Gene Summary

Name:
kinesin family member 5A
Synonyms:
Kns,  Kif5,  Khc,  D10Bwg0738e

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
unresponsive to tactile stimuli Kif5atm1b(EUCOMM)Wtsi HOM E18.5 0.00
impaired pupillary reflex Kif5atm1b(EUCOMM)Wtsi HET Early adult 1.28×10-08
abnormal auditory brainstem response Kif5atm1b(EUCOMM)Wtsi HET   Early adult 1.22×10-06
cyanosis Kif5atm1b(EUCOMM)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance Kif5atm1b(EUCOMM)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 1)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 1)
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 1)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 1)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 1)
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A homozygote 0.0% (0 of 1)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

MicroCT E18.5

Embryo reconstruction

8 Images

X-ray

XRay Images Forepaw

10 Images

Gross Morphology Embryo E18.5

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Kif5a 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 Kif5a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Autosomal Dominant Spastic Paraplegia Type 10
Hearing impairment, Rod-cone dystrophy ORPHA:100991
Spastic Paraplegia 10, Autosomal Dominant
OMIM:604187

The table below shows human diseases predicted to be associated to Kif5a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis OMIM:267450
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Abnormal lung morpholog... ORPHA:70589
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ... ORPHA:70587
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Ground-glass opacification, Cyanosis, Diffuse reti... ORPHA:91359
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Pyknoachondrogenesis
Stillbirth OMIM:265880
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Meconium Aspiration Syndrome
Atelectasis, Transient pulmonary infiltrates, Respiratory distress, Aspiration pneumonia, Pneumot... ORPHA:70588
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Ground-glass opacification, Cystic pattern on pulmonary HRCT, ... OMIM:610978
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Breath-Holding Spells
Cyanosis OMIM:607578
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or... ORPHA:2032
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleural effusion, Abnorm... ORPHA:2902
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection... OMIM:620321
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Syringomye... ORPHA:2357
Cleft Larynx, Posterior
Cyanosis OMIM:215800
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Hypoxemia, Pulmonary opacity ORPHA:330012
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death, Pulmonary hypoplasia OMIM:253310
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Cryptogenic Organizing Pneumonia
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... ORPHA:1302
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death OMIM:300219
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death OMIM:611890
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Hypopigmentation of the fundus, Aganglio... OMIM:600501
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Cyanosis, Choreoathetosis ORPHA:71277
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis ORPHA:896
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Cyanosis ORPHA:2414
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Apnea, Cyanosis, Tachypnea, Pneumothorax, Recurrent respira... ORPHA:2257
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer morphology, A... ORPHA:1215
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Cyanosis, Tremor OMIM:250800
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Bronchiolitis Obliterans
Pneumonia, Ground-glass opacification, Respiratory tract infection, Bronchiolitis obliterans, Hyp... ORPHA:1303
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Hereditary Methemoglobinemia
Athetosis, Limb dystonia, Cyanosis ORPHA:621
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord... OMIM:602433
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Tachypnea, Intraalveolar phospholipid accumulation OMIM:300770
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia ORPHA:2590
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis ORPHA:137914
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... ORPHA:244
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t... ORPHA:60025
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Sensorineural hearing ... OMIM:619260
Chiari Malformation Type Ii
Syringomyelia, Cyanosis, Cervical myelopathy, Spina bifida OMIM:207950
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Cyanosis ORPHA:464453
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary i... OMIM:612387
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia ORPHA:264675
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Intraalveolar phospholipid accumulation, Cyanosis ORPHA:747
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Nodular pattern ... ORPHA:333
Cardiomyopathy, Dilated, 2H
Tachypnea, Neonatal death OMIM:620203
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin ORPHA:2314
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis ORPHA:2004
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis, Recurrent ... OMIM:618426
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... OMIM:613177
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Opisthotonus, Bruising susceptibility ORPHA:335
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Acrocyanosis, Intention tremor OMIM:614407
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Hsd10 Disease, Infantile Type
Dystonia, Cyanosis, Choreoathetosis ORPHA:391428
Lujo Hemorrhagic Fever
Respiratory distress, Purpura, Atelectasis, Ecchymosis ORPHA:319213
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:105400
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa... OMIM:233450
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Death in childhood, Tachypnea, Recurrent respiratory infections, Pulmonary fibrosis OMIM:618278
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmonary hy... ORPHA:536467
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia ORPHA:3309
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Dravet Syndrome
Action tremor, Cyanotic episode ORPHA:33069
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress... ORPHA:98914
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:555874
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Short-Rib Thoracic Dysplasia 12
Neonatal death, Atelectasis, Pulmonary hypoplasia OMIM:269860
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Cyanosis ORPHA:3426
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis OMIM:617892
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:205100
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Opisthotonus, Cyanosis ORPHA:3304
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Pleural empyema ORPHA:2038
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Ch... ORPHA:206436
