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Gene: Ptbp2 MGI:1860489

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Gene Summary

Name:
polypyrimidine tract binding protein 2
Synonyms:
brPTB

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vibrissa morphology Ptbp2em1(IMPC)Hmgu HET Early adult 2.45×10-05
abnormal tooth morphology Ptbp2em1(IMPC)Hmgu HET Early adult 2.74×10-05
decreased total retina thickness Ptbp2em1(IMPC)Hmgu HET   Early adult 1.57×10-06
preweaning lethality, complete penetrance Ptbp2em1(IMPC)Hmgu HOM   Early adult 7.54×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Ptbp2 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 Ptbp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia OMIM:613869
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Hypertonia, Glob... OMIM:611722
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis ORPHA:132
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Pontocerebellar Hypoplasia, Type 1C
Spastic tetraparesis, Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Deat... OMIM:616081
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Respiratory insufficiency ORPHA:640
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia ORPHA:79129
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Apnea, Rigidity, Cere... OMIM:610127
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Parkinsonism, Cerebral atrophy, Paralysis OMIM:105500
Spinal Muscular Atrophy, Type I
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood OMIM:253300
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Respiratory failure, Ataxia, Cerebral atrophy OMIM:618637
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Respiratory failure, Fasciculations OMIM:613435
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... ORPHA:101112
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Ex... ORPHA:71277
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern... OMIM:619787
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Rigidity, Cerebral atrophy, Respiratory failure, Myoclonus, Aspira... OMIM:619057
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Abnormal dental morpholog... ORPHA:1897
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Respiratory failure, Brain atrophy, Atrophy/Degeneration affecting the b... OMIM:616277
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Caudate atrophy, Respiratory insufficiency, Hippocampal atrophy, T... OMIM:617892
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Limb fasciculations, Respira... ORPHA:90117
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Hypertonia, Myoclonus, Spasticity OMIM:225753
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Paralysis OMIM:300857
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Ankle clonus, Hemiparesis, Respiratory failure, Tongue fasciculations, Tetraparesis OMIM:600561
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Dyspnea, Abnormal respiratory sys... ORPHA:803
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy OMIM:610951
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Horner Syndrome, Congenital
Paralysis OMIM:143000
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Heimler Syndrome 1
Retinal pigment epithelial mottling, Leukonychia, Beau's lines, Macular dystrophy, Enamel hypopla... OMIM:234580
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Paralysis OMIM:616286
Hyperekplexia 4
Respiratory failure, Hypertonia, Myoclonus, Cerebral atrophy OMIM:618011
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Lower limb spasticity, Amyotrophic lateral sclerosis, Babinski sign, Ankle clonus, Respiratory fa... OMIM:613954
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... ORPHA:230800
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Diaphragmatic paralysis, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... ORPHA:2222
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, D... OMIM:616108
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Neuronal loss in central nervous system, Paraplegia ORPHA:71211
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Tremor, Respiratory insufficiency due to muscle weakness, Eyelid myoclonus, Clumsiness, Respirato... ORPHA:2590
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Lethal Congenital Contracture Syndrome 8
Neonatal death, Death in infancy, Vocal cord paralysis OMIM:616287
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Cerebral atr... OMIM:617672
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Central apnea, Incoordination, Ataxia, Tremor, Paraparesis, B... OMIM:615157
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity OMIM:615889
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... OMIM:612319
Pontocerebellar Hypoplasia Type 1
Ataxia, Congenital laryngeal stridor, Degeneration of anterior horn cells, Respiratory failure, T... ORPHA:2254
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, Hypodontia, Enamel hypoplasia OMIM:226650
Jalili Syndrome
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... ORPHA:1873
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Myasthenic Syndrome, Congenital, 16
Apnea, Periodic paralysis OMIM:614198
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure, Hypertonia, Myoclonus OMIM:618240
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Chorea, Slurred speech, Dysmetria, Bradykinesia, Progressive... ORPHA:98755
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death, Cerebral a... OMIM:611890
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Tachypnea, Cerebral atrophy, Dea... OMIM:615838
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia OMIM:257100
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Axonal degeneration, Tachypnea, Diaphragmatic paralysis, Degeneration of anterior horn cells, Res... OMIM:604320
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Brain atrophy OMIM:620326
Variegate Porphyria
Paralysis OMIM:176200
Adult Intestinal Botulism
Respiratory insufficiency due to muscle weakness, Dyspnea, Cerebral palsy, Diaphragmatic paralysis ORPHA:178487
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Spastic tetraparesis, Respiratory insufficiency, Opisthotonus, Respiratory fail... OMIM:605711
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont... ORPHA:1264
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Triose Phosphate-Isomerase Deficiency
Central nervous system degeneration, Diaphragmatic paralysis ORPHA:868
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetos... OMIM:312170
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Cerebral atrophy, Res... OMIM:245400
