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Gene: Chrna1 MGI:87885

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Gene Summary

Name:
cholinergic receptor nicotinic alpha 1 subunit
Synonyms:
Achr-1,  Acra

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
preweaning lethality, complete penetrance Chrna1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

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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 Chrna1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Chrna1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Decreased miniature endplate potentials, Facial palsy, Scoliosis OMIM:608930
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Facial palsy, Fatigable weakness of neck muscles, Scoliosis, Fatigable w... ORPHA:98913
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature OMIM:253290

The table below shows human diseases predicted to be associated to Chrna1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Scoliosis ORPHA:640
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clonus, Upper limb spas... OMIM:611225
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Abnormal peripheral nervous system synaptic transmission, Facial palsy, Fat... ORPHA:353327
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Periodic paralysis, Hyperlordosis OMIM:614198
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... ORPHA:95434
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Juvenile Primary Lateral Sclerosis
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron mo... ORPHA:247604
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Decreased miniature endplate potentials, Prolonged miniature endplate currents OMIM:616321
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Scoliosis, Paralysis OMIM:605285
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Prolonged miniature endplate currents, Scoliosis, Hyperlordosis OMIM:603034
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T... OMIM:607225
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc... ORPHA:803
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Paralysis OMIM:300857
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis OMIM:608634
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Lethal Congenital Contracture Syndrome 8
Neonatal death, Facial diplegia, Vocal cord paralysis, Death in infancy OMIM:616287
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:254210
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Tremor, Kyphosis, Scoliosis, Abnormal nerve conduction velocity ORPHA:101075
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... ORPHA:35689
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Decreased miniature endplate potentials, Facial palsy, Scoliosis OMIM:608930
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... OMIM:605809
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Scoliosis ORPHA:101078
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal motor... OMIM:610743
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho... OMIM:611890
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Respiratory paralysis, P... ORPHA:681
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Parkinsonism, Fatigable w... ORPHA:1320
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Optic atrophy, Optic disc pallor, Scoliosis OMIM:617087
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls OMIM:300718
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Kyphosis, Paraparesis, Optic atrophy, Scoliosis, Abnormal nerve conduction velocity ORPHA:99014
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Scoliosis, Hyperlordosis OMIM:611067
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand tremor, Ankle clonus, Up... OMIM:614409
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis OMIM:616286
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ata... OMIM:205100
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Decreased compound muscle action potential amplitude, Scoliosis, Spinal rigidity OMIM:618323
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Facial palsy, Fatigable weakness of neck muscles, Scoliosis, Fatigable w... ORPHA:98913
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Kyphosis, Optic atrophy, Spastic tetraplegia OMIM:618237
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents OMIM:601462
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Postural tremor, Abnormal spinal cord morphology, Babinski sign, Vocal cord paralysis, Optic atro... ORPHA:99947
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis OMIM:617404
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia OMIM:303350
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis OMIM:613710
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Neuropathic spinal arthropathy, Decreased motor nerve conduction velocity, Vocal cord paresis, De... OMIM:607706
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor, Clumsiness, Eyelid myoclonus, Myoclonus, Scoliosi... ORPHA:2590
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Kyphosis, Scoliosis OMIM:616756
