:619580
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Christianson Syndrome
Conspicuously happy disposition, Motor stereotypy, Cachexia, Truncal ataxia, Gait ataxia, Inappro... ORPHA:85278
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... ORPHA:263665
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... OMIM:619317
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Motor stereotypy, Recurrent hand flapping, Cerebral palsy, Anxiety, Myoclonus, Chorea OMIM:617600
Aceruloplasminemia
Torticollis, Akinesia, Ataxia, Apathy, Blepharospasm, Limb ataxia, Parkinsonism, Rigidity, Chorea... ORPHA:48818
Neurodegeneration With Brain Iron Accumulation 1
Akinesia, Ataxia, Bradykinesia, Blepharospasm, Depression, Babinski sign, Abnormal pyramidal sign... OMIM:234200
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Self-injurious behavior OMIM:619690
Supranuclear Palsy, Progressive, 2
Gait imbalance, Akinesia, Apathy, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Falls, Eyeli... OMIM:609454
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Depression, Anxie... ORPHA:79264
Congenital Short Bowel Syndrome
Intestinal atresia, Steatorrhea, Intestinal malrotation, Abnormal peristalsis, Decreased intestin... OMIM:615237
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Failure to thrive, Ataxia, Anxiety, Paraplegia, Emotional lability, Lethargy ORPHA:927
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Recurrent respiratory infections OMIM:619063
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Snijders Blok-Campeau Syndrome
Broad-based gait, Speech apraxia, Motor stereotypy, Unsteady gait OMIM:618205
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... ORPHA:3198
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Recurrent hand flapping, Spasticity OMIM:618859
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia ORPHA:3405
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Conspicuously happy disposition, Failure to thrive, Ataxia, Hypertonia, Self-injurious behavior, ... OMIM:300986
Rett Syndrome
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... ORPHA:778
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Anxiety, Motor stereotypy ORPHA:168782
Intellectual Developmental Disorder With Autism And Macrocephaly
Anxiety, Overweight, Recurrent hand flapping, Clumsiness OMIM:615032
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Broad-based gait, Ataxia, Happy demeanor, Recurrent hand flapping, Tongue thrusti... ORPHA:411511
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Vill... ORPHA:95427
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Decreased body weight, Inability to walk, Depression, Anxiety, Rigidity... OMIM:300260
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Aggressive behavior OMIM:615541
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Mitchell-Riley Syndrome
Malabsorption, Duodenal atresia, Intestinal malrotation, Anteriorly placed anus, Jejunal atresia OMIM:615710
Myopathy, Congenital, Compton-North
Akinesia, Small for gestational age OMIM:612540
Supranuclear Palsy, Progressive, 1
Gait imbalance, Akinesia, Apathy, Bradykinesia, Retrocollis, Parkinsonism, Rigidity, Falls, Eyeli... OMIM:601104
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Happy demeanor, Difficulty walking, Gait ataxia, Spasticity, Unsteady gait OMIM:617807
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Small for gestational age, Cerebral palsy, Spasticity, Repetitive c... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Anxiety, Self-injurious behavior OMIM:615637
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia OMIM:613502
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy, Recurrent respiratory infections OMIM:614162
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Failure to thrive, Akinesia, Hypertonia, Small for gestational age, Spastic tetraplegia OMIM:619147
Alpha-Heavy Chain Disease
Malabsorption, Abnormality of the small intestine ORPHA:100025
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Ataxia, Inability to walk, Cortical myoclonus, Myoclonus, Anxiety, Gait disturb... ORPHA:168491
Vascular Hyalinosis
Malabsorption, Protein-losing enteropathy, Hematochezia OMIM:277175
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Limb hypertonia, Babinski sign, Myoclon... OMIM:608643
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Aggressive behavior, Spasticity OMIM:610042
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Ataxia, Happy demeanor, Recurrent hand flapping, Myoclonus, Ton... ORPHA:98794
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor ORPHA:544254
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Shukla-Vernon Syndrome
