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
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
preweaning lethality, complete penetrance Nemftm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased heart weight Nemftm1b(EUCOMM)Hmgu HET   Early adult 7.29×10-06

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 0.68% (4 of 587)
aorta 0.17% (1 of 592)
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
epididymis 14.48% (21 of 145)
esophagus 1.69% (7 of 414)
eye 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
peripheral nervous system 0.34% (2 of 588)
peyers patch 0.0%
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
submandibular gland 1.39% (2 of 144)
testis 1.02% (6 of 590)
thalamus 0.0%
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
urinary bladder 0.0%
uterus 0.34% (2 of 589)
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 1.69% (1 of 59)
brain 1.25% (6 of 479)
ear 0.21% (1 of 469)
embryo 0.43% (2 of 469)
eye 0.21% (1 of 473)
footplate 0.21% (1 of 472)
forebrain 0.22% (1 of 465)
forelimb 0.21% (1 of 472)
handplate 0.21% (1 of 479)
head 0.84% (4 of 475)
heart 0.21% (1 of 467)
hindbrain 1.04% (5 of 479)
hindlimb 0.21% (1 of 477)
liver 0.21% (1 of 478)
lung 0.21% (1 of 467)
mandibular process 0.21% (1 of 469)
maxillary process 0.21% (1 of 477)
midbrain 0.21% (1 of 468)
oral cavity 0.21% (1 of 470)
rib pre-cartilage condensation 1.85% (1 of 54)
skeleton 1.33% (1 of 75)
skin 0.21% (1 of 474)
tail 0.21% (1 of 474)
tail somite group 0.21% (1 of 483)

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

8 Images

Adult LacZ

LacZ Images Section

32 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Slit Lamp

2 Images

MicroCT E18.5

Embryo reconstruction

6 Images

Sleep Wake

Wake state (bmp file)

6 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
Respiratory distress, Peripheral axonal neuropathy, Distal amyotrophy OMIM:619099
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy ORPHA:88616