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Orthostatic hypotension, Spastic paraplegia, Tetraparesis, Abnormal upper mot... OMIM:263570
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Arnold-Chiari Malformation Type I
Myelopathy, Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the tw... ORPHA:268882
Fetal Akinesia Deformation Sequence 4
Neonatal death, Kyphosis, Prenatal death, Short neck OMIM:618393
Variegate Porphyria
Paralysis OMIM:176200
Acute Peripheral Arterial Occlusion
Paralysis ORPHA:90064
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Neurogenic bladder, Facial-lingual fasciculations, Babins... ORPHA:276244
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Scoliosis, Abnormality of the cervical spin... ORPHA:48431
Van Den Bosch Syndrome
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Ataxia, Tongue fasciculations OMIM:620007
Gm1-Gangliosidosis, Type Iii
Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... OMIM:613954
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Spastic Paraplegia 53, Autosomal Recessive
Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Widening of cervical spinal canal, Neonatal death OMIM:253310
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Lopes-Maciel-Rodan Syndrome
Tremor, Kyphosis, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Scoliosis, Spa... OMIM:617435
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Lower limb spasticity, Hyperlordosis, Kyphosis, Babinski sign, Fasciculations, Scoliosis OMIM:615290
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Kyphosis, Babinski sign, Optic atrophy, Spastic ... OMIM:609541
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Death in infancy ORPHA:1354
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations OMIM:616437
Boucher-Neuhauser Syndrome
Ataxia, Gait ataxia, Abnormal upper motor neuron morphology, Spasticity, Intention tremor OMIM:215470
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Stuve-Wiedemann Syndrome 2
Neonatal death, Stillbirth, Scoliosis, Death in adolescence OMIM:619751
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Abnormal motor neuron mo... ORPHA:52430
Machado-Joseph Disease Type 1
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Abnormal pyramidal sign, Vocal ... ORPHA:276238
Machado-Joseph Disease Type 2
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Abnormal pyramidal sign, Vocal ... ORPHA:276241
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Kyphosis, Clonus ORPHA:319199
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Decreased nerve conduction velocity, Poor gross motor coordinatio... ORPHA:99948
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Synaptic Congenital Myasthenic Syndromes
Facial palsy, Prolonged miniature endplate currents, Abnormal synaptic transmission at the neurom... ORPHA:98915
Winchester Syndrome
Kyphosis OMIM:277950
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Kyphosis, Scoliosis ORPHA:3454
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Spasticity, Scoliosis ORPHA:2429
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Facial palsy, Kyphosis, Vocal cord paralysis, Truncal ataxia, Clumsiness, Ankle clonus, T... OMIM:211530
Immunoneurologic Disorder, X-Linked
Neonatal death, Spastic paraplegia OMIM:300076
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... ORPHA:43
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Fatigable weakness of distal ... ORPHA:171436
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia, Horner syndrome OMIM:141300
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:85317
Atypical Rett Syndrome
Involuntary movements, Tremor, Kyphosis, Limb myoclonus, Gait ataxia, Pill-rolling tremor, Scolio... ORPHA:3095
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnormality of extrapyramidal motor funct... ORPHA:500180
Sjögren-Larsson Syndrome
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity ORPHA:816
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Facial palsy, Hyperlordosis, Tremor, Kyphosis, Babinski sign, Blepharospasm, Hyperto... OMIM:128100
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Tick-Borne Encephalitis
Back pain, Speech apraxia, Incoordination, Facial palsy, Paralysis, Tremor, Abnormal glossopharyn... ORPHA:297
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Ataxia, Scoliosis OMIM:300861
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls ORPHA:75840
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spasticity OMIM:221770
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Vocal cord paresis, Scoliosis, Gait ataxia OMIM:614895
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Ataxia, Kyphosis, Fasciculations, Scoliosis, Spasticity, Progressive spast... ORPHA:464282
Myasthenic Syndrome, Congenital, 20, Presynaptic
Fatigable weakness, Kyphosis, Facial palsy, Scoliosis OMIM:617143
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hyperkinetic movements, Fascicu... ORPHA:2912
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder, Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, ... ORPHA:500144