Broad-based gait, Motor stereotypy OMIM:301029
Galloway-Mowat Syndrome 6
Motor stereotypy, Decreased body weight, Paroxysmal bursts of laughter OMIM:618347
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Paroxysmal bursts of laughter ORPHA:228402
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... ORPHA:329971
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor, Obesity ORPHA:10
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Tremor, Decreased body weight, Aggressive behavior OMIM:618342
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... ORPHA:141127
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Depression, Anxiety, Suicidal ideation, Involuntary movements ORPHA:98784
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Congenital Contractural Arachnodactyly
High palate, Tracheoesophageal fistula, Duodenal atresia, Intestinal malrotation ORPHA:115
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk OMIM:619877
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Self-mutilation, Cerebral palsy, Stereotypical hand wringing, Low frustration tolerance, ... ORPHA:163681
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Aggressive behavior, Scissor gait, Sp... OMIM:619121
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Parkinsonism, Hypersexuality, Disinhibition, Repetitive compulsive behavior, Apraxia OMIM:607485
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Myoclonus, Inability to walk ORPHA:411986
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Self-injurious behavior OMIM:617044
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Failure to thrive, Hypertonia, Motor stereotypy, Gait disturbance, Speech aprax... OMIM:300352
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Hypertonia, Motor stereotypy, Self-mutilation, Small for gestati... OMIM:123450
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Anxiety, Self-injurious behavior, Aggressive behavior ORPHA:313892
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Duodenal polyposis, Adenocarcinoma of ... ORPHA:220460
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia ORPHA:3004
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing, Small for gestational age ORPHA:289266
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Tics, Aggressive behavior, Recurrent hand flapping OMIM:617788
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Anxiety, Oromotor apraxia, Spasticity, Repetitive compulsive behavior, Overweight ORPHA:391372
Distal Xq28 Microduplication Syndrome
Impulsivity, Tip-toe gait, Stereotypical body rocking, Depression, Anxiety, Self-biting, Aggressi... ORPHA:293939
Esophageal Atresia
Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... ORPHA:1199
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping OMIM:617268
Rett Syndrome
Gait apraxia, Cachexia, Truncal ataxia, Stereotypical hand wringing, Gait ataxia, Spasticity OMIM:312750
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Failure to thrive, Ataxia, Recurrent hand flapping, Stereotypical body rocking,... OMIM:300912
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Steatorrhea ORPHA:3217
Rett Syndrome, Congenital Variant
Motor stereotypy, Inappropriate crying, Chorea, Tongue thrusting, Athetosis, Spasticity, Apraxia,... OMIM:613454
Fanconi Anemia, Complementation Group B
Tracheoesophageal fistula, Duodenal atresia, Esophageal atresia, Abnormal lung lobation OMIM:300514
Alazami Syndrome
Motor stereotypy, Anxiety, Stereotypical hand wringing, Self-mutilation ORPHA:319671
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Anxiety, Self-injurious behavior ORPHA:397612
Coffin-Siris Syndrome 6
Motor stereotypy, Anxiety, Tics OMIM:617808
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Self-injurious behavior, Recurrent hand flapping, Depression, Anxiety, Aggressi... ORPHA:449291
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal... OMIM:300048
Childhood Absence Epilepsy
Depression, Anxiety, Low self esteem, Limb myoclonus, Punding ORPHA:64280
Fryns Syndrome
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Cleft palate,... ORPHA:2059
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Impulsivity, Self-injurious behavior, Cerebral palsy, Aggressive be... OMIM:618914
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Eosinophilic Gastroenteritis
Malabsorption, Steatorrhea, Abnormality of the gastrointestinal tract, Hematochezia, Protein-losi... ORPHA:2070
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity, Stereotypical hand wringing, Hypertonia OMIM:619854
Gaucher Disease, Perinatal Lethal
Akinesia, Decreased body weight, Apathy, Opisthotonus OMIM:608013
Bilateral Generalized Polymicrogyria