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, Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amy... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... OMIM:614436
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Foot dorsiflexor weakness, Steppage gait, Axonal degeneration OMIM:616155
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... OMIM:606482
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventr... OMIM:620011
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... OMIM:214400
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... OMIM:602433
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... OMIM:618138
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Axonal degeneration, Weakness of facial musculature, Hand muscle atrophy, Fall... OMIM:618811
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Small for gestationa... OMIM:604320
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Hand muscle weakness, Dysmetria, Axonal degeneration, Tip-toe gait, Onion bulb formation, Decreas... OMIM:302800
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance, Decreased number of p... OMIM:604484
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Axonal degeneration, Peripheral axonal neuropathy, Decreased... OMIM:615490
Ethanolaminosis
Cardiomegaly OMIM:227150
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Cerebral atrophy, Dysmetria, Axonal degeneration, Dysdiadochokinesis, Neurodegeneration, ... OMIM:615157
Amyotrophy, Hereditary Neuralgic
Short stature, Axonal degeneration, Peripheral axonal degeneration, Brachial plexus neuropathy, S... OMIM:162100
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Diaminopentanuria
Ataxia, Neurodegeneration OMIM:222350
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Short stature, Decreas... OMIM:604168
Ceroid Lipofuscinosis, Neuronal, 7
Ataxia, Cerebral atrophy, Neurodegeneration, Optic atrophy, Cerebellar atrophy OMIM:610951
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... OMIM:208920
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Proxima... OMIM:608030
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Cerebellar atrophy OMIM:615889
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight, Ty... OMIM:300580
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Hepatomegaly OMIM:615158
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Peripheral axonal neuropathy, Distal amyotrophy OMIM:619099
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Neurodegeneration, Distal amyotrophy, Gait disturbance, Motor axonal neuropathy OMIM:615643
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Short stature, Neurodegeneration, Gait ataxia, Cerebellar atroph... ORPHA:438134
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Orthostatic hypotension, Decreased number of peripheral myelinated nerve fibers, Peripheral axona... OMIM:608720
Myopathy And Diabetes Mellitus
Respiratory distress, Weakness of facial musculature, Pelvic girdle muscle weakness, Peripheral a... ORPHA:2596
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Muscle fiber necrosis, EMG: myopathic abnormalities, Dia... OMIM:614399
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... ORPHA:238329
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Neurodegeneration, Ce... OMIM:617672
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Reduced vital capacity, Internally nucleated skeletal muscle fibers,... ORPHA:178464
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Abnormal muscle fiber morphology, Weakness of facial muscu... ORPHA:1145
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Small for gestational age, Abno... ORPHA:70589
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Flexion contracture of finger, Axonal degeneration, Camptodactyly, Gait disturbance, Gait... ORPHA:88628
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Loss of ambulation 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
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... OMIM:271150
Perching Syndrome
Respiratory distress, Flexion contracture, Camptodactyly OMIM:617055
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:612577
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... OMIM:605809
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Atrophy/Degeneration affecting the brai... OMIM:612319
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Neuronal loss in central nervous system OMIM:604377
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Axona... ORPHA:478029
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, I... ORPHA:86812
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... OMIM:254210
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Loss of ambulation, Hand muscle weakness, Intrinsic hand muscle atroph... ORPHA:101097
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... ORPHA:254875
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Respiratory distress, Myopathy ORPHA:26792
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Impaired gluconeogenesis OMIM:261650
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Combined Oxidative Phosphorylation Deficiency 29
Optic neuropathy, Axonal degeneration, Optic atrophy, Cerebellar atrophy, Global brain atrophy OMIM:616811
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive, Cerebral atrophy, Cerebellar atrophy OMIM:618426
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Stt3B-Cdg
Optic atrophy, Failure to thrive, Respiratory distress, Cerebellar atrophy ORPHA:370924
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal autonomic nervous system physio... OMIM:300894
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... ORPHA:254864
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive, Cerebral cortical atrophy, Flexion contracture OMIM:618201
