Gene: Dach1 MGI:1277991

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Gene Summary

Name:
dachshund family transcription factor 1
Synonyms:
Dac,  E130112M23Rik

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
preweaning lethality, complete penetrance Dach1tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating alanine transaminase level Dach1tm1b(KOMP)Wtsi HET Early adult 3.63×10-14
increased circulating chloride level Dach1tm1b(KOMP)Wtsi HET Early adult 4.60×10-07
increased startle reflex Dach1tm1b(KOMP)Wtsi HET Early adult 3.49×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote Ambiguous
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 0.0% (0 of 2)
Hippocampus  Section images heterozygote Ambiguous
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote Ambiguous
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 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)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Liver 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)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A homozygote Ambiguous
N/A heterozygote Ambiguous
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
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 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

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 Forepaw

11 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Adult LacZ

LacZ Images Section

24 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Eye Morphology

Images Slit Lamp

2 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Dach1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dach1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Laryngotracheoesophageal Cleft
Choking episodes, Dyspnea, Cough, Neonatal respiratory distress, Impaired oropharyngeal swallow r... ORPHA:2004
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Tracheopathia Osteoplastica
Cough, Wheezing, Dyspnea, Recurrent pneumonia OMIM:189961
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cough, Respiratory failure, Tachypnea, Cyanosis OMIM:263000
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis, Stridor OMIM:150260
Perching Syndrome
Dysphagia, Respiratory distress OMIM:617055
Thyroid Lymphoma
Dyspnea, Respiratory distress, Goiter, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Upper ai... ORPHA:97285
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Recurrent Respiratory Papillomatosis
Choking episodes, Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respir... ORPHA:60032
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:254210
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Cough, Abnormal pattern of respiration, Hepatomegaly, Splenomegaly ORPHA:77260
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Succinic Acidemia
Respiratory distress OMIM:600335
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough, D... ORPHA:50251
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Dysphagia, Respiratory insufficiency, Respi... OMIM:614399
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Respiratory distress OMIM:615595
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:605809
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Choanal Atresia
Choking episodes, Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper air... ORPHA:137914
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Hepatomegaly, Splen... ORPHA:2414
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Hypoxemia, Neo... OMIM:610921
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis OMIM:610910
Asbestos Intoxication
Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dyspnea, Late inspirator... ORPHA:2302
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Tachypnea, Hypoxemia, Cyanosis ORPHA:70587
Breath-Holding Spells
Cyanosis OMIM:607578
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Dyspnea, Respiratory distress, Goiter, Dysphagia, Cough, Upper airw... ORPHA:142
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... OMIM:610913
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Wheezing, Chronic pulmonary obstruction, Dyspnea, Hepatocellular carcinoma, Panacinar ... OMIM:613490
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Respiratory failure, Tachypnea, Hyp... ORPHA:178320
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Dysphagia, Respiratory insuff... ORPHA:254875
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Compensated hypothyroidism, Restrictive ventilatory defect, Wheezing, Respiratory distress, Oxyge... OMIM:610978
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Respiratory distress ORPHA:26792
Bardet-Biedl Syndrome 16
Hypogonadism, Respiratory distress OMIM:615993
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hypoadrenocorticism, Familial
Adrenal insufficiency, Apnea, Cyanosis, Adrenal hypoplasia OMIM:240200
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Respiratory distress ORPHA:240085
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Cyanosis, Red... ORPHA:98913
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Acute Interstitial Pneumonia
Dyspnea, Bronchiectasis, Pleural effusion, Nonproductive cough, Crackles, Hypoxemia, Decreased DL... ORPHA:79126
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Neonatal respiratory dis... ORPHA:2257
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Respiratory distress OMIM:614741
Pulmonary Fibrosis, Idiopathic