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Optic disc pallor, Spasticity, Death in infancy OMIM:613730
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Resting tremor, Babinski sign, Hoffmann sign, Spastic paraplegia, Gait ata... OMIM:601162
Japanese Encephalitis
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, We... ORPHA:79139
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Spasticity ORPHA:352490
Ichthyosis, Congenital, Autosomal Recessive 4B
Neonatal death, Death in infancy, Rigidity OMIM:242500
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Crisponi Syndrome
Kyphosis, Hypertonia, Scoliosis, Death in infancy ORPHA:1545
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Ataxia, Scoliosis OMIM:618124
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Cerebral palsy, Hypertonia, Scoliosis OMIM:615834
Autosomal Recessive Ataxia, Beauce Type
Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clumsiness, Ankle clonus, Fasc... ORPHA:88644
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Frequent falls OMIM:606612
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
Snakebite Envenomation
Pseudobulbar paralysis, Respiratory paralysis, Paralysis ORPHA:449285
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Tongue fasciculation... ORPHA:1145
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Gait ataxia, Abnormal sens... ORPHA:88628
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... ORPHA:2635
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Rigidity, Kyphosis, Babinski sign, Abnormal ... ORPHA:97349
Sialidosis Type 1
Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Slurred speech, Abnormal form of t... ORPHA:812
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Lumbar hyperlordosis, Optic atrophy... OMIM:601152
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Tremor, Polyminimyoclonus, Fasciculations, Scoliosis, Vocal cord paresis OMIM:619574
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death, Limb hypertonia OMIM:615918
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Baralle-Macken Syndrome
Kyphosis, Spasticity OMIM:619255
Myopathy, Centronuclear, 2
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:255200
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... OMIM:156530
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Kyphosis, Scoliosis ORPHA:2181
Hyperkalemic Periodic Paralysis
Death in infancy, Periodic hyperkalemic paralysis, Death in early adulthood, Cerebral palsy, Hype... ORPHA:682
Sialidosis Type 2
Tremor, Kyphosis, Ataxia ORPHA:87876
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Apraxia, Oculomotor apraxia, Spasti... OMIM:314580
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Pelizaeus-Merzbacher Disease
Ataxia, Kyphosis, Optic atrophy, Choreoathetosis, Scoliosis, Spasticity ORPHA:702
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Scoliosis, Short neck ORPHA:178148
Marinesco-Sjogren Syndrome
Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity OMIM:248800
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Facial palsy, Spinal rigidity OMIM:615084
Glioblastoma
Paralysis ORPHA:360
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Kyphosis OMIM:618138
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:618484
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Hemivertebrae, Scoliosis, Neonatal death ORPHA:85284
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Short neck, Multinucleated neuron OMIM:236500
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paralysis, Scoliosis ORPHA:98863
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:181405
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor functio... OMIM:605711
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Optic atrophy, Ataxia ORPHA:324737
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
4Q21 Microdeletion Syndrome
Tremor, Kyphosis, Scoliosis, Short neck ORPHA:238750
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Jaberi-Elahi Syndrome
Appendicular spasticity, Tremor, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Choreoathetosis... OMIM:617988
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Flynn-Aird Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:2047
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Scoliosis ORPHA:98853
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Scoliosis, Frequent falls OMIM:607155
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis OMIM:619797
Wieacker-Wolff Syndrome, Female-Restricted
Facial palsy, Short neck, Kyphosis, Scoliosis, Oculomotor apraxia, Spasticity OMIM:301041
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal cord compressi... ORPHA:94068
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... OMIM:606070
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Arthrogryposis, Distal, Type 5
Kyphosis, Hypertonia, Scoliosis OMIM:108145
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Gm1-Gangliosidosis, Type I
Death in infancy, Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Beak... OMIM:230500
