Gene Summary

Name:
nuclear export mediator factor
Synonyms:
1500011I12Rik,  Sdccag1,  4933405E14Rik

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
increased heart weight Nemftm1b(EUCOMM)Hmgu HET   Early adult 7.29×10-06
preweaning lethality, complete penetrance Nemftm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal tail morphology Nemftm1b(EUCOMM)Hmgu HOM E18.5 0.00
decreased circulating glucose level Nemftm1b(EUCOMM)Hmgu HET   Early adult 9.90×10-07

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose 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)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thalamus 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
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Axial skeleton N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Brain N/A heterozygote Ambiguous
Brain N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Midbrain N/A homozygote Ambiguous
Oral cavity N/A heterozygote 100% (1 of 1)
Oral cavity N/A homozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skeleton N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skin N/A heterozygote Ambiguous
Skin N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (1 of 1)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 0.0%
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)
axial skeleton 1.56% (1 of 64)
brain 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
rib pre-cartilage condensation 1.75% (1 of 57)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

Associated Images

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

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Forepaw

8 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Sleep Wake

Wake state (bmp file)

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Adult LacZ

LacZ Images Section

32 Images

MicroCT E18.5

Embryo reconstruction

6 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

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

7 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Peripheral axonal neuropathy, Respiratory distress OMIM:619099