Motor stereotypy, Self-injurious behavior, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia... ORPHA:208447
Scedosporiosis
Abnormal jejunum morphology, Pleural empyema, Pleuritis, Bronchitis, Pneumonia, Pulmonary fibrosis ORPHA:449280
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Impulsivity, Chorea, Athetosis, Aggressive behavior OMIM:619435
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Smith-Magenis Syndrome
Motor stereotypy, Increased body weight, Head-banging, Self-mutilation OMIM:182290
Intellectual Developmental Disorder, Autosomal Recessive 13
Recurrent hand flapping, Truncal obesity OMIM:613192
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Tongue thrusting, Inappropriate crying ORPHA:77299
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Duodenal ulcer, Esophageal ulceration OMIM:618372
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Self-injurious behavior, Recurrent h... ORPHA:72
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance OMIM:300486
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Recurrent hand flapping, Tremor, Speech apraxia, Aggressive behavior... OMIM:619680
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor, Self-injurious behavior ORPHA:238750
Cystinosis
Gait disturbance, Failure to thrive, Abnormal pyramidal sign, Motor stereotypy ORPHA:213
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Radio-Tartaglia Syndrome
Gait imbalance, Motor stereotypy, Ataxia, Impulsivity, Tremor, Aggressive behavior, Obesity OMIM:619312
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Small for gestational age, Anxiety, Overweight, Irritability OMIM:617796
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Aggressive behavior OMIM:618825
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Motor stereotypy OMIM:616351
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Aggressive behavior, Irritability ORPHA:391307
Fanconi Anemia, Complementation Group W
Duodenal atresia OMIM:617784
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Duodenal atresia, Esophageal atresia, Submucous cleft hard palate OMIM:619227
Dpagt1-Cdg
Failure to thrive, Akinesia, Ataxia, Inability to walk, Head-banging, Hypertonia, Stereotypical b... ORPHA:86309
Smith-Magenis Syndrome
Motor stereotypy, Self-injurious behavior, Anxiety, Gait disturbance, Obesity, Failure to thrive ... ORPHA:819
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Morphological abnormality of the gastrointestinal tract, Intestinal malr... ORPHA:2847
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Aggressive behavior, Self-biting ORPHA:3306
Potocki-Lupski Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age OMIM:610883
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Self-injurious behavior, Chorea, Spasticity, Eyelid myoclonus ORPHA:178469
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Pulmonary lymphangiectasia,... OMIM:265380
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Decreased body weight, Inability to walk, Upper limb spasticity, Myoclo... OMIM:619229
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Fragile X Syndrome
Recurrent hand flapping, Self-biting OMIM:300624
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping OMIM:620021
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Failure to thrive, Speech apraxia, Choreoathetosis, Obesity, Paroxysmal dyskinesia ORPHA:261197
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Head tremor OMIM:619428
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Failure to thrive, Self-mutilation, Tremor, Gait ataxia, Aggressive behavior ORPHA:476126
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Failure to thrive, Hypertonia, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:212066
White-Sutton Syndrome
Motor stereotypy, Failure to thrive, Self-injurious behavior, Anxiety, Tics, Aggressive behavior,... OMIM:616364
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Gastrointestinal ... OMIM:175500
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Mungan Syndrome
Megaduodenum, Intestinal pseudo-obstruction, Hypoperistalsis, Barrett esophagus OMIM:611376
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, Self-mutilation, Hyperkinetic movements, Chorea, Self-biting, Hemiballi... ORPHA:522077
Feingold Syndrome
Duodenal atresia, Esophageal atresia ORPHA:1305
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Scleroderma
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:801
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Failure to thrive, Hypertonia, Babinski sign, Spasticity, Inappropriate laughter OMIM:615802
Autism, Susceptibility To, 3
Motor stereotypy OMIM:608049
African Trypanosomiasis