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... ORPHA:93314
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Rett Syndrome
Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity OMIM:312750
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor, Optic atrophy, Vocal cor... ORPHA:99956
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Death in early adulthood, Scoliosis ORPHA:79107
Fetal Gaucher Disease
Neonatal death, Death in infancy, Stillbirth, Hypertonia ORPHA:85212
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Optic atrophy, Spastic para... ORPHA:171629
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv... OMIM:253010
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyr... OMIM:614298
Rift Valley Fever
Back pain, Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Tethered cord, Short neck, Kyphosis, Dural ectasia, Syringo... OMIM:130720
Non-Functioning Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis ORPHA:94080
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Platysp... OMIM:618476
Abcd Syndrome
Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan... OMIM:600501
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis OMIM:254090
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Alpha-Mannosidosis
Kyphosis, Scoliosis, Short neck ORPHA:61
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Kyphosis, Gait ataxia OMIM:300354
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Cer... OMIM:177170
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Neonatal death, Frequent falls OMIM:620351
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Inhalational Botulism
Paralysis ORPHA:254504
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis ORPHA:37553
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Vocal cord paralysis, Tremor ORPHA:397744
Arthrogryposis, Distal, Type 4
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis OMIM:609128
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Vocal cord paralysis OMIM:615490
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:2311
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Gm1 Gangliosidosis
Ataxia, Hyperlordosis, Tremor, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Pl... ORPHA:354
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Clonus, Spastic tetraplegia, Death in adolescence, Myoclonus, Scoliosis, Death ... OMIM:619055
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Abnormality of the cervica... ORPHA:221098
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300280
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood OMIM:619334
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:3191
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Alexander Disease
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram... ORPHA:58
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Dural ectasia, Syring... ORPHA:2789
Fountain Syndrome
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta ORPHA:3219
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Stillbirth, Tongue fasciculations, Myoclonus, Death in childhood, Neonatal death OMIM:614922
Congenital Myopathy 15
Vocal cord paralysis OMIM:620161
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticity ORPHA:364028
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Thyrotoxic Periodic Paralysis
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis, Abnormality ... ORPHA:79102
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis, Spasticity OMIM:618443
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Kyphosis, Scoliosis, Limb hypertonia ORPHA:90322
Trisomy 20P
Incoordination, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Verteb... ORPHA:261318
3C Syndrome
Death in infancy, Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis ORPHA:7
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98855
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Vocal cord paresis, Amyotrophic lateral sclerosis ORPHA:600
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Spastic tetraplegia, Limb hypertonia OMIM:619909
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Charcot-Marie-Tooth Disease Type 4C
Neuropathic spinal arthropathy, Decreased motor nerve conduction velocity, Frequent falls, Optic ... ORPHA:99949
Fucosidosis
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... ORPHA:349
Schaaf-Yang Syndrome
Kyphosis, Scoliosis OMIM:615547
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Coffin-Lowry Syndrome
Death in early adulthood, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Hyperto... ORPHA:192
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Scoliosis, Periodic paralysis OMIM:170390
Developmental And Epileptic Encephalopathy 89
Hyperkinetic movements, Hypertonia, Tetraparesis, Scoliosis, Death in childhood, Neonatal death, ... OMIM:619124
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Aganglionic megacolon ORPHA:261222
Triosephosphate Isomerase Deficiency
Optic disc pallor, Death in infancy, Tremor, Kyphosis, Death in adolescence, Spasticity OMIM:615512
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis OMIM:203700
Trisomy 13