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Myopathy ORPHA:91130
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Failure to thrive, Respiratory distress, Cerebellar atrophy OMIM:615597
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration ... OMIM:271225
Spastic Paraplegia 79, Autosomal Recessive
Ataxia, Cerebral atrophy, Dysmetria, Flexion contracture, Neurodegeneration, Optic atrophy, Cereb... OMIM:615491
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Abnormal respiratory system physiology, Neurodegeneration, Motor n... ORPHA:803
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology, W... ORPHA:50251
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Decrease... OMIM:603511
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... ORPHA:264675
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Left ventricular noncompaction OMIM:613642
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Cough, Tachypnea, Intercostal retractions, Reduced force... ORPHA:91359
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Flexion contracture, Lower limb... ORPHA:1143
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Cough, Tachypnea, Respiratory failure OMIM:263000
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Decreased nerve conduction vel... OMIM:256600
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Adrenomyeloneuropathy
Axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Abnormality of cent... ORPHA:139399
Krabbe Disease
Failure to thrive, Decreased nerve conduction velocity, Neurodegeneration, Optic atrophy, Diffuse... OMIM:245200
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
De Sanctis-Cacchione Syndrome
Ataxia, Severe short stature, Cerebral atrophy, Axonal degeneration, Optic atrophy, Choreoathetos... OMIM:278800
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Flexion contracture, Short stature, Neurodegeneration, Unsteady gait, Cerebellar atrophy OMIM:615919
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Failure to thrive, Cerebral cortical atrophy, Cerebral atrophy, Corpus call... OMIM:619272
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough ORPHA:77260
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Camptodactyly, Pulmonary arterial hypertension, Stillbirth OMIM:619751
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Small for gestational age, Left ventricular hypertroph... OMIM:616733
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Succinic Acidemia
Respiratory distress OMIM:600335
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Loss of ambulation, Neuronal loss in central nervous system, Dista... OMIM:608627
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Axonal loss OMIM:300857
Anaplastic Thyroid Carcinoma
Respiratory distress, Abnormal skeletal muscle morphology, Cough, Upper airway obstruction, Dyspn... ORPHA:142
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Pontocerebellar atrophy, Muscular dystrophy, Camptodacty... OMIM:608799
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Optic atrophy, Cerebellar atrophy, Frontotemporal cerebral atrophy ORPHA:79097
Glycogen Storage Disease Vi
Hypoglycemia, Hepatomegaly OMIM:232700
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... ORPHA:596
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Neurodegeneration With Brain Iron Accumulation 4
Ataxia, Loss of ambulation, Neurodegeneration, Distal amyotrophy, Optic atrophy, Abnormal lower m... OMIM:614298
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Neurodegeneration, Optic atrophy, Cerebellar atrophy, Fa... OMIM:616239
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Brain atrophy, Flexion contracture, Small for gestational age, Joint contractu... OMIM:214150
Oculopharyngodistal Myopathy 1
Respiratory distress, Brain atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased var... OMIM:164310
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Propionic Acidemia
Hypoglycemia, Hepatomegaly, Cardiomyopathy ORPHA:35
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Congenital contracture, Respiratory distress, Neonatal respiratory distress OMIM:615042
Congenital Diaphragmatic Hernia
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... ORPHA:2140
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Hand muscle atrophy, Cranial nerve motor loss, N... OMIM:211530
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Failure to thrive, Hypoxemia, Respiratory insufficiency, Interstitial pneum... OMIM:610913
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Hand muscle weakness, Decreased size of nerve terminals, Right... ORPHA:98915
Cerebrotendinous Xanthomatosis
Optic neuropathy, Ataxia, Decreased nerve conduction velocity, Axonal degeneration, Tendon xantho... ORPHA:909
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Failure to thrive, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Neon... OMIM:610921
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Splenomegaly ORPHA:664
Gm2 Gangliosidosis, Ab Variant
Postnatal growth retardation, Cerebral atrophy, Neurodegeneration, Short stature ORPHA:309246
Multiple Carboxylase Deficiency
Optic atrophy, Limb muscle weakness, Respiratory distress, Tachypnea ORPHA:148
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Abnormal neuron branching, Failure to thrive, Respiratory distr... ORPHA:367
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Myotonic Dystrophy 1
Facial diplegia, Respiratory distress, Cerebral atrophy OMIM:160900
Hsd10 Disease, Infantile Type
Loss of ambulation, Cerebral atrophy, Neurodegeneration, Optic atrophy, Diffuse cerebral atrophy,... ORPHA:391428
Triosephosphate Isomerase Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness, Cerebr... OMIM:615512