Akinesia, Apathy, Anxiety, Fasciculations, Hemiparesis, Gait disturbance, Tremor, Difficulty walk... ORPHA:3385
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... ORPHA:90291
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Small for gestational age OMIM:613174
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Inability to walk OMIM:617802
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Broad-based gait, Tongue thrusting ORPHA:98795
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Alg6-Cdg
Protein-losing enteropathy, Macroglossia ORPHA:79320
D-Glyceric Aciduria
Failure to thrive, Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia OMIM:220120
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Inability to walk, Spastic diplegia, Spastic tetraplegia, Spastici... ORPHA:300570
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Duodenal atresia, Gastrointestinal dysmotility OMIM:617798
Rauch-Steindl Syndrome
Motor stereotypy, Failure to thrive, Anxiety, Aggressive behavior OMIM:619695
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Recurrent upper respiratory tract infections, Recurrent lower respiratory... OMIM:209920
Serkal Syndrome
Malrotation of small bowel, Pulmonary hypoplasia ORPHA:139466
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Stromme Syndrome
Jejunal atresia, Duodenal atresia, Intestinal malrotation, Cleft palate OMIM:243605
Plasminogen Deficiency, Type I
Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:217090
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance ORPHA:457279
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Incoordination, Gait ataxia OMIM:616579
Refractory Celiac Disease
Villous atrophy, Malabsorption, Protein-losing enteropathy, Jejunitis ORPHA:398063
Mosaic Variegated Aneuploidy Syndrome 2
Duodenal atresia, Abnormal lung lobation OMIM:614114
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Pulmonary fibrosis, Recurrent respiratory infections OMIM:619510
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Tremor, Self-injurious behavior, Aggressive behavior OMIM:617061
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ataxia, Isometric tremor, Falls, Tics, Spasticity, Emotional lability, Broad-based gait, Hyperton... OMIM:619475
Kleefstra Syndrome 1
Motor stereotypy, Obesity, Apathy, Aggressive behavior OMIM:610253
Feingold Syndrome Type 1
Anal atresia, Duodenal atresia, Gastrointestinal atresia, Jejunal atresia, Esophageal atresia ORPHA:391641
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Inability to walk, Self-injurious behavior, Limb hypertonia, Spasticity ORPHA:457351
Blepharophimosis-Impaired Intellectual Development Syndrome
Motor stereotypy, Low frustration tolerance OMIM:619293
Bainbridge-Ropers Syndrome
Motor stereotypy, Failure to thrive, Hypertonia, Inability to walk, Self-injurious behavior, Recu... OMIM:615485
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Fanconi Anemia, Complementation Group F
Duodenal atresia, Pneumonia OMIM:603467
Arthrogryposis Multiplex Congenita 5
Hypertonia, Akinesia, Hand tremor OMIM:618947
22Q11.2 Duplication Syndrome
Motor stereotypy, Anxiety ORPHA:1727
Leber Congenital Amaurosis 8
Eye poking OMIM:613835
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Cleft palate, Stomach cancer, Abnormal lung lobation, Intestinal polyposis, Col... ORPHA:1052
Dextrocardia
Intestinal malrotation, Abnormal lung lobation, Abnormality of the pulmonary artery, Abnormal pul... ORPHA:1666
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Aplasia/Hypoplasia of the lungs, Gastroesophageal reflu... ORPHA:2092
Netherton Syndrome
Villous atrophy, Intestinal atresia, Abnormal intestine morphology OMIM:256500
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy OMIM:618504
Microform Holoprosencephaly
Duodenal atresia, Cleft palate ORPHA:280200
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Fryns Syndrome
Anal atresia, Duodenal atresia, Chylothorax, Cleft palate, Intestinal malrotation, Pulmonary hypo... OMIM:229850
Phelan-Mcdermid Syndrome
Broad-based gait, Motor stereotypy, Tongue thrusting, Aggressive behavior, Unsteady gait OMIM:606232
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Depression, Myoclonus, Anxiety, Rigidity, Chorea, Choreoathetosis... ORPHA:217253
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia ORPHA:496641
Whim Syndrome
Recurrent upper respiratory tract infections, Abnormality of the small intestine, Recurrent pneum... ORPHA:51636
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus, Inability to walk OMIM:300672
Feingold Syndrome 1
High palate, Tracheoesophageal fistula, Duodenal atresia, Esophageal atresia OMIM:164280
Cat Eye Syndrome