Kyphosis, Optic atrophy, Scoliosis ORPHA:3378
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck ORPHA:3409
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Optic atrophy, Abnormal pyramida... OMIM:617527
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia OMIM:169400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Optic disc pallor, Ataxia, Myoclonus OMIM:619167
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia OMIM:617190
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Paralysis, Oculomotor apraxia, Spastic paraplegia, Limb ataxia, Hypertonia, Scoliosi... ORPHA:2072
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Abnormality of extrapyramidal motor function, Parkinsonis... ORPHA:100070
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Kyphosis, Scoliosis OMIM:617061
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Rett Syndrome, Congenital Variant
Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity OMIM:613454
Micro Syndrome
Kyphosis, Spasticity, Optic atrophy, Scoliosis ORPHA:2510
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Sacral dimple, Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:314390
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Emanuel Syndrome
Kyphosis, Sacral dimple, Torticollis, Scoliosis OMIM:609029
3M Syndrome
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
15Q24 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:94065
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Progressive spastic quadriplegia... ORPHA:521426
Cono-Spondylar Dysplasia
Kyphosis, Poor coordination, Scoliosis, Short neck ORPHA:420794
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:253220
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Spastic diplegi... OMIM:300966
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Afibrinogenemia, Congenital
Neonatal death, Death in infancy, Death in adolescence, Death in childhood OMIM:202400
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death, Hypertonia, Limb hypertonia OMIM:615501
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Intention tremor OMIM:619708
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Ataxia, Tremor, Kyphosis, Dysmetria, Death in childhood, Intention tremor OMIM:212065
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Optic nerve hypoplasia, Facial palsy, Kyphosis, Optic atrophy, Scoliosis ORPHA:261349
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
19P13.12 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:254346
Mucopolysaccharidosis, Type Ii
Kyphosis, Papilledema, Short neck, Cervical cord compression OMIM:309900
Pycnodysostosis
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Spondylolisthesis ORPHA:763
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:2479
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Scoliosis, Short neck ORPHA:1798
African Trypanosomiasis
Papilledema, Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Trem... ORPHA:3385
X-Linked Intellectual Disability, Cabezas Type
Tremor, Kyphosis, Scoliosis, Short neck ORPHA:85293
Marden-Walker Syndrome
Kyphosis, Scoliosis, Short neck OMIM:248700
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Spasticity, Scoliosis OMIM:616449
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Gitelman Syndrome
Ataxia, Paralysis OMIM:263800
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis ORPHA:276621
Cowden Syndrome 5
Kyphosis, Scoliosis, Intention tremor OMIM:615108
Marshall-Smith Syndrome
Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the odontoid process, K... OMIM:602535
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica... ORPHA:1724
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Microphthalmia, Lenz Type
Kyphosis, Optic disc coloboma, Scoliosis, Hyperlordosis ORPHA:568
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Harrod Syndrome
Kyphosis, Scoliosis ORPHA:2115
Distal Triplication 15Q
Kyphosis, Syringomyelia, Scoliosis ORPHA:314588
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Optic atrophy, Scoliosis OMIM:618493
Cowden Syndrome 6
Kyphosis, Scoliosis, Intention tremor OMIM:615109
Koolen-De Vries Syndrome
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:96169
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Kyphosis, Scoliosis, Gait ataxia ORPHA:476126
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Mucopolysaccharidosis Type 6
Kyphosis, Ovoid vertebral bodies, Short neck ORPHA:583
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Scoliosis, Spasticity OMIM:301040
Weaver Syndrome
Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, Spasticity OMIM:277590
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Hurler-Scheie Syndrome
Kyphosis, Scoliosis OMIM:607015
16Q24.3 Microdeletion Syndrome
Kyphosis, Optic nerve hypoplasia, Scoliosis ORPHA:261250
Schwartz-Jampel Syndrome
Death in infancy, Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigi... ORPHA:800
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Scoliosis OMIM:619951
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Chorea, Spasticity ORPHA:1855
Cowden Syndrome 1