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, H... OMIM:616505
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal dental morphology, Premature loss of primary teeth, Abnormal hair morphology, ... ORPHA:248
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis OMIM:605285
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory... OMIM:614299
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Increased cerebral lipofuscin, Cerebral atrophy, Limb hypertonia OMIM:615918
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Respiratory failure, Spasticity ORPHA:168486
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Poor gross motor coordination, Cerebral cortical atrophy, Respiratory insuff... ORPHA:370968
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Neurodegeneration, Spastic paraparesis OMIM:615643
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Respi... OMIM:619847
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair OMIM:601453
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... OMIM:615491
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neurodegenera... OMIM:300894
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Tracheomalacia, Axonal degeneration, Vocal cord paralysis, Respiratory insufficiency OMIM:615490
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetraparesis, Brain atroph... OMIM:617186
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Respiratory failure, Fasciculations, Br... OMIM:620327
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Spasticity, Respiratory failure, Opisthotonus OMIM:610678
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... OMIM:606159
Mitochondrial Complex I Deficiency, Nuclear Type 10
Ataxia, Central hypoventilation, Apnea, Dysmetria, Respiratory failure OMIM:618233
Heimler Syndrome 2
Beau's lines, Dental crowding, Leukonychia, Amelogenesis imperfecta OMIM:616617
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Myoclonus, Death in chi... OMIM:614922
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Babinski sign, Respiratory insufficiency, Respiratory failure, Neonatal death... OMIM:618186
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency, Spastic tetraplegia, Cerebral atrophy OMIM:615330
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Odontomicronychial Dysplasia
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu... ORPHA:1811
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Pneumothorax, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Choreo... ORPHA:445038
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Laryngeal Abductor Paralysis
Stridor, Vocal cord paralysis OMIM:150260
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... ORPHA:3352
Leigh Syndrome
Ataxia, Respiratory insufficiency, Respiratory failure, Spasticity, Abnormal pattern of respiration OMIM:256000
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Vocal ... OMIM:211530
Snakebite Envenomation
Epistaxis, Paralysis, Pseudobulbar paralysis, Respiratory failure, Respiratory paralysis ORPHA:449285
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis OMIM:162500
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Chorea, Respiratory failure, Ataxia, Spasticity ORPHA:70472
Machado-Joseph Disease Type 1
Cerebellar atrophy, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... ORPHA:276241
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... ORPHA:251393
Tibial Muscular Dystrophy
Respiratory failure, Clumsiness ORPHA:609
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Frequent falls, Nocturnal hypoventilation, Respiratory failure OMIM:603689
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Death in infancy, Cerebral palsy, Death in early adulthood, Resp... ORPHA:682
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral atrophy, Neuro... OMIM:256600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Cerebellar atrophy, Restrictive ventilatory defect, Respiratory failure, Frequent falls OMIM:606612
Alg1-Cdg
Cerebellar atrophy, Respiratory failure, Cerebral atrophy ORPHA:79327
Machado-Joseph Disease Type 3
Cerebellar atrophy, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... ORPHA:276244
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Respiratory failure ORPHA:75840
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Vocal cord paresis, Respiratory failure, Intercostal muscle weakness OMIM:606071
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Ataxia ORPHA:1861
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Tremor, Respiratory insufficiency due to muscle weakness,... OMIM:615512
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Respiratory f... OMIM:607625
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... ORPHA:309246
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Respiratory insufficiency OMIM:245650
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis OMIM:620296
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Stridor, Cough ORPHA:142
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly OMIM:614870
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Dia... ORPHA:505395
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Krabbe Disease
Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti... OMIM:245200
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Frequent falls, Ataxia OMIM:620166
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Clonus, Tremor, Cerebral atrophy, Hypopnea, Respiratory failure, Hyperto... OMIM:617248
Inhalational Botulism
Dyspnea, Paralysis ORPHA:254504
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Cerebral atrophy, Dysmetria, Gait ataxia, Bradykinesia... OMIM:610217
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure, Cerebral cortical atrophy ORPHA:1194
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Babinski sign, Vocal cord paralysis, Hand tremor, Poor fine motor coordination, ... ORPHA:99947
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis ORPHA:43
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Pili Torti, Early-Onset
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... OMIM:261900
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Diffuse cerebral atrophy, Spastic tetraplegia, Respiratory failure ORPHA:3240
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Ataxia, Recurrent pneumon... ORPHA:496641
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis OMIM:607706
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Diffuse cerebral atrophy, Spastic diplegia, Opisthot... ORPHA:206436
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... ORPHA:209905