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Cerebellar atrophy ORPHA:37612
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Respiratory distress, Tachypnea ORPHA:45452
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Nonproductive cough, Decreased ... ORPHA:79127
Spinocerebellar Ataxia, X-Linked 3
Neuronal loss in central nervous system, Episodic respiratory distress, Episodic hypoventilation,... OMIM:301790
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Muscle fiber necrosis, Decreased nerve conduction velocity, Peripheral hypo... OMIM:618733
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Hypoglycemia, Impaired gluconeogenesis, Recurrent hypog... OMIM:212140
Malaria
Respiratory distress ORPHA:673
Pyruvate Dehydrogenase E2 Deficiency
Broad-based gait, Difficulty walking, Neurodegeneration, Gait disturbance ORPHA:79244
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive, Flexion contracture, Cerebellar atrophy ORPHA:544503
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Failure to thrive, Respiratory distress ORPHA:79312
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Choreoathetosis, Neurodegeneration, Hypomimic face OMIM:606159
Kanzaki Disease
Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration OMIM:609242
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... OMIM:262190
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Rhabdomyolysis, Pneumothorax, Produc... ORPHA:454836
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Adrenoleukodystrophy
Lower limb muscle weakness, Truncal ataxia, Neurodegeneration, Limb ataxia OMIM:300100
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Ataxia, Neurodegeneration OMIM:618476
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Cerebellar atrophy ORPHA:89844
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Decreased nerve conduction velocity, Cachexia, Optic atr... ORPHA:206436
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Failure to thrive, Weakness of facial musculature, Optic atrophy, Increased... OMIM:220110
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Cardiomegaly OMIM:618838
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Multiple System Atrophy 1, Susceptibility To
Ataxia, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Neurodegeneration,... OMIM:146500
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Optic atrophy, Gait ataxia, C... OMIM:610217
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Brain atrophy, Aspiration pneumonia, Recurrent pneumonia, Hypoventil... ORPHA:314655
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Cerebral atrophy, Acute rhabdomyolysis, Neurodegeneration, Optic atrophy, Gait disturbanc... OMIM:616878
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Congenital Myasthenic Syndrome
Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Muscle fiber atrophy, Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EMG... ORPHA:98914
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... OMIM:610978
Cerebral Visual Impairment
Increased cup-to-disc ratio, Optic nerve hypoplasia, Neurodegeneration, Optic atrophy, Optic disc... ORPHA:447788
Mucopolysaccharidosis, Type Ii
Asthma, Airway obstruction, Sleep apnea, Macroglossia, Flexion contracture, Papilledema, Neurodeg... OMIM:309900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Respiratory distress ORPHA:289916
Glycogen Storage Disease Ixa1
Hypoglycemia, Hepatomegaly, Splenomegaly OMIM:306000
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Failure to thrive, Apnea, Central hypoventilation, Optic atrophy, Respirato... ORPHA:70474
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Optic atrophy, Dyspnea, Respiratory failure ORPHA:2707
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, Failure to thrive, Contractures of the large joints, Respiratory distress ORPHA:329178
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Centrally nucleated skeletal muscle fibers, Neonatal death, Myopathy OMIM:300219
Primary Dystonia, Dyt4 Type
Torticollis, Respiratory distress, Eunuchoid habitus ORPHA:98805
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Aspiration OMIM:272750
Holocarboxylase Synthetase Deficiency
Respiratory distress, Weight loss, Tachypnea ORPHA:79242
Oromandibular Dystonia
Torticollis, Weight loss, Respiratory distress ORPHA:93958
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Moebius Syndrome
Facial diplegia, Respiratory distress, Congenital fibrosis of extraocular muscles, Camptodactyly,... OMIM:157900
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Decreased muscle mass, Neurodegeneration, Optic atrophy, Gait disturbance, Chor... OMIM:234200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Failure to thrive, Macroglossia, Left ventricular hypertrophy, Respiratory ... ORPHA:308552
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress, Macroglossia ORPHA:226313
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Small for gestational age, Exercise-induced rhabdomyoly... ORPHA:26793
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia ORPHA:238459
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Failure to thrive, Respiratory distress, Sleep a... ORPHA:365
Tetanus
Autonomic bladder dysfunction, Respiratory distress, Abnormal autonomic nervous system physiology... ORPHA:3299
Farber Disease
Respiratory distress, Failure to thrive, Brain atrophy, Flexion contracture, Respiratory insuffic... ORPHA:333
Congenital Tracheomalacia
Failure to thrive, Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficien... ORPHA:95430
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Glycogen Storage Disease Ixc
Hypoglycemia, Hepatomegaly, Fasting hypoglycemia, Splenomegaly OMIM:613027