Cirrhosis, Dyspnea, Exertional dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension OMIM:178500
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Cryptosporidiosis
Wheezing, Respiratory distress, Dysphagia, Cough, Biliary tract abnormality, Cholangitis, Respira... ORPHA:1549
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Decreased DLCO, Hypoxemia, Cyanosis ORPHA:747
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Pulmonary a... ORPHA:70588
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Respiratory distress, Decreased circulating T4 level, Elevated circulating thyroid-stimul... ORPHA:226313
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Buerger Disease
Acrocyanosis, Hyperhidrosis ORPHA:36258
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Cough, Dyspnea, Decreased DLCO OMIM:234810
Slc35A1-Cdg
Hypoxemia, Subcutaneous hemorrhage, Respiratory distress, Pneumonia ORPHA:238459
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Apnea, Cyanosis, Hepatic steatosis OMIM:261680
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Hypoglossia With Situs Inversus
Upper airway obstruction, Polysplenia, Asplenia, Respiratory distress OMIM:612776
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Respiratory distress, Pancreatitis ORPHA:289916
Myotonic Dystrophy 1
Respiratory distress, Dysphagia, Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress OMIM:615042
Congenital Myasthenic Syndrome
Respiratory arrest, Choking episodes, Episodic respiratory distress, Central sleep apnea, Sudden ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Choking episodes, Episodic respiratory distress, Central sleep apnea, Sudden ... ORPHA:98914
Primary Effusion Lymphoma
Pleural effusion, Abnormality of the peritoneum, Dyspnea ORPHA:48686
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Respiratory distress, Pancreatitis, Splenomegaly ORPHA:79312
Pulmonary Capillary Hemangiomatosis
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Hemothorax, Hy... ORPHA:199241
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Idiopathic Bronchiectasis
Wheezing, Dyspnea, Bronchiectasis, Decreased pulmonary function, Emphysema, Acute infectious pneu... ORPHA:60033
Malaria
Respiratory distress ORPHA:673
Myasthenia Gravis
Acrocyanosis, Dyspnea, Dysphagia, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyr... ORPHA:589
Pulmonary Arteriovenous Malformation
Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Liver abscess, Pulmonary arterial hyperte... ORPHA:2038
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Solar Urticaria
Wheezing, Dyspnea, Angioedema, Urticaria, Dermatographic urticaria ORPHA:97230
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Death in childhood, Respiratory distress OMIM:615597
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Chiari Malformation Type Ii
Dysphagia, Inspiratory stridor, Cyanosis OMIM:207950
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Pneumonia, Productiv... ORPHA:454836
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis OMIM:606763
Tricuspid Atresia
Cyanosis ORPHA:1209
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Dysphagia, Respiratory insufficiency, Stridor, Nocturnal hypoventi... OMIM:211530
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Restrictive ventilatory defect, Abnormality of the hepatic vasculature, Dy... ORPHA:210136
Idiopathic Neonatal Atrial Flutter
Tachypnea, Maternal diabetes, Respiratory distress ORPHA:45452
Intestinal Botulism
Dyspnea, Dysphagia, Death in infancy, Respiratory insufficiency due to muscle weakness ORPHA:178481
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen, Respiratory distress ORPHA:89844
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Splenomegaly, Telangiectasia, Respiratory distress OMIM:608799
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Hepatomegaly, Jaundice, Neonatal death, Hepatic periport... OMIM:231680
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis, Hyperhidrosis OMIM:252320
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Compensated hypothyroidism, Respiratory distress, Elevated circulatin... ORPHA:209905
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Hepatomegaly, Pulmonary venous hypertensi... ORPHA:1329
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Hepatomegaly, Jau... ORPHA:90051
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Respiratory insufficiency OMIM:245650
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Diabetic ketoaci... ORPHA:70578
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Respiratory failure, Tachypnea,... ORPHA:555874
Stt3B-Cdg
Cryptorchidism, Respiratory distress ORPHA:370924
Double Outlet Right Ventricle
Tachypnea, Cyanosis, Hypoparathyroidism, Aplasia/Hypoplasia of the thymus ORPHA:3426
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Decreased testicular size, Subcutaneous hemorrhage, Cy... ORPHA:335
Holocarboxylase Synthetase Deficiency
Desquamation of skin soon after birth, Tachypnea, Respiratory distress ORPHA:79242
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress ORPHA:86812
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism, Respiratory distress, Respiratory insufficiency ORPHA:1145
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Purpura, Hypothyroidism, Prolonged neonatal jaundice, Hepatomegaly, Petechiae, Sple... OMIM:225750
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Odontochondrodysplasia