Anal atresia, Rectal fistula, Cleft palate, Intestinal malrotation, Volvulus, Total anomalous pul... OMIM:115470
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia, Duodenal atresia, Cleft palate OMIM:247200
Bainbridge-Ropers Syndrome
Hypertonia, Inability to walk, Recurrent hand flapping ORPHA:352577
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy OMIM:617751
Hydroxykynureninuria
Motor stereotypy, Hypertonia ORPHA:79155
Harrod Syndrome
High palate, High, narrow palate, Malrotation of small bowel, Pyloric stenosis, Aganglionic megac... OMIM:601095
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Jacobsen Syndrome
Ectopic anus, Duodenal atresia, Intestinal malrotation, Pyloric stenosis, Abnormality of the anus... ORPHA:2308
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Self-injurious behavior, Recurrent hand flapping, Anxiety, Aggressive behavior, Inappropr... OMIM:156200
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia ORPHA:435638
Coffin-Siris Syndrome 7
Motor stereotypy OMIM:618027
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Atrophic gastritis, Inflammation of the large intestine, Recurrent sinusitis, Villous at... OMIM:614700
Primary Intestinal Lymphangiectasia
Pleural effusion, Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, ... ORPHA:90362
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Obesity OMIM:615873
Menke-Hennekam Syndrome 2
Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:618333
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Hair-pulling, Myoclonic spasms, Clonus, Lower limb spasticity, Irri... ORPHA:447997
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia ORPHA:2479
Zollinger-Ellison Syndrome
Duodenal ulcer, Hematochezia, Intestinal obstruction, Peptic ulcer, Esophagitis, Gastrointestinal... ORPHA:913
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Spasticity, Cataplexy OMIM:607625
Dilated Cardiomyopathy With Ataxia
Action tremor, Ataxia, Lower limb spasticity, Repetitive compulsive behavior ORPHA:66634
Pitt-Hopkins Syndrome
Motor stereotypy, Incoordination, Gait ataxia, Self-injurious behavior OMIM:610954
Kleefstra Syndrome
Motor stereotypy, Self-injurious behavior, Self-mutilation, Aggressive behavior, Obesity ORPHA:261494
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Head-banging OMIM:619103
7Q11.23 Microduplication Syndrome
Motor stereotypy, Self-injurious behavior, Dysmetria, Anxiety, Aggressive behavior, Unsteady gait... ORPHA:96121
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Stereotypical body rocking, Inappropriate crying, Tongue thrusting, Fail... ORPHA:261323
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption OMIM:214950
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy OMIM:608104
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Failure to thrive, Stereotypical hand wringing OMIM:619179
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Motor stereotypy, Failure to thrive, Head-banging, Self-injurious behavior, Overweight OMIM:619575
Leber Congenital Amaurosis 9
Eye poking OMIM:608553
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Failure to thrive, Small for gestational age, Anxiety, Gait disturbance ORPHA:464311
Apc-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Multiple gastric polyps, Duodenal adenocarcinoma, Desmoid tumors, ... ORPHA:247806
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Juvenile Polyposis Syndrome
Small intestinal polyposis, Intussusception, Stomach cancer, Intestinal polyp, Neoplasm of the sm... ORPHA:2929
Wiedemann-Steiner Syndrome
Motor stereotypy, Failure to thrive, Anxiety, Aggressive behavior, Low frustration tolerance ORPHA:319182
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Failure to thrive, Hemiparesis, Tongue thrusting, Aggressive behavior, Obesity ORPHA:369950
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Fat malabsorption OMIM:601847
White-Sutton Syndrome
Motor stereotypy, Self-injurious behavior, Incoordination, Aggressive behavior, Obesity ORPHA:468678
Gardner Syndrome
Adenomatous colonic polyposis, Multiple gastric polyps, Hepatoblastoma, Ampulla of Vater carcinom... ORPHA:79665
Transketolase Deficiency
Motor stereotypy, Self-injurious behavior ORPHA:488618
Distal Monosomy 12Q
Duodenal atresia, High, narrow palate, Pyloric stenosis, Microglossia, Esophageal atresia ORPHA:96149
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Duodenal atresia, Gastroesophageal reflux ORPHA:464306
Pyruvate Carboxylase Deficiency
Failure to thrive, Ataxia, Apathy, Recurrent hand flapping, Tip-toe gait, Abnormal pyramidal sign... ORPHA:3008
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Pleural effusion, Intestinal lymphang... OMIM:235510