Kyphosis, Scoliosis, Intention tremor OMIM:158350
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Biconcave vertebral bodies, C1-C2 sublu... OMIM:607014
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Spondylolisthesis OMIM:610443
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis ORPHA:2215
Wolf-Hirschhorn Syndrome
Sacral dimple, Tethered cord, Ataxia, Kyphosis, Optic atrophy, Abnormal form of the vertebral bod... ORPHA:280
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis ORPHA:29072
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
2Q31.1 Microdeletion Syndrome
Short neck, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scoliosis ORPHA:251014
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Dural ectasia OMIM:616914
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Cohen Syndrome
Kyphosis, Optic atrophy, Scoliosis ORPHA:193
Alstrom Syndrome
Kyphosis, Scoliosis OMIM:203800
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Vocal cord paralysis, Hyperkinetic movements, Athetoid cerebral palsy OMIM:617799
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Noonan Syndrome 14
Kyphosis, Short neck OMIM:619745
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Aganglionic megacolon, Scoliosis, Hyperlordosis OMIM:162300
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Scoliosis OMIM:617602
Camurati-Engelmann Disease
Ataxia, Facial palsy, Hyperlordosis, Kyphosis, Optic atrophy, Abnormality of the vertebral column... ORPHA:1328
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Spasticity, Scoliosis ORPHA:464738
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Classic Homocystinuria
Kyphosis, Optic atrophy, Scoliosis, Hemiplegia/hemiparesis ORPHA:394
Cockayne Syndrome
Optic disc pallor, Neurogenic bladder, Ataxia, Action tremor, Decreased nerve conduction velocity... ORPHA:191
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Scoliosis ORPHA:500055
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Scoliosis, Anterior clef... OMIM:265000
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Dural ectasi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Dural ectasi... ORPHA:363958
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Prader-Willi Syndrome
Poor fine motor coordination, Kyphosis, Poor gross motor coordination, Scoliosis OMIM:176270
Cerebrocostomandibular Syndrome
Kyphosis, Spina bifida, Death in infancy ORPHA:1393
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis, Death in childhood OMIM:619005
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Head titubation, Kyphos... OMIM:619475
Cockayne Syndrome Type 3
Optic disc pallor, Neurogenic bladder, Kyphosis, Scoliosis, Abnormality of peripheral nerve condu... ORPHA:90324
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Gait ataxia, Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Atelis Syndrome 2
Kyphosis, Sacral dimple, Dysmetria OMIM:620185
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Cockayne Syndrome B
Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Kyphosis, Tremo... OMIM:133540
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Gitelman Syndrome
Paralysis ORPHA:358
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Kyphosis, Hemivertebrae, Scoliosis, Short neck OMIM:618223
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Autosomal Recessive Robinow Syndrome
Death in infancy, Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1507
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Syringomyelia, Scoliosis, Biconcave verte... ORPHA:955
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Sacral dimple, Scoliosis, Short neck OMIM:616894
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Aganglionic megacolon, Kyphoscoliosis, Short neck, Vocal cord paralysis,... ORPHA:798
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Abnormality of the cervical spine, Optic disc pallor, Scoliosis ORPHA:464311
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Scoliosis ORPHA:398069
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
X-Linked Intellectual Disability, Snyder Type
Kyphosis, Involuntary movements, Myoclonus, Kyphoscoliosis ORPHA:3063
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Cleidocranial Dysplasia 1
Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Mgat2-Cdg
Kyphosis, Scoliosis ORPHA:79329
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Kyphosis, Hypertonia, Scoliosis, Short neck OMIM:619194
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Abnormality of the cervical spine, Optic disc pallor, Scoliosis ORPHA:464306
Osteogenesis Imperfecta
Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebr... ORPHA:666
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis OMIM:618050
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Short neck, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies... ORPHA:818
Mend Syndrome
Kyphosis, Sacral dimple, Abnormal auditory evoked potentials, Limb hypertonia ORPHA:401973
Frank-Ter Haar Syndrome
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis OMIM:249420
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Scoliosis OMIM:300967