Death in infancy, Respiratory distress ORPHA:166272
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Peritonitis, Purpura, Erythema, Hepatomegaly, Urticaria ORPHA:343
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Generalized abnormality of skin, Respiratory distress, Respiratory insufficiency, Hepa... ORPHA:367
Inhalational Anthrax
Abnormal sweat gland morphology, Dyspnea, Respiratory distress ORPHA:247257
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Hepatic steatosis, Episodic tachypnea, Hepatomegaly, Apneic episod... ORPHA:348
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pleural effusion, Emphysema, Hepatomegal... OMIM:612387
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Hereditary Angioedema Type 1
Dyspnea, Respiratory distress, Inspiratory stridor, Dysphagia, Urticaria, Dermatographic urticaria ORPHA:100050
Evans Syndrome
Dyspnea, Epistaxis, Jaundice, Petechiae, Bruising susceptibility ORPHA:1959
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Dysphagia, Episodic respiratory distress, Death in infancy OMIM:301790
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Primary adrenal insufficiency, Hy... ORPHA:2905
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Hypothyroidism, Hepatomegaly, Hyperhidrosis, Abnormality... ORPHA:349
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Cryptorchidism, Decreased testicular size, Pneumonia ORPHA:1867
Primary Dystonia, Dyt4 Type
Dysphagia, Respiratory distress ORPHA:98805
Gaucher Disease, Perinatal Lethal
Apnea, Respiratory distress, Purpura, Dysphagia, Desquamation of skin soon after birth, Hepatomeg... OMIM:608013
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Hypoventilation, Cardiorespiratory arrest, Polyphagia, Premature adrenarche, Polydi... ORPHA:293987
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Hsd10 Disease, Infantile Type
Dysphagia, Cyanosis ORPHA:391428
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Moebius Syndrome
Dysphagia, Decreased testicular size, Respiratory distress, Hypogonadotropic hypogonadism OMIM:157900
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Respiratory distress, Abnormal calcium-phosphate regulating hormone level ORPHA:50810
Arnold-Chiari Malformation Type Ii
Apnea, Dysphagia, Inspiratory stridor, Pneumonia, Cyanosis ORPHA:1136
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Dysphagia, Cough, Respiratory insufficiency, Cutis marmorata, Asthma, Sinu... ORPHA:183
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Tetanus
Dysphagia, Tachypnea, Respiratory distress ORPHA:3299
Oromandibular Dystonia
Dysphagia, Respiratory distress ORPHA:93958
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Respiratory distress, Congenital hypothyroidism, Pulmonary arterial hypertension,... ORPHA:2519
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Asplenia, Pulmonary arterial hypertension, Absent gallbladder, Annular panc... ORPHA:210122
Tularemia
Pleural effusion, Cough, Pneumonia, Respiratory distress ORPHA:3392
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Dysphagia, Respiratory in... ORPHA:98915
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Respiratory distress ORPHA:927
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Hypochloremia, Hypomagnesemia ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypochloremia, ... OMIM:241200
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Increased hepatocellular lipid droplets, Respiratory in... OMIM:220110
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Respiratory distress, Dysphagia, Cough, Erythema, Pancreatitis, P... ORPHA:537
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory distress, Macrovesicular hepatic steatosis, Respiratory insufficiency, Hepatom... OMIM:608836
Episodic Ataxia Type 1
Hyperhidrosis, Respiratory distress ORPHA:37612
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Pulmonary arterial hypertension, Tachy... ORPHA:99106
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Jaundice, Respiratory distress OMIM:274150
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Vasculitis in the skin, Cough, Dysphagia, Pulmon... ORPHA:3260
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Hepatomegaly, Jaundice, Tachypnea ORPHA:26793
Odontochondrodysplasia 1
Death in infancy, Respiratory distress OMIM:184260
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, Respiratory distress ORPHA:3309
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Atrial Septal Defect, Coronary Sinus Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Pneumonia, Pulmonary arteri... ORPHA:99104
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Cyanosis ORPHA:3304
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia ORPHA:314655
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Diaphanospondylodysostosis
Abnormal liver lobulation, Tracheomalacia, Respiratory distress, Respiratory insufficiency OMIM:608022
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Biliary atresia, Abdominal situs inversus, Polysplenia, Asplenia, Cyanosis OMIM:306955
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic cysts, Pancreatic cysts, Periportal fibrosis, Hepatomegaly, Neonatal death, Splenomegaly,... OMIM:263200
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Respiratory distress ORPHA:329178
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Respiratory distress, Macrovesicular hepatic steatosis, Hepatomegaly, Death ... OMIM:617303