Foxg1 Syndrome Due To 14Q12 Microdeletion
Motor stereotypy ORPHA:261144
Optic Atrophy-Intellectual Disability Syndrome
Spasticity, Repetitive compulsive behavior ORPHA:401777
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Colitis, Gastritis, Anoperineal fistula, Duodenal ulcer, Bronchitis, Villous atr... OMIM:619381
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Pulmonary lymphangiectasia, Protein-losing enteropathy, Cleft palate OMIM:235255
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Hypoplastic colon, Pulmonary hypoplasia, Hypoplasia of the small intes... OMIM:200995
2Q37 Microdeletion Syndrome
Motor stereotypy, Obesity ORPHA:1001
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Furrowed tongue, Gastroesophageal reflux, Duodenal atresia OMIM:616975
Holoprosencephaly 13, X-Linked
Duodenal atresia, Gastroesophageal reflux, Median cleft palate, Cleft palate, Submucous cleft har... OMIM:301043
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Steatorrhea OMIM:607765
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Multiple gastric polyps, Hepatoblastoma, Duodenal adenocarcinoma, ... OMIM:175100
Heterotaxy, Visceral, 5, Autosomal
Duodenal atresia, Intestinal malrotation, Pulmonary artery atresia, Partial anomalous pulmonary v... OMIM:270100
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Decreased body weight, Self-mutilation OMIM:619005
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Self-injurious behavior, Severe failure to thrive, Abnormal pyramid... ORPHA:468631
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Happy demeanor, Head-banging, Anxiety, Obesity, Skin-picking ORPHA:177907
Visceral Myopathy 1
Dysphagia, Megaduodenum, Intestinal pseudo-obstruction, Microcolon, Aganglionic megacolon OMIM:155310
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Failure to thrive, Motor stereotypy, Stereotypical body rocking, Gait ataxia, R... ORPHA:513456
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia OMIM:619777
Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Cholangiocarcinoma, Multiple gastric polyps, Hepatoblastoma, Stoma... ORPHA:733
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Motor stereotypy, Ataxia, Dysmetria, Truncal ataxia, Speech apraxia, Gait ataxia OMIM:617330
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Pleural effusion, Hematochezia OMIM:618183
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Ataxia, Poor gross motor coordination, Dysmetria, Hand tremor... OMIM:614756
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Opisthotonus ORPHA:508533
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Small bowel diverticula, Pyloric stenosis, Recurrent pneumo... ORPHA:90349
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Motor stereotypy, Failure to thrive, Anxiety, Self-injurious behavior OMIM:619512
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Anal atresia, Duodenal atresia, Total anomalous pulmonary venous return OMIM:306955
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Failure to thrive, Ataxia, Impulsivity, Tip-toe gait, Self-mutilation, Spastic diplegia, Limb hyp... OMIM:619950
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
High palate, Adenomatous colonic polyposis, Intestinal bleeding, Hepatoblastoma, Desmoid tumors, ... ORPHA:261584
Iniencephaly
Anal atresia, Duodenal atresia ORPHA:63259
Oculoskeletodental Syndrome
Protein-losing enteropathy, Macroglossia OMIM:618440
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy, Unsteady gait OMIM:616682
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Pulmonary lymphangiectasia, Protein-losing enteropathy ORPHA:1655
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Failure to thrive, Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsi... ORPHA:353281
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, Obesity, Aggressive behavior OMIM:301066
Kinsship Syndrome
Spastic tetraparesis, Failure to thrive, Myoclonus, Motor stereotypy OMIM:619297
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Hypertonia, Ataxia, Small for gestational age, Anxiety, Stereotypical hand wrin... ORPHA:268261
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Motor stereotypy, Obesity, Difficulty walking OMIM:618653
Diets-Jongmans Syndrome
Duodenal atresia OMIM:618846
Townes-Brocks Syndrome 1
Anal atresia, Duodenal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Rectoperineal... OMIM:107480
Tarp Syndrome
Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Pulmonary hypoplasia ORPHA:2886
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal stomach morphology, Abnormal duodenum morphology, Intussusc... ORPHA:512