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Death in childhoo... OMIM:220110
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Paraplegia, Restrictive ventilatory defect, Voc... ORPHA:98897
Congenital Myopathy 15
Reduced forced vital capacity, Vocal cord paralysis OMIM:620161
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Alopecia Antibody Deficiency
Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/... ORPHA:1006
Scedosporiosis
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... ORPHA:449280
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Cerebral co... OMIM:618291
Glioblastoma
Paralysis ORPHA:360
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... ORPHA:391428
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Poor fine motor coordination, Restrictive ventilatory defect, Voca... ORPHA:99948
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Cherubism
Jaw swelling, Optic neuropathy, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Nar... OMIM:118400
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Respiratory failure, Ataxia, Titubation ORPHA:280210
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Death in infancy, Death in childhood OMIM:620265
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Japanese Encephalitis
Respiratory distress, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Opisthot... ORPHA:79139
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy OMIM:617184
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... OMIM:300100
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Carious teeth, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse... OMIM:614564
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Stuve-Wiedemann Syndrome 2
Neonatal death, Stillbirth, Death in adolescence OMIM:619751
Poliomyelitis
Respiratory failure requiring assisted ventilation, Paralysis, Paraparesis, Respiratory failure, ... ORPHA:2912
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Recurrent pneumonia, Neurodegeneration, Brain atrop... OMIM:214150
Combined Oxidative Phosphorylation Defect Type 29
Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a... ORPHA:478029
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, Neonatal inspiratory stridor ORPHA:684
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... ORPHA:2396
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... OMIM:129400
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia OMIM:617301
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Death in childhood OMIM:614096
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Hypoventilation, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cere... OMIM:203700
Lelis Syndrome
Mandibular prognathia, Yellow nails, Carious teeth, Absent lower eyelashes, Furrowed tongue, Nail... ORPHA:140936
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Leigh Syndrome
Cerebellar atrophy, Ataxia, Involuntary movements, Chorea, Spastic diplegia, Choreoathetosis, Ath... ORPHA:506
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Stillbirth, Neonatal death, Multinucleated neuron OMIM:236500
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Spasticity, Respiratory failure, Respiratory insufficiency OMIM:618329
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Neurode... OMIM:614298
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Dyspnea, Babi... ORPHA:79138
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Osteopetrosis, Autosomal Recessive 5
Clonus, Spastic tetraplegia, Cerebral atrophy, Respiratory failure, Hypertonia, Stillbirth, Limb ... OMIM:259720
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ... ORPHA:50814
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Cerebral atrophy, Death in childhood OMIM:618252
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Polyminimyoclonus, Stridor, Fasciculations, Vocal cord paresis OMIM:619574
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration OMIM:146500
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Vocal cord paresis, Amyotrophic lateral scleros... ORPHA:600
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Ataxia, Tremor, Dyspnea, Respiratory insufficiency, Respiratory failure, Death ... OMIM:610505
Niemann-Pick Disease Type C
Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Upper motor neuron dysfunction, Ab... ORPHA:646
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Oral leukoplakia OMIM:616353
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Myoclonus,... OMIM:618321
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Death in infancy, Agenesis of corpus callosum OMIM:616342
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Spasticity, Neuronal loss in central nervous system, Neurodegeneration OMIM:616239
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Riddle Syndrome
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Clumsiness, Restrictive ventilatory de... ORPHA:420741
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Tetraplegia, Respiratory insufficiency, Respiratory failure, Myoclonus, Brain atrophy,... OMIM:618278
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abnormal pyramidal sign, C... OMIM:234200
Mitochondrial Trifunctional Protein Deficiency
Frequent falls, Babinski sign, Respiratory insufficiency, Respiratory failure ORPHA:746
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Ichthyosis, Congenital, Autosomal Recessive 4B
Neonatal death, Death in infancy OMIM:242500
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Death in infancy, Ataxia, Apnea, Babinski sign, Respiratory insufficiency, Re... OMIM:252010
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Babinski sign, Hypertonia, Neurodegeneration ORPHA:79244
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Gait ataxia OMIM:614895
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Pontocerebellar atro... ORPHA:258
Cerebral Visual Impairment
Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap... ORPHA:447788
Boutonneuse Fever
Respiratory failure ORPHA:83313
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Spastic di... OMIM:616878
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Spasticity, Vocal cord paralysis, Cerebral cortical atrophy, Myoclonus ORPHA:500144
Rift Valley Fever
Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Bresek Syndrome
Neonatal death, Hydrocephalus ORPHA:85284
Joubert Syndrome 21
Ataxia, Apnea, Dyspnea, Respiratory failure, Oculomotor apraxia, Chronic sinusitis OMIM:615636
Charcot-Marie-Tooth Disease Type 4C
Cerebellar atrophy, Hypoventilation, Respiratory insufficiency, Gait ataxia, Tongue fasciculation... ORPHA:99949