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Kallmann Syndrome-Heart Disease Syndrome
Bilateral cryptorchidism, Delayed puberty, Hypogonadotropic hypogonadism, Decreased testicular si... ORPHA:2326
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Congenital Enterovirus Infection
Pleural effusion, Hepatitis, Respiratory distress, Cholestasis ORPHA:292
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neonatal respiratory distress, Respiratory distress, Exocrine pancreatic insufficiency OMIM:260400
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Dysphagia, Central hypoventilation, Respiratory failure ORPHA:70474
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Ethylene Glycol Poisoning
Tachypnea, Cyanosis, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Maternal diabetes, Respiratory distress, Neonatal death, Respiratory failure, Pne... OMIM:266910
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Cyanosis ORPHA:488627
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Q Fever
Respiratory distress, Purpura, Pleural effusion, Cough, Cholecystitis, Pneumonia, Hepatomegaly, H... ORPHA:781
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Abnormality of the pancreas, Respiratory distress ORPHA:1555
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Restrictive ventilatory defect, Cirrhosis, Dyspnea, Nail bed telangi... OMIM:187300
Congenital Tracheal Stenosis
Wheezing, Dyspnea, Respiratory distress, Upper airway obstruction, Neonatal asphyxia, Cyanosis ORPHA:141127
Dravet Syndrome
Cyanotic episode ORPHA:33069
Congenital Disorder Of Deglycosylation
Central sleep apnea, Respiratory distress, Oral-pharyngeal dysphagia, Hepatomegaly, Hyperhidrosis... OMIM:615273
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Respiratory distress OMIM:251110
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Respiratory distress, Splenomegaly OMIM:612852
Bacterial Toxic-Shock Syndrome
Peritonitis, Respiratory distress, Pneumonia, Hepatitis, Sinusitis, Tachypnea, Ecchymosis ORPHA:36234
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax ORPHA:3015
Cryptococcosis
Peritonitis, Prostatitis, Cirrhosis, Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneu... ORPHA:1546
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory distress, Exertional dyspnea, Dysphagia, Orthopnea, Respiratory insuffic... ORPHA:365
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Cryptorchidism, Respiratory distress, Tracheomalacia OMIM:217980
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Respiratory distress OMIM:619272
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Respiratory distress OMIM:251100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrosis, Absent nipple, Respiratory distress, Hypohidrotic ectodermal dysplasia, Anhidrosis,... OMIM:305100
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hepatomegaly, Respiratory distress OMIM:619383
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Nocardiosis
Peritonitis, Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Thy... ORPHA:31204
Alternating Hemiplegia Of Childhood
Apnea, Respiratory distress, Dysphagia, Flushing, Oral-pharyngeal dysphagia, Hyperhidrosis, Aspir... ORPHA:2131
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Thyroiditis, Hypothyroidism, Pneumonia, Hepatitis... ORPHA:37042
Farber Disease
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Respiratory insufficiency,... ORPHA:333
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cirrhosis, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Fin... OMIM:600376
Unilateral Polymicrogyria
Pseudobulbar paralysis, Apnea, Cyanosis, Epistaxis ORPHA:268943
Gitelman Syndrome
Maternal diabetes, Graves disease, Respiratory distress, Primary hyperaldosteronism, Hashimoto th... ORPHA:358
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Histiocytoid Cardiomyopathy
Cough, Polycystic ovaries, Hepatomegaly, Tachypnea, Cyanosis ORPHA:137675
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Familial Dysautonomia
Acrocyanosis, Hypohidrosis, Abnormality of the peritoneum, Hyperhidrosis ORPHA:1764
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Unilateral breast hypoplasia, Abnormality of thyroid physiology, Respiratory distress OMIM:300968
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Dysphagia, Hepatomegaly, Hyperventilation ORPHA:255210
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Pitt-Hopkins Syndrome
Acrocyanosis, Cryptorchidism, Sleep apnea, Abnormal pattern of respiration, Supernumerary nipple,... ORPHA:2896
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Respiratory distress, Aplasia/Hypoplasia of the gallbladder, B... ORPHA:2255
Tarp Syndrome
Apnea, Cyanosis, Cryptorchidism ORPHA:2886
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Episodic hyperhidrosis OMIM:223900
Arterial Tortuosity Syndrome
Prematurely aged appearance, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Telangiecta... ORPHA:3342
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Kasabach-Merritt Syndrome
Respiratory distress, Purpura, Hypopnea, Hepatic hemangioma, Petechiae, Hyperhidrosis ORPHA:2330
Campomelic Dysplasia
Apnea, Tracheobronchomalacia, Respiratory distress OMIM:114290
Auriculocondylar Syndrome
Obstructive sleep apnea, Respiratory distress, Snoring ORPHA:137888
Coccidioidomycosis
Peritonitis, Respiratory distress, Cough, Exudative pleural effusion, Pneumonia, Pleural empyema,... ORPHA:228123