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Zygomycosis
Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac... ORPHA:73263
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... ORPHA:101085
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea ORPHA:159
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:300857
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Atelectasis ORPHA:258
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Opisthotonus, Cyanosis, Choreoathetosis OMIM:619580
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia OMIM:620371
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Dystonia, Acrocyanosis OMIM:225750
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Sepsis In Premature Infants
Cyanosis, Petechiae, Jaundice, Nasal flaring, Purpura ORPHA:90051
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis OMIM:617239
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema OMIM:261740
Complete Atrioventricular Septal Defect
Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia ORPHA:1329
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Resting tre... ORPHA:909
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Respiratory tract infection, Atelectasis ORPHA:365
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Abnormal pleura morphology, Pulmonary infiltrates, Purpura, Acrocyanosis, Recurr... ORPHA:183
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Paucity of anterior horn motor neurons, Hyperintensity of ... ORPHA:79139
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Degeneration of anter... ORPHA:276244
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Double Outlet Left Ventricle
Pulmonary artery stenosis, Tachypnea, Cyanosis ORPHA:3427
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Hearing impairment, Abnormality of peripheral nerve conduc... ORPHA:90321
Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:600274
Ethylene Glycol Poisoning
Pulmonary edema, Tachypnea, Cyanosis, Episodic respiratory distress ORPHA:31826
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Abnormal pulmonary thoracic imaging f... ORPHA:980
Criss-Cross Heart
Cyanosis ORPHA:1461
22Q11.2 Deletion Syndrome
Purpura, Spina bifida, Atelectasis, Abnormal lung lobation ORPHA:567
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Atrial Septal Defect, Ostium Primum Type
Tachypnea, Pulmonary artery dilatation, Cyanosis, Recurrent respiratory infections ORPHA:99106
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy OMIM:617478
Esophageal Atresia
Bronchitis, Respiratory distress, Cyanosis, Episodic respiratory distress, Recurrent respiratory ... ORPHA:1199
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia OMIM:619879
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Recurrent respiratory infections, Atelectasis ORPHA:534
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Congenital Tracheal Stenosis
Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce... ORPHA:141127
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Cyanosis, Exaggerated startle response OMIM:620423
Relapsing Polychondritis
Erythema, Purpura, Atelectasis ORPHA:728
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice, Bronchiectasis, Bronchitis ORPHA:60
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Spinal arteriovenous malformation, Nasal mucosa telangiectasia, Cyanosis, ... OMIM:610655
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith... OMIM:216400
Unilateral Polymicrogyria
Apnea, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Truncus Arteriosus
Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ... ORPHA:3384
Tarp Syndrome
Apnea, Cyanosis, Pulmonary hypoplasia ORPHA:2886
Chand Syndrome
Atelectasis ORPHA:1401
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Spinal arteriovenous malfor... OMIM:187300
Cockayne Syndrome B
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Decreased nerve condu... OMIM:133540
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Cyanosis, Death in infancy OMIM:252010
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Histiocytoid Cardiomyopathy
Pulmonary edema, Tachypnea, Cyanosis ORPHA:137675
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Anomalous pulmonary venous return ORPHA:99104
Aortic Arch Interruption
Respiratory distress, Tachypnea, Cyanosis, Aortopulmonary window ORPHA:2299
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Familial Dysautonomia
Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections ORPHA:1764
Myoclonus, Intractable, Neonatal
Apnea OMIM:617235
Poems Syndrome
Acrocyanosis, Pleural effusion, Plethora ORPHA:2905
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Total anomalous pulmonary venous return, Bilateral trilobed lung OMIM:306955
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... OMIM:123700
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:608627
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis OMIM:615911
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis OMIM:223900
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Digeorge Syndrome
Recurrent pneumonia, Recurrent sinusitis, Atelectasis OMIM:188400
Dermatomyositis
Erythema, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Diffuse reticular or finely nodu... ORPHA:221
Myasthenia Gravis
Acrocyanosis ORPHA:589
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Respiratory distress, Cyanosis, Apneic episode... ORPHA:99125
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis ORPHA:99103
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Postinfectious Vasculitis
Pneumonia, Palpable purpura, Cutis marmorata, Vasculitis in the skin, Recurrent streptococcus pne... ORPHA:48435
Aicardi-Goutières Syndrome
Cutis marmorata, Tremor, Prolonged neonatal jaundice, Dystonia, Acrocyanosis ORPHA:51
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Cyanosis ORPHA:293987
Idiopathic Camptocormia
Syringomyelia, Myelitis, Amyotrophic lateral sclerosis ORPHA:1320
Eisenmenger Syndrome
Respiratory distress, Aortopulmonary window, Hypoxemia, Cyanosis ORPHA:97214
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Pitt-Hopkins Syndrome
Acrocyanosis ORPHA:2896
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... ORPHA:740
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc... ORPHA:287
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis ORPHA:51608
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis, Bruising susceptibility ORPHA:285
Autosomal Dominant Spastic Paraplegia Type 10
Hearing impairment, Rod-cone dystrophy ORPHA:100991
Spastic Paraplegia 10, Autosomal Dominant
OMIM:604187

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 Kif5a

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 Kif5a.

No publications found that use IMPC mice or data for Kif5a.

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
Kif5atm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Kif5atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Kif5aem1(IMPC)Ccpcz Exon Deletion Mice
Kif5atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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