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Brain atrophy, Macroglossia, Flexion contracture, Optic atrophy, Recurrent ... OMIM:617303
Surfactant Metabolism Dysfunction, Pulmonary, 1
Failure to thrive, Apnea, Neonatal death, Tachypnea, Neonatal respiratory distress, Dyspnea, Pulm... OMIM:265120
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Ataxia, Cerebral atrophy, Left ventricular hypertrophy, Neurodegeneration, Gait ataxia OMIM:618321
Cryptococcosis
Respiratory distress, Cerebral cortical atrophy, Cough, Abnormal cranial nerve morphology, Limb m... ORPHA:1546
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Chediak-Higashi Syndrome
Ataxia, Decreased nerve conduction velocity, Neurodegeneration, Foot dorsiflexor weakness, Gait d... OMIM:214500
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Optic atrophy, Respiratory distress, Flexion contracture OMIM:619383
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Abnormal cranial nerve morphology ORPHA:990
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Cerebral atrophy, Flexion contracture, Recurrent pneumonia, Cerebellar atrophy OMIM:616271
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
Choanal Atresia
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... ORPHA:137914
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Failure to thrive, Apnea, Cerebral atrophy, Flexion contracture, Increased ... ORPHA:17
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Biotinidase Deficiency
Respiratory distress, Optic neuropathy, Apnea, Optic atrophy, Limb muscle weakness, Hyperventilation ORPHA:79241
Mucopolysaccharidosis, Type Vii
Airway obstruction, Macroglossia, Flexion contracture, Neurodegeneration, Loud snoring, Obstructi... OMIM:253220
Tetrasomy 5P
Respiratory distress, Failure to thrive, Aplasia/Hypoplasia of the abdominal wall musculature, Pu... ORPHA:3309
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive OMIM:251000
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Neonatal death, Arthrogryposis multiplex cong... OMIM:608013
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Japanese Encephalitis
Respiratory distress, Irregular respiration, Paucity of anterior horn motor neurons, Respiratory ... ORPHA:79139
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Failure to thrive, Cerebral atrophy, Pulmonary embolism, Optic atrophy, Atr... ORPHA:79282
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Brain atrophy, Macroglossia, Flexion contracture, Optic... ORPHA:505248
Complete Atrioventricular Septal Defect
Failure to thrive, Pulmonary venous hypertension, Right ventricular hypertrophy, Crackles, Elevat... ORPHA:1329
Craniofaciofrontodigital Syndrome
Respiratory distress, Macroglossia, Large for gestational age, Dyspnea, Pulmonary arterial hypert... ORPHA:363705
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Apnea, Left ventricular hypertrophy, O... ORPHA:79330
Mgat2-Cdg
Respiratory distress, Failure to thrive, Brain atrophy ORPHA:79329
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Failure to thrive, Episodic respiratory distress, Segmental peripheral demyelination/remye... ORPHA:255210
Shwachman-Diamond Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Myocardial necrosis, Neonatal... OMIM:260400
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Kniest Dysplasia
Respiratory distress, Hip contracture, Tracheomalacia OMIM:156550
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Abnormal autonomic nervous system physiology, Severe... ORPHA:1051
Brain-Lung-Thyroid Syndrome
Respiratory distress, Failure to thrive, Asthma, Recurrent pneumonia, Neonatal respiratory distre... ORPHA:209905
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive OMIM:251110
Hurler Syndrome
Macroglossia, Neurodegeneration, Flexion contracture, Short stature OMIM:607014
Alternating Hemiplegia Of Childhood
Respiratory distress, Failure to thrive, Apnea, Abnormal autonomic nervous system physiology, Asp... ORPHA:2131
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Tracheomalacia OMIM:608022
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy OMIM:612852
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive OMIM:251100
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Myopathy OMIM:115197
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death OMIM:231680
Sepsis In Premature Infants
Decreased body weight, Small for gestational age, Abnormal respiratory system physiology, Abnorma... ORPHA:90051
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Nijmegen Breakage Syndrome
Rhabdomyosarcoma, Intrauterine growth retardation, Neurodegeneration, Short stature OMIM:251260
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Respiratory distress ORPHA:1555
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Respiratory distress OMIM:123790
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Myositis, Tachypnea, Pneumonia ORPHA:36234
Nocardiosis
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... ORPHA:31204
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Diamond-Blackfan Anemia 10
Respiratory distress, Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:613309
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Intrinsic hand muscle atrophy, Decreased body weight, Decreased sensory ner... OMIM:615273
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Cachexia, Interstitial pneumonitis, Myositis, Pneumonia, Failure to thrive ... ORPHA:37042
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Cocaine Intoxication
Respiratory distress, Wheezing, Tachypnea, Rhabdomyolysis, Cough, Hyperventilation, Pneumothorax ORPHA:90068
Meier-Gorlin Syndrome 1
Respiratory distress, Failure to thrive, Joint contracture of the hand, Flexion contracture, Smal... OMIM:224690