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Pulmonary hypoplasia, Recurrent pneumonia, Esophageal varix, ... ORPHA:731
Cardiofaciocutaneous Syndrome 1
Failure to thrive, Oculomotor apraxia, Tongue thrusting, Hypertonia OMIM:115150
Intellectual Developmental Disorder, Autosomal Dominant 22
Stereotypical hand wringing OMIM:612337
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Pulmonary hypoplasia, Anteriorly placed anus, Abnormal... ORPHA:1708
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Unilateral vocal cord paralysis, Impulsivity, Spasticity OMIM:301030
Hypoplasminogenemia
Duodenal ulcer ORPHA:722
Coffin-Siris Syndrome 1
High palate, Cleft palate, Intussusception, Intestinal malrotation, Duodenal ulcer, Gastric ulcer... OMIM:135900
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Motor stereotypy, Spasticity OMIM:301040
Charge Syndrome
Anal atresia, Duodenal atresia, Cleft palate, Tracheoesophageal fistula, Pulmonary artery atresia... OMIM:214800
Multiple Endocrine Neoplasia Type 1
Melena, Gastroesophageal reflux, Hematemesis, Intestinal carcinoid, Duodenal ulcer, Peptic ulcer,... ORPHA:652
Storm Syndrome
Fat malabsorption OMIM:185069
Mgat2-Cdg
Failure to thrive, Stereotypical hand wringing ORPHA:79329
Norrie Disease
Motor stereotypy, Failure to thrive, Hypertonia, Self-injurious behavior, Cachexia, Anxiety, Clon... ORPHA:649
1P36 Deletion Syndrome
Motor stereotypy, Failure to thrive, Self-injurious behavior, Hemiplegia/hemiparesis, Gait distur... ORPHA:1606
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Failure to thrive, Self-injurious behavior, Depression, Anxiety, Clonus ORPHA:534
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Hiatus hernia, Cleft palate, Intestinal malrotation, Abnormal duodenum morphology, P... OMIM:601776
Tuberous Sclerosis Complex
Impulsivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior, Repetitive compul... ORPHA:805
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Motor stereotypy, Failure to thrive, Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Motor stereotypy, Failure to thrive, Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsi... ORPHA:353277
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Spastic diplegia, Poor coordination, Small for gestational age OMIM:309590
Fraser Syndrome 1
Abnormality of the small intestine, Pulmonary hypoplasia, Cleft palate, Abnormality of the anus OMIM:219000
Arboleda-Tham Syndrome
Gait imbalance, Motor stereotypy, Lower limb hypertonia OMIM:616268
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Failure to thrive, Aggressive behavior OMIM:309000
Ogden Syndrome
Torticollis, Hypertonia, Motor stereotypy, Irritability OMIM:300855
Mucopolysaccharidosis Type 2
Motor stereotypy, Impulsivity, Aggressive behavior ORPHA:580
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy ORPHA:508498
Primrose Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Anxiety, Truncal obesity, Tics, Aggressive beh... OMIM:259050
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Hypertonia, Motor stereotypy OMIM:301044
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Inability to walk, Exaggerated startle response, Myoclonus, Stereotypical hand ... ORPHA:438213
Coffin-Siris Syndrome 12
Motor stereotypy, Failure to thrive OMIM:619325
Wolf-Hirschhorn Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age OMIM:194190
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Failure to thrive, Impulsivity, Tip-toe gait, Stereotypical body rocking, Falls... OMIM:619503
Mowat-Wilson Syndrome
Broad-based gait, Happy demeanor, Ataxia, Decreased body weight, Inability to walk, Motor stereot... ORPHA:2152
Liver Disease, Severe Congenital
Chronic gastritis, Protein-losing enteropathy, Pulmonary edema, Pneumonia OMIM:619991
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Failure to thrive, Happy demeanor, Inability to walk, Motor stereotypy, Poor fi... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Failure to thrive, Happy demeanor, Inability to walk, Motor stereotypy, Poor fi... ORPHA:261552
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Exaggerated startle response OMIM:619522

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 Pcsk1n

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 Pcsk1n.

No publications found that use IMPC mice or data for Pcsk1n.

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MGI Allele Allele Type Produced
Pcsk1ntm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Pcsk1ntm221344(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pcsk1ntm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pcsk1ntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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