Cockayne Syndrome A
Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Kyphosis, Tremo... OMIM:216400
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Short neck ORPHA:77301
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis, Gait ataxia ORPHA:457359
Cdags Syndrome
Kyphosis OMIM:603116
Ramon Syndrome
Kyphosis, Optic disc pallor, Scoliosis OMIM:266270
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis ORPHA:1969
Zttk Syndrome
Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis, Spasticity OMIM:617140
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Aspartylglucosaminuria
Kyphosis, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spond... OMIM:208400
Poland Syndrome
Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2911
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Clonus, Kyphosis, Platyspondyly, Scoliosis ORPHA:534
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Mend Syndrome
Kyphosis, Sacral dimple, Hypertonia OMIM:300960
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Ataxia, Kyphosis, Hypertonia, Scoliosis ORPHA:268261
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... ORPHA:3042
Marden-Walker Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2461
Marfan Syndrome
Kyphosis, Spondylolisthesis, Scoliosis, Dural ectasia ORPHA:558
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Facial palsy, Scoliosis ORPHA:2658
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Orthostatic hypotension OMIM:304150
Stickler Syndrome
Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form of the vertebral bodies, P... ORPHA:828
Williams Syndrome
Death in early adulthood, Sacral dimple, Ataxia, Involuntary movements, Hyperlordosis, Tremor, Ky... ORPHA:904
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis ORPHA:2232
Cowden Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:201
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Tethered cord, Kyphosis, Abnormal form of the vertebral bodies, ... OMIM:194190
1P36 Deletion Syndrome
Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Spinal canal stenosis, Scoliosis ORPHA:1606
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Mucolipidosis Type Ii
Kyphosis ORPHA:576
Degcags Syndrome
Sacral dimple, Vocal cord paralysis OMIM:619488
17Q11 Microdeletion Syndrome
Abnormal central motor function, Kyphosis, Dural ectasia, Abnormality of the vertebral column, Be... ORPHA:97685
Neurofibromatosis Type 1
Kyphosis, Ataxia, Scoliosis ORPHA:636
Coffin-Siris Syndrome 1
Sacral dimple, Kyphosis, Gait ataxia, Scoliosis, Spina bifida occulta OMIM:135900
Acromegaly
Kyphosis, Cerebral palsy, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Kyphosis, Cerebral palsy, Spinal canal stenosis ORPHA:314769
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal ver... ORPHA:2273
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Turner Syndrome Due To Structural X Chromosome Anomalies
Kyphosis, Scoliosis, Short neck ORPHA:99413
Turner Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:881
Mosaic Monosomy X
Kyphosis, Scoliosis, Short neck ORPHA:99228
Monosomy X
Kyphosis, Scoliosis, Short neck ORPHA:99226
Williams-Beuren Syndrome
Incoordination, Poor coordination, Vocal cord paralysis, Kyphoscoliosis OMIM:194050
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Scoliosis OMIM:309000
Sotos Syndrome
Sacrococcygeal teratoma, Aganglionic megacolon, Tremor, Kyphosis, Poor coordination, Scoliosis, A... ORPHA:821
Proteus Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:744
Wrinkly Skin Syndrome
Kyphosis, Scoliosis OMIM:278250
Branchiooculofacial Syndrome
Hyperlordosis, Kyphosis, Facial palsy, Short neck OMIM:113620
Primrose Syndrome
Kyphosis, Posterior scalloping of vertebral bodies, Ataxia, Irregular vertebral endplates OMIM:259050
Viss Syndrome
Kyphosis, Butterfly vertebrae, Scoliosis OMIM:619472
Yunis-Varon Syndrome
Kyphosis, Anterior concavity of thoracic vertebrae OMIM:216340
Alström Syndrome
Optic disc pallor, Thoracic scoliosis, Incoordination, Ataxia, Kyphosis, Poor fine motor coordina... ORPHA:64
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature OMIM:253290

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 Chrna1

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 Chrna1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Assessment of the expression and role of the α1-nAChR subunit in efferent cholinergic function during the development of the mammalian cochlea. Journal of neurophysiology (April 2016) Chrna1tm1c(EUCOMM)Hmgu Chrna1tm1a(EUCOMM)Hmgu Chrna1tm1d(EUCOMM)Hmgu Chrna1tm1b(EUCOMM)Hmgu PMC4978794
Targeted disruption of organic cation transporter 3 attenuates the pharmacologic response to metformin. Molecular pharmacology (April 2015) Chrna1tm1c(EUCOMM)Hmgu PMC4468641

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
Chrna1tm27429(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Chrna1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Chrna1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Chrna1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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