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Goodpasture Syndrome
Restrictive ventilatory defect, Exertional dyspnea, Cough, Crackles, Increased DLCO, Tachypnea, C... OMIM:233450
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pancreatic endocrine tumor, Generalized abnormality of skin, Respiratory... ORPHA:805
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Infantile Krabbe Disease
Respiratory failure, Respiratory distress ORPHA:206436
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction, Hepatosplenom... ORPHA:505248
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Biotinidase Deficiency
Apnea, Respiratory distress, Hyperventilation ORPHA:79241
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Stüve-Wiedemann Syndrome
Apnea, Hypohidrosis, Respiratory distress, Hypothyroidism, Ectopic thyroid, Asthma, Hyperhidrosis ORPHA:3206
Listeriosis
Peritonitis, Respiratory distress, Splenic abscess, Pneumonia, Jaundice, Respiratory failure, Cho... ORPHA:533
Adnp Syndrome
Cryptorchidism, Polyphagia, Respiratory distress, Oral-pharyngeal dysphagia, Aspiration ORPHA:404448
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Inappropriate antidiuretic ho... ORPHA:79139
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Jaundice, Pulmonary embolism, Respiratory distress ORPHA:79282
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Polysplenia OMIM:616749
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Hyperhidrosis, Tachypnea, Pneumothorax, Hyperventilation ORPHA:90068
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Tracheomalacia, Respiratory insufficiency, ... ORPHA:536467
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Eisenmenger Syndrome
Wheezing, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular resistance, Hypo... ORPHA:97214
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Pachyonychia Congenita
Palmoplantar hyperhidrosis, Respiratory distress ORPHA:2309
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Respiratory distress, Hepatic steatosis, Hepatomegaly, Hyperhidrosis ORPHA:17
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Respiratory distress, Cholelithiasis, Biliary hyperplasia, Hepatomegaly, Pancreat... ORPHA:83617
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea ORPHA:99050
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Respiratory distress, Decreased res... ORPHA:177907
Schinzel-Giedion Syndrome
Respiratory distress, Annular pancreas, Dysphagia, Central hypothyroidism, Streak ovary, Recurren... ORPHA:798
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Generalized abnormality of skin, Premature skin wrinkling, Exertional dys... ORPHA:740
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Dyspnea, Respiratory distress, Breast aplasia, Respiratory failure ORPHA:2554
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Dermatomyositis
Acrocyanosis, Respiratory insufficiency, Telangiectasia of the skin, Erythema, Pulmonary arterial... ORPHA:221
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Respiratory distress, Splenomegaly OMIM:617088
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Respiratory failure requiring assisted ventilation, Hep... ORPHA:99125
Meier-Gorlin Syndrome 1
Cryptorchidism, Respiratory distress, Breast hypoplasia OMIM:224690
Ramos-Arroyo Syndrome
Xerostomia, Respiratory distress ORPHA:1051
Colchicine Poisoning
Cardiorespiratory arrest, Respiratory distress ORPHA:31824
Aicardi-Goutières Syndrome
Acrocyanosis, Hypothyroidism, Prolonged neonatal jaundice, Cutis marmorata, Diabetes mellitus, He... ORPHA:51
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Generalized Arterial Calcification Of Infancy
Respiratory distress, Hepatic calcification, Pancreatic calcification, Pulmonary arterial hyperte... ORPHA:51608
Truncus Arteriosus
Hypoplasia of the thymus, Tachypnea, Cyanosis, Adrenocortical abnormality ORPHA:3384
Osteoglophonic Dysplasia
Cryptorchidism, Respiratory distress OMIM:166250
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Fragile skin, Respiratory failure, Stridor, Pneumothorax ORPHA:79404
Isolated Arrhinia
Respiratory distress ORPHA:1134
Leptospirosis
Respiratory distress, Pleural effusion, Cough, Hepatomegaly, Jaundice, Hepatitis ORPHA:509
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Respiratory distress, Erythema, Fragile skin, Neonatal respiratory distress, Respiratory acidosis OMIM:614748
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Tay-Sachs Disease
Tremor, Exaggerated startle response, Increased serum beta-hexosaminidase ORPHA:845
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Abnormal testis morphology, Erythema, Respiratory failure ORPHA:2556
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Generalized abnormality of skin, Respiratory distress, Cough, Respiratory failure requiring assis... ORPHA:95455
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dysphagia, Nasal flaring, Asthma ORPHA:466943
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Arboleda-Tham Syndrome
Neonatal respiratory distress, Respiratory distress OMIM:616268
Cleidocranial Dysplasia
Neonatal respiratory distress, Respiratory distress OMIM:119600
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, A... ORPHA:64
Sandhoff Disease
Exaggerated startle response OMIM:268800
Doors Syndrome
Congenital hypothyroidism, Adrenal hyperplasia, Aspiration pneumonia, Respiratory distress