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis ORPHA:397744
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis ORPHA:94080
Charcot-Marie-Tooth Disease Type 4B2
Reduced vital capacity, Tremor, Vocal cord paralysis, Respiratory insufficiency, Poor fine motor ... ORPHA:99956
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Death in infancy, Respiratory failure, Upper limb spasticity, Spasticity, ... OMIM:300868
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Spastic tetraplegia, Neurodegeneration, Spasticity OMIM:618476
Fanconi Anemia, Complementation Group O
Neonatal death, Death in infancy, Miscarriage OMIM:613390
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Frequent falls ORPHA:101097
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Ataxia OMIM:615919
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Listeriosis
Respiratory distress, Ataxia, Pneumonia, Miscarriage, Tremor, Hemiparesis, Respiratory failure, M... ORPHA:533
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasciculations ORPHA:297
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Apnea, Vocal cord paralysis, Hyperkinetic move... OMIM:617799
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Abetalipoproteinemia
Ataxia, Babinski sign, Dysmetria, Gait ataxia, Respiratory failure, Upper motor neuron dysfunction ORPHA:14
Mucopolysaccharidosis, Type Ii
Asthma, Recurrent pneumonia, Neurodegeneration, Tracheobronchomalacia, Airway obstruction OMIM:309900
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
X-Linked Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Vocal cord paralysis ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Vocal cord paralysis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Respiratory insufficiency due to muscle weakness, Vocal cord paralysis ORPHA:98853
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... ORPHA:31204
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As... ORPHA:2020
Gitelman Syndrome
Ataxia, Paralysis OMIM:263800
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Afibrinogenemia, Congenital
Neonatal death, Death in infancy, Death in adolescence, Death in childhood OMIM:202400
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Paralysis ORPHA:18
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomo... ORPHA:2072
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Cough, Emphysema OMIM:613658
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Chediak-Higashi Syndrome
Tremor, Spontaneous, recurrent epistaxis, Neurodegeneration, Ataxia OMIM:214500
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion ORPHA:340
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Bloom Syndrome
Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure ORPHA:125
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis OMIM:601152
Boomerang Dysplasia
Neonatal death OMIM:112310
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Neonatal respiratory distress, Apnea, Stridor, Aspiration OMIM:614653
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Mucopolysaccharidosis, Type Vii
Neurodegeneration, Airway obstruction OMIM:253220
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Myhre Syndrome
Respiratory failure, Ataxia, Respiratory insufficiency OMIM:139210
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis ORPHA:276621
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure ORPHA:79404
African Trypanosomiasis
Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Tremor, Hemipares... ORPHA:3385
Gitelman Syndrome
Respiratory distress, Paralysis ORPHA:358
Costello Syndrome
Pneumothorax, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Tracheomalacia OMIM:218040
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Babinski sign, Vocal cord paralysis, Gait ataxia ORPHA:268882
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rigidity, Dyspnea, Respiratory failure, Hypertonia, Spasticity ORPHA:2636
Pineoblastoma
Paralysis ORPHA:251909
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Fraser Syndrome 2
Respiratory failure OMIM:617666
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia ORPHA:647
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ataxia, Abnormal pyramidal sign, Upper airway obstruction, Central nervous sy... ORPHA:581
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Pulmonary arterial hypertension, Respiratory failure, Miscarriage, Restrictive ventilatory defect ORPHA:96334
Glossopharyngeal Neuralgia
Vocal cord paralysis ORPHA:221098
Hurler Syndrome
Neurodegeneration OMIM:607014
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Head titubation, Spastic tetrapleg... OMIM:619475
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2556
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Neonatal death, Semilobar holoprosencephaly, Agenesis of corpus callosum, Lobar holoprosencephaly OMIM:618500
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis ORPHA:29072
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax ORPHA:731
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Spasticity, Respiratory failure, Global brain atrophy ORPHA:500150
Nijmegen Breakage Syndrome
Sinusitis, Neurodegeneration, Bronchiectasis, Recurrent pneumonia OMIM:251260
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure ORPHA:805
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Spasticity, Unilateral vocal cord paralysis, Cerebral atrophy OMIM:301030
Mednik Syndrome
Neonatal death, Death in infancy, Death in childhood OMIM:609313
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Vocal cord paralysis, Hypertonia, Spasticity, Cerebral... ORPHA:798
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347
Degcags Syndrome
Pneumonia, Asthma, Vocal cord paralysis, Rhinitis, Tracheomalacia, Pulmonary arterial hypertensio... OMIM:619488
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis ORPHA:324540
Codas Syndrome
Vocal cord paresis OMIM:600373
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Williams-Beuren Syndrome
Poor coordination, Vocal cord paralysis, Incoordination OMIM:194050
Primrose Syndrome
Neurodegeneration, Ataxia OMIM:259050

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 Ptbp2

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 Ptbp2.

No publications found that use IMPC mice or data for Ptbp2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ptbp2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptbp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ptbp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ptbp2em1(IMPC)Hmgu Exon Deletion Mice

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