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease Type 2B1
Inability to walk, Sensory axonal neuropathy, Steppage gait, Shoulder girdle muscle atrophy, Clus... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Steppage... OMIM:614436
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Respiratory insufficiency, Abnormality of peripheral nerve conduction, Amyotrophy of ankle muscul... ORPHA:90103
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Lower limb muscle weakness, Gait disturbance, Steppage gait, Foot dorsiflexor weakness, Upper lim... OMIM:616155
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Parado... OMIM:620011
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... OMIM:618138
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... OMIM:602433
Mitochondrial Dna Depletion Syndrome 18
Falls, Hand muscle atrophy, Failure to thrive, Weakness of facial musculature, Foot dorsiflexor w... OMIM:618811
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... OMIM:604320
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Dista... OMIM:302800
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... OMIM:601596
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Knee flexion contracture, Decreased number of peripheral myelinated nerve fibers, Decreased muscl... OMIM:615490
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Gait... OMIM:604484
Ethanolaminosis
Cardiomegaly OMIM:227150
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Amyotrophy, Hereditary Neuralgic
Short stature, Peripheral axonal degeneration, Brachial plexus neuropathy, Skeletal muscle atroph... OMIM:162100
Diaminopentanuria
Neurodegeneration, Ataxia OMIM:222350
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Short stature, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia,... OMIM:604168
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Gait ataxia, Truncal ataxia, Peripheral axonal degeneration, Limb ataxia, Ataxia, Loss of ambulat... OMIM:208920
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration OMIM:610951
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower ... OMIM:614373
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Proximal amyotrophy, Gait disturbance, Amyotrophic later... OMIM:608030
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Respiratory distress,... OMIM:300580
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Short stature, Congenital diaphragmatic hernia, Absent pubertal growth spurt, Cerebe... ORPHA:438134
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Peripheral axonal neuropathy, Respiratory distress OMIM:619099
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Myopathy And Diabetes Mellitus
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... ORPHA:2596
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Motor axonal neuropathy, Gait disturbance, Distal amyotrophy, Neurodegeneration OMIM:615643
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Camptodactyly of finger, Increased variability in muscle fiber diamete... OMIM:614399
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea ORPHA:141152
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Increased variability in muscle fiber diameter, Respiratory distress, ... ORPHA:238329
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Decreased body weight, Inability to walk, Axonal loss, Ataxia, Cerebra... OMIM:617672
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Small for gestational age, Abnormal respiratory system physio... ORPHA:70589
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Knee flexion contracture, Hip contracture, Spinal muscular atrophy, De... ORPHA:1145
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait ataxia, Abnormal sensory nerve conduction velocity, Abnormality of peripheral nerves, Gait d... ORPHA:88628
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Dysdiadochokinesis, Optic atrophy, Ataxia, Dysmetria, Difficulty walking, Cerebellar atrophy, Atr... OMIM:612319
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Type 2 ... OMIM:605809
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Abnormal autonomic nervous system physiology, Diffuse cerebellar atrophy, O... ORPHA:478029
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Type 2 muscle fib... OMIM:254210
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Flexion contracture, Proximal muscle weakness in lower limbs, Axonal l... ORPHA:101097
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Combined Oxidative Phosphorylation Deficiency 29
Global brain atrophy, Optic atrophy, Optic neuropathy, Cerebellar atrophy, Axonal degeneration OMIM:616811
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Myopathy, Respiratory distress, Optic atrophy ORPHA:26792
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Cerebral cortical atrophy, Flexion contracture, Respiratory distress OMIM:618201
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Spinal muscular atrophy, Ventilator dependence with inability to wean,... ORPHA:254875
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy OMIM:617892
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... ORPHA:411593
Stt3B-Cdg
Cerebellar atrophy, Failure to thrive, Respiratory distress, Optic atrophy ORPHA:370924
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory distress, Macroglossia, Myopathy, Incre... ORPHA:254864
Spinal muscular atrophy, type I, with congenital bone fractures
Flexion contracture, Decreased muscle mass, Generalized amyotrophy, Degeneration of anterior horn... OMIM:271225
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Myopathy, Respiratory distress ORPHA:91130
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Failure to thrive, Respiratory distress, Optic atrophy OMIM:615597
Pleural Mesothelioma
Weight loss, Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dysp... ORPHA:50251
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Failure to thrive, Upper ai... ORPHA:60032
Perching Syndrome
Joint contracture, Camptodactyly, Respiratory distress OMIM:617055
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Ataxia OMIM:615889
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... ORPHA:264675
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Abnormal respiratory system physiology, Dyspnea, Amyotrophic lateral sclero... ORPHA:803
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Failure ... ORPHA:91359
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Dysdiadochokinesis, Peripheral axonal degen... OMIM:615157
Immunodeficiency 95
Respiratory failure, Respiratory distress, Recurrent viral pneumonia OMIM:619773
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Cryptogenic Organizing Pneumonia
Pneumothorax, Weight loss, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory def... ORPHA:1302
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Neurogenic Arthrogryposis Multiplex Congenita
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... ORPHA:1143
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction OMIM:613642
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Cough, Respiratory failure, Tachypnea OMIM:263000
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Adrenomyeloneuropathy
Abnormality of central somatosensory evoked potentials, Spastic gait, Peripheral axonal degenerat... ORPHA:139399
Laryngotracheal Angioma
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
De Sanctis-Cacchione Syndrome
Global brain atrophy, Optic atrophy, Choreoathetosis, Ataxia, Severe short stature, Scissor gait,... OMIM:278800
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Frontotemporal cerebral atrophy, Falls, Shuffling gait, Short stepped shuff... ORPHA:412066
Krabbe Disease
Optic atrophy, Diffuse cerebral atrophy, Failure to thrive, Decreased nerve conduction velocity, ... OMIM:245200
Ataxia-Telangiectasia-Like Disorder 2
Flexion contracture, Short stature, Ataxia, Cerebellar atrophy, Unsteady gait, Neurodegeneration OMIM:615919
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:411703
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Respiratory distress, Failure to thrive, Ragged-red muscle fibers, Respir... OMIM:613561
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Ataxia, Neuronal loss in central nervous system, Decreased nerve conduction veloci... OMIM:256600
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress, Flexion contracture ORPHA:77260
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Camptodactyly, Respiratory distress, Stillbirth, Neonatal death OMIM:619751
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Cerebral cortical atrophy, Respiratory distress, Failure to thri... OMIM:619272
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Respiratory distres... OMIM:616733
Bardet-Biedl Syndrome 16
Obesity, Respiratory distress OMIM:615993
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Brain atrophy, Irregular respiration, Respiratory... OMIM:604377
Succinic Acidemia
Respiratory distress OMIM:600335
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Weight loss, Respiratory distress, Upper airway obstruction,... ORPHA:142
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Loss of ambulation, Skeletal muscle atrophy, Amyotrophic... OMIM:608627
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Optic atrophy, Muscular dystrophy, Camptodactyly, Respiratory distress,... OMIM:608799
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Optic atrophy, Respiratory distress, Apnea, Cerebellar atrophy ORPHA:79097
Spastic Paraplegia 79B, Autosomal Recessive
Flexion contracture, Optic atrophy, Ataxia, Dysmetria, Loss of ambulation, Cerebral atrophy, Cere... OMIM:615491
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Motor axonal neuropathy, Gait disturbance, Ataxia, Abnormal lower motor neuron mor... OMIM:614298
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea OMIM:267450
Glycogen Storage Disease Vi
Hypoglycemia, Hepatomegaly OMIM:232700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Respiratory distress, Weight loss OMIM:612075
Angioedema, Hereditary, 1
Axonal degeneration, Peripheral axonal neuropathy OMIM:106100
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Left ventricular hypertrophy, Respiratory distress OMIM:616974
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Brain atrophy, Joint contracture of the hand, Smal... OMIM:214150
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Respiratory distress OMIM:300934
Neurodegeneration With Brain Iron Accumulation 5
Akinesia, Abnormal autonomic nervous system physiology, Cerebral atrophy, Cerebellar atrophy, Neu... OMIM:300894
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Ragged-red muscle fibers, Neuronal loss in central nervous system, Weakness of fac... OMIM:616239
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Cardiomyopathy ORPHA:35
Oculopharyngodistal Myopathy 1
Increased variability in muscle fiber diameter, Brain atrophy, Weight loss, Aspiration, Facial pa... OMIM:164310
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... ORPHA:1303
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Respiratory distress, Optic atrophy, Congenital contracture OMIM:615042
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Joint contracture, Respiratory distress OMIM:617977
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Hand muscle atrophy, Respiratory distress, ... OMIM:211530
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Hypoxemia, Respiratory distress, Aplasia/Hypoplasia of the diaph... ORPHA:2140
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress OMIM:237310
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitial pneumoni... OMIM:610913
Cerebrotendinous Xanthomatosis
Global brain atrophy, Tendon xanthomatosis, Abnormality of somatosensory evoked potentials, Optic... ORPHA:909
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... ORPHA:98915
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory failure, Exertional dyspnea, Hypoxemia, Respiratory distress, Apnea, Failure to thriv... OMIM:610921
Gm2 Gangliosidosis, Ab Variant
Short stature, Neurodegeneration, Cerebral atrophy, Postnatal growth retardation ORPHA:309246
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Flexion contracture, Abnormal muscle glycogen content, Respiratory dis... ORPHA:367
Multiple Carboxylase Deficiency
Limb muscle weakness, Respiratory distress, Optic atrophy, Tachypnea ORPHA:148
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea ORPHA:922
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Axial muscle stiffness, Respiratory distress ORPHA:240085
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Respiratory distress, Tachypnea ORPHA:45452
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Respiratory distress, Failure to thrive, Myopathy, Skeletal muscle atr... OMIM:615512
Episodic Ataxia Type 1
Cerebellar atrophy, Respiratory distress, Calf muscle hypertrophy ORPHA:37612
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Optic atrophy, Choreoathetosis, Diffuse cerebral atrophy, Loss o... ORPHA:391428
Myotonic Dystrophy 1
Facial diplegia, Respiratory distress, Cerebral atrophy OMIM:160900
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Aspiration, Calf muscle hypertrophy, Decreas... OMIM:618733
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Dysp... ORPHA:36238
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Respiratory distress, Optic atrophy ORPHA:79312
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Auriculocondylar Syndrome 2
Apnea, Snoring, Respiratory distress OMIM:614669
Malaria
Respiratory distress ORPHA:673
Pyruvate Dehydrogenase E2 Deficiency
Gait disturbance, Neurodegeneration, Difficulty walking, Broad-based gait ORPHA:79244
Neurodegeneration With Brain Iron Accumulation 3
Hypomimic face, Choreoathetosis, Neurodegeneration, Ataxia OMIM:606159
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Cerebellar atrophy, Failure to thrive, Flexion contracture, Respiratory distress ORPHA:544503
Adrenoleukodystrophy
Truncal ataxia, Limb ataxia, Neurodegeneration, Lower limb muscle weakness OMIM:300100
Avian Influenza
Pneumothorax, Rhabdomyolysis, Productive cough, Hypoxemia, Respiratory distress, Pleural effusion... ORPHA:454836
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, Pleural eff... ORPHA:2414
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... OMIM:262190
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia OMIM:618838
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Hepatomegaly OMIM:261750
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Respiratory distress ORPHA:89844
Infantile Krabbe Disease
Optic atrophy, Cachexia, Respiratory distress, Diffuse cerebral atrophy, Failure to thrive, Decre... ORPHA:206436
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Optic atrophy, Respiratory distress, Respiratory failure, Tachypnea OMIM:614299
Thyroid Lymphoma
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor ORPHA:97285
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Optic atrophy, Respiratory distress, Increased intramyocellular lipid droplet... OMIM:220110
Acute Lung Injury
Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea ORPHA:178320
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... ORPHA:70588
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Respiratory distress ORPHA:261304
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Dysdiadochokinesis, Optic atrophy, Dysmetria, Cerebral atrophy, Cerebellar atrophy, ... OMIM:610217
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait ataxia, Rhabdomyolysis, Optic atrophy, Gait disturbance, Ataxia, Acute rhabdomyolysis, Cereb... OMIM:616878
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy OMIM:609242
Multiple System Atrophy 1, Susceptibility To
Abnormal autonomic nervous system physiology, Ataxia, Skeletal muscle atrophy, Orthostatic hypote... OMIM:146500
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Global brain atrophy, Respiratory distress, Apnea, Failure to thrive, Cerebellar atrophy, Hypopne... OMIM:618426
Carnitine Deficiency, Systemic Primary
Failure to thrive, Myopathy, Reduced muscle carnitine level, Respiratory distress OMIM:212140
Congenital Myasthenic Syndrome
Episodic respiratory distress, Limb-girdle muscle weakness, Muscle fiber atrophy, Central sleep a... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Limb-girdle muscle weakness, Muscle fiber atrophy, Central sleep a... ORPHA:98914
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, Brain atrophy, Respiratory distress, Apnea, Recurrent pneu... ORPHA:314655
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Asthma, Hypoxemia, Respiratory distress, Oxygen desaturation on exertion, Crackles, Restrictive v... OMIM:610978
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Optic atrophy ORPHA:289916
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Increased variability in muscle fiber diameter, Respiratory distress, Stridor OMIM:615595
Cerebral Visual Impairment
Optic atrophy, Optic nerve hypoplasia, Central nervous system degeneration, Optic disc pallor, Ne... ORPHA:447788
Mucopolysaccharidosis, Type Ii
Tracheobronchomalacia, Flexion contracture, Asthma, Macroglossia, Recurrent pneumonia, Airway obs... OMIM:309900
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hepatomegaly OMIM:306000
Leigh Syndrome With Cardiomyopathy
Global brain atrophy, Optic atrophy, Respiratory distress, Apnea, Failure to thrive, Central hypo... ORPHA:70474
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Ciliary dyskinesia OMIM:606763
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Respiratory distress, Failure to thrive, Dyspnea, Respiratory failure ORPHA:2707
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death, Respiratory distress OMIM:300219
Primary Dystonia, Dyt4 Type
Torticollis, Respiratory distress, Eunuchoid habitus ORPHA:98805
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Cardiomyopathy, Familial Hypertrophic, 27
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... OMIM:618052
Holocarboxylase Synthetase Deficiency
Respiratory distress, Weight loss, Tachypnea ORPHA:79242
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Failure to thrive, Contractures of the large joints, Respiratory distress, Optic atrophy ORPHA:329178
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Oromandibular Dystonia
Torticollis, Respiratory distress, Weight loss ORPHA:93958
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Left ventricular hypertrophy, Respiratory distress, Macroglossia, Fail... ORPHA:308552
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy, Aspiration OMIM:272750
Moebius Syndrome
Camptodactyly, Respiratory distress, Facial diplegia, Congenital fibrosis of extraocular muscles,... OMIM:157900
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress, Macroglossia ORPHA:226313
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Episodic tachypnea, Small for gestational age, Exercise-induced rhabdomyolysis, Respiratory distr... ORPHA:26793
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Dyspnea, Respiratory distress ORPHA:2759
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Upper airway obstruction, Respiratory distress ORPHA:100057
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Flexion contracture, Exertional dyspnea, Lower limb muscle weakness, M... ORPHA:365
Tetanus
Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Respiratory distress... ORPHA:3299
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Neurodegeneration, Difficulty walking, Ataxia OMIM:618476
Tularemia
Pleural effusion, Pneumonia, Cough, Respiratory distress ORPHA:3392
Slc35A1-Cdg
Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Neurodegeneration With Brain Iron Accumulation 1
Global brain atrophy, Decreased muscle mass, Akinesia, Optic atrophy, Choreoathetosis, Gait distu... OMIM:234200
Farber Disease
Respiratory insufficiency, Flexion contracture, Brain atrophy, Respiratory distress, Failure to t... ORPHA:333
Congenital Tracheomalacia
Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Pneumothorax, ... ORPHA:95430
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress ORPHA:927
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Splenomegaly, Hepatomegaly OMIM:613027
Infant Acute Respiratory Distress Syndrome
Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea ORPHA:70587
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Gait ataxia, Left ventricular hypertrophy, Ataxia, Cerebral atrophy, Neurodegeneration OMIM:618321
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Cryptococcosis
Cerebral cortical atrophy, Respiratory distress, Pleural effusion, Dyspnea, Cough, Abnormal crani... ORPHA:1546
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Brain atrophy, Optic atrophy, Respiratory distress, Macroglossia, Recurrent ... OMIM:617303
Acquired Methemoglobinemia
Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Chediak-Higashi Syndrome
Gait disturbance, Ataxia, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Neurode... OMIM:214500
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Flexion contracture, Respiratory distress, Optic atrophy OMIM:619383
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Respiratory distress, Recurrent pneumonia, Cerebral atrophy, Cerebellar atrophy OMIM:616271
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Flexion contracture, Rhabdomyolysis, Respiratory ... ORPHA:17
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Abnormal cranial nerve morphology, Respiratory distress ORPHA:990
Choanal Atresia
Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway obstruction... ORPHA:137914
Nasolacrimal Duct Cyst
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory... ORPHA:141083
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... ORPHA:348
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Tetrasomy 5P
Pulmonary arterial hypertension, Failure to thrive, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:3309
Biotinidase Deficiency
Optic atrophy, Respiratory distress, Apnea, Optic neuropathy, Limb muscle weakness, Hyperventilation ORPHA:79241
Chitayat Syndrome
Tracheomalacia, Respiratory distress OMIM:617180
Mucopolysaccharidosis, Type Vii
Flexion contracture, Macroglossia, Airway obstruction, Loud snoring, Obstructive sleep apnea, Neu... OMIM:253220
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Respiratory distress OMIM:251000
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Gaucher Disease, Perinatal Lethal
Decreased body weight, Respiratory distress, Apnea, Neonatal death, Arthrogryposis multiplex cong... OMIM:608013
Mogs-Cdg
Hypoventilation, Optic atrophy, Absent brainstem auditory responses, Left ventricular hypertrophy... ORPHA:79330
Japanese Encephalitis
Respiratory paralysis, Irregular respiration, Decreased motor nerve conduction velocity, Paucity ... ORPHA:79139
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Respiratory distress ORPHA:50810
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Respiratory distress, Central apnea, Respiratory failure, Neonat... OMIM:616482
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Optic atrophy, Respiratory distress, Failure... ORPHA:79282
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Large for gestational age, Respiratory distress, Macroglossia, D... ORPHA:363705
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia, Respiratory distress OMIM:606164
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Intercostal retractions, Crackles, Recurrent pneumonia, Failu... ORPHA:1329
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Flexion contracture, Brain atrophy, Optic atrophy, Respiratory d... ORPHA:505248
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... ORPHA:555874
Shwachman-Diamond Syndrome 1
Small for gestational age, Respiratory distress, Failure to thrive, Myocardial necrosis, Neonatal... OMIM:260400
Mgat2-Cdg
Brain atrophy, Failure to thrive, Respiratory distress ORPHA:79329
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Apnea, Failure to thrive, Dyspnea, Ragged-red muscle fibers, Hyperventilation, Epi... ORPHA:255210
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Kniest Dysplasia
Tracheomalacia, Hip contracture, Respiratory distress OMIM:156550
Ramos-Arroyo Syndrome
Decreased body weight, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Respi... ORPHA:1051
Pachyonychia Congenita
Failure to thrive, Respiratory distress ORPHA:2309
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Asthma, Respiratory distress, Recurrent pneumonia, Failure to th... ORPHA:209905
Agnathia-Otocephaly Complex
Tracheomalacia, Respiratory distress OMIM:202650
Hurler Syndrome
Flexion contracture, Neurodegeneration, Macroglossia, Short stature OMIM:607014
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Respiratory distress OMIM:612852
Alternating Hemiplegia Of Childhood
Aspiration, Abnormal autonomic nervous system physiology, Respiratory distress, Apnea, Failure to... ORPHA:2131
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy, Dyspnea, Respiratory distress OMIM:115197
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth OMIM:151210
Diaphanospondylodysostosis
Respiratory insufficiency, Tracheomalacia, Respiratory distress OMIM:608022
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Respiratory distress OMIM:251110
Radio-Renal Syndrome
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure ORPHA:3015
Sepsis In Premature Infants
Decreased body weight, Small for gestational age, Nasal flaring, Abnormal respiratory system phys... ORPHA:90051
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Respiratory distress OMIM:231680
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Respiratory distress OMIM:251100
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Optic atrophy ORPHA:1555
Esophageal Atresia
Aspiration, Small for gestational age, Respiratory distress, Chronic pulmonary obstruction, Laryn... ORPHA:1199
Auriculocondylar Syndrome
Snoring, Obstructive sleep apnea, Respiratory distress ORPHA:137888
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Respiratory distress ORPHA:438216
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Pneumonia, Tachypnea ORPHA:36234
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Peripapillary atrophy, Repeated pneumothoraces, Multiple joint contrac... ORPHA:536467
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Skeletal muscle atroph... OMIM:256810
Nocardiosis
Pneumothorax, Productive cough, Weight loss, Respiratory distress, Emphysema, Pleural effusion, D... ORPHA:31204
Congenital Enterovirus Infection
Pleural effusion, Respiratory distress ORPHA:292
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Tracheomalacia, Respiratory distress OMIM:217980
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Respiratory distress, Morgagni diaphragmatic hernia OMIM:613309
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Cachexia, Respiratory distress, Myositis, Pneumonia, Failure to thrive ... ORPHA:37042
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress ORPHA:2519
Congenital Disorder Of Deglycosylation 1
Decreased body weight, Central sleep apnea, Respiratory distress, Decreased sensory nerve conduct... OMIM:615273
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Asthma, Respiratory distress, Pleural effusion, Failure to thrive, Dyspnea, C... ORPHA:3260
Cocaine Intoxication
Pneumothorax, Rhabdomyolysis, Wheezing, Respiratory distress, Cough, Hyperventilation, Tachypnea ORPHA:90068
Meier-Gorlin Syndrome 1
Flexion contracture, Joint contracture of the hand, Small for gestational age, Camptodactyly, Res... OMIM:224690
Q Fever
Weight loss, Respiratory distress, Pleural effusion, Cough, Pneumonia ORPHA:781
Prader-Willi Syndrome Due To Translocation
Obesity, Cerebral cortical atrophy, Respiratory distress ORPHA:177907
Rodrigues Blindness
Nasal flaring OMIM:268320
Lymphatic Malformation 7
Pleural effusion, Respiratory distress, Chylothorax OMIM:617300
Adnp Syndrome
Truncal obesity, Respiratory distress, Cerebral atrophy, Aspiration ORPHA:404448
Nijmegen Breakage Syndrome
Neurodegeneration, Intrauterine growth retardation, Short stature, Rhabdomyosarcoma OMIM:251260
Hereditary Angioedema Type 1
Dyspnea, Inspiratory stridor, Respiratory distress ORPHA:100050
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Optic atrophy OMIM:123790
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Cough, Respiratory distress, Weight loss ORPHA:537
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Macroglossia, Pleural effusion, Apnea, Myopathy OMIM:261740
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Respiratory failure, Dyspnea, Respiratory distress ORPHA:3342
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Hemorrhagic Fever-Renal Syndrome
Decreased body weight, Respiratory distress, Pleural effusion, Epistaxis, Dyspnea, Cough, Respira... ORPHA:340
Lujo Hemorrhagic Fever
Crackles, Rhinitis, Nonproductive cough, Respiratory distress ORPHA:319213
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Decreased body weight, Tip-toe gait, Falls, Peripheral demyelination, Torticollis, Neurofibromas,... OMIM:619475
Scimitar Syndrome
Pulmonary arterial hypertension, Pneumothorax, Hypoplasia of the diaphragm, Respiratory distress,... ORPHA:185
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Knee flexion contracture, Flexion contracture, Asthma, Abnormal autonomi... ORPHA:3206
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Chronic lung disease, Respiratory distress OMIM:613848
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Respiratory distress, Failure to thrive, Dyspnea, Respiratory failure ORPHA:2554
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Brain atrophy, Respiratory distress, Diffuse cerebral atrophy, Failure to thrive, Contracture of ... ORPHA:83617
Achondroplasia
Upper airway obstruction, Respiratory distress OMIM:100800
Ethylene Glycol Poisoning
Facial palsy, Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea ORPHA:31826
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Aganglionic megacolon, Respiratory distress ORPHA:210122
Pfeiffer Syndrome Type 2
Tracheomalacia, Respiratory distress ORPHA:93259
Pfeiffer Syndrome Type 3
Tracheomalacia, Respiratory distress ORPHA:93260
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Arboleda-Tham Syndrome
Upper limb amyotrophy, Optic atrophy, Recurrent aspiration pneumonia, Respiratory distress, Neona... OMIM:616268
Schinzel-Giedion Syndrome
Cerebral cortical atrophy, Aganglionic megacolon, Camptodactyly, Respiratory distress, Macrogloss... ORPHA:798
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Respiratory distress OMIM:617156
Campomelic Dysplasia
Tracheobronchomalacia, Respiratory distress, Apnea, Failure to thrive, Contracture of the distal ... OMIM:114290
Osteoglophonic Dysplasia
Failure to thrive, Respiratory distress OMIM:166250
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Respiratory distress, Failure to thrive, Dyspnea, Stridor, Respiratory failure, Pne... ORPHA:79404
Colchicine Poisoning
Cardiorespiratory arrest, Respiratory distress ORPHA:31824
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Failure to thrive, Congenital diaphragmatic hernia, Dyspnea, Respiratory fa... ORPHA:2556
Listeriosis
Respiratory failure, Pneumonia, Respiratory distress, Rhabdomyolysis ORPHA:533
Congenital Tracheal Stenosis
Respiratory distress, Upper airway obstruction, Dyspnea, Neonatal asphyxia, Wheezing ORPHA:141127
Coccidioidomycosis
Pleural empyema, Exudative pleural effusion, Respiratory distress, Cough, Pneumonia ORPHA:228123
Rubinstein-Taybi Syndrome 1
Flexion contracture, Small for gestational age, Respiratory distress, Failure to thrive, Truncal ... OMIM:180849
Leptospirosis
Rhabdomyolysis, Respiratory distress, Pleural effusion, Cough, Papilledema ORPHA:509
Gitelman Syndrome
Rhabdomyolysis, Failure to thrive, Respiratory distress ORPHA:358
Aortic Arch Interruption
Left ventricular hypertrophy, Exertional dyspnea, Tachypnea, Respiratory distress ORPHA:2299
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Respiratory distress, Pheochromocytoma, Carcinoid tumor, Respiratory ... ORPHA:805
8Q24.3 Microdeletion Syndrome
Small for gestational age, Global brain atrophy, Respiratory distress, Optic nerve hypoplasia ORPHA:508488
Isolated Arrhinia
Respiratory distress ORPHA:1134
Kasabach-Merritt Syndrome
Hypopnea, Respiratory distress ORPHA:2330
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Obesity ORPHA:466943
Primrose Syndrome
Knee flexion contracture, Flexion contracture, Hip contracture, Short stature, Ataxia, Delayed pu... OMIM:259050
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Small for gestational age, Failure to thrive, Congenital diaphragmatic hernia, Respiratory distress ORPHA:2255
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Respiratory distress OMIM:305100
Cleidocranial Dysplasia 1
Neonatal respiratory distress, Respiratory distress OMIM:119600
Heterotaxy, Visceral, 1, X-Linked
Failure to thrive, Respiratory distress OMIM:306955
Eisenmenger Syndrome
Pulmonary arterial hypertension, Exertional dyspnea, Hypoxemia, Respiratory distress, Increased p... ORPHA:97214
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Brain atrophy, Respiratory distress ORPHA:480880
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Rhinitis, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Chroni... ORPHA:95455
Doors Syndrome
Aspiration pneumonia, Respiratory distress, Optic atrophy ORPHA:79500
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Neonatal respiratory distress, Respiratory distress, Respiratory acidosis OMIM:614748
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Myocardial calcification, Failure to thrive in infancy, Respirat... ORPHA:51608
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary arterial hypertension, Exertional dyspnea, Apneic episodes in infancy, Respiratory dist... ORPHA:99125
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Multiple joint contractures, Failure to thrive, Respiratory distress ORPHA:99646
Ulbright-Hodes Syndrome
Respiratory failure, Pneumothorax, Respiratory distress ORPHA:3404
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
Alström Syndrome
Pulmonary arterial hypertension, Optic disc pallor, Recurrent sinusitis, Chronic pulmonary obstru... ORPHA:64
Pmm2-Cdg
Failure to thrive, Multiple joint contractures, Aspiration pneumonia, Respiratory distress ORPHA:79318

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 Nemf

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 Nemf.

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

Title Journal IMPC Allele PubMed ID
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Nemftm1b(EUCOMM)Hmgu PMC5503261

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MGI Allele Allele Type Produced
Nemftm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Nemftm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Nemftm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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