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Torticollis, Multiple joint contractures, Respiratory distress, Tracheomalacia, Repeated pneumoth... ORPHA:536467
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Failure to thrive, Asthma, Pulmonary embolism, Cough, Pleural effusion, Dys... ORPHA:3260
Q Fever
Respiratory distress, Cough, Pleural effusion, Pneumonia, Weight loss ORPHA:781
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Facial hypotonia ORPHA:438216
Adnp Syndrome
Respiratory distress, Cerebral atrophy, Truncal obesity, Aspiration ORPHA:404448
Rodrigues Blindness
Nasal flaring OMIM:268320
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Obesity, Cerebral cortical atrophy ORPHA:177907
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Decreased body weight, Cough, Respiratory failure, Pneumonia, Pleural effus... ORPHA:340
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Flexion contracture of finger, Flexion contracture, Abnormal... ORPHA:3206
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Failure to thrive, Brain atrophy, Contracture of the distal interphalangeal... ORPHA:83617
Toxic Epidermal Necrolysis
Respiratory distress, Weight loss, Restrictive ventilatory defect, Cough ORPHA:537
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure ORPHA:3342
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad-based gait, Failure to thrive, Ataxia, Decreased body weight, Intrauterine growth retardati... OMIM:619475
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Facial palsy, Episodic respiratory distress, Tachypnea ORPHA:31826
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death OMIM:266910
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon ORPHA:210122
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Rhinitis ORPHA:319213
Ear-Patella-Short Stature Syndrome
Respiratory distress, Failure to thrive, Camptodactyly of finger, Dyspnea, Respiratory failure ORPHA:2554
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Scimitar Syndrome
Respiratory distress, Hypoplasia of the diaphragm, Cough, Abnormal hemidiaphragm morphology, Pneu... ORPHA:185
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress OMIM:300968
Schinzel-Giedion Syndrome
Respiratory distress, Cerebral cortical atrophy, Macroglossia, Failure to thrive in infancy, Camp... ORPHA:798
Arboleda-Tham Syndrome
Respiratory distress, Lower limb amyotrophy, Neonatal respiratory distress, Optic atrophy, Recurr... OMIM:616268
Campomelic Dysplasia
Respiratory distress, Failure to thrive, Apnea, Tracheomalacia, Contracture of the distal interph... OMIM:114290
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Failure to thrive, Stridor, Pneumonia, Pneumothorax, Dyspnea, Respiratory f... ORPHA:79404
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Failure to thrive, Congenital diaphragmatic hernia, Dyspnea, Respiratory fa... ORPHA:2556
Listeriosis
Respiratory distress, Rhabdomyolysis, Respiratory failure, Pneumonia ORPHA:533
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Upper airway obstruction, Dyspnea ORPHA:141127
Coccidioidomycosis
Respiratory distress, Pleural empyema, Cough, Pneumonia, Exudative pleural effusion ORPHA:228123
Rubinstein-Taybi Syndrome 1
Respiratory distress, Failure to thrive, Flexion contracture, Small for gestational age, Truncal ... OMIM:180849
Leptospirosis
Respiratory distress, Papilledema, Cough, Rhabdomyolysis, Pleural effusion ORPHA:509
Gitelman Syndrome
Rhabdomyolysis, Failure to thrive, Respiratory distress ORPHA:358
Aortic Arch Interruption
Respiratory distress, Left ventricular hypertrophy, Exertional dyspnea, Tachypnea ORPHA:2299
Tuberous Sclerosis Complex
Respiratory distress, Carcinoid tumor, Pheochromocytoma, Pancreatic endocrine tumor, Respiratory ... ORPHA:805
Isolated Arrhinia
Respiratory distress ORPHA:1134
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Asthma, Nasal flaring ORPHA:466943
Primrose Syndrome
Hip contracture, Ataxia, Flexion contracture, Short stature, Neurodegeneration, Truncal obesity, ... OMIM:259050
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Failure to thrive, Congenital diaphragmatic hernia, Small for gestational age ORPHA:2255
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Failure to thrive OMIM:306955
Eisenmenger Syndrome
Respiratory distress, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hypertension, I... ORPHA:97214
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Brain atrophy ORPHA:480880
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Chronic lung disease, Respiratory failure requiring assisted ventilation, C... ORPHA:95455
Doors Syndrome
Optic atrophy, Aspiration pneumonia, Respiratory distress ORPHA:79500
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Neonatal respiratory distress OMIM:614748
8Q24.3 Microdeletion Syndrome
Respiratory distress, Optic nerve hypoplasia, Global brain atrophy, Small for gestational age ORPHA:508488
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Myocardial calcification, Failure to thriv... ORPHA:51608
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failure requiri... ORPHA:99125
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Failure to thrive, Multiple joint contractures, Recurrent pneumonia ORPHA:99646
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure ORPHA:3404
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
Alström Syndrome
Respiratory distress, Chronic pulmonary obstruction, Truncal obesity, Recurrent sinusitis, Optic ... ORPHA:64
Pmm2-Cdg
Aspiration pneumonia, Failure to thrive, Multiple joint contractures, Respiratory distress ORPHA:79318
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy ORPHA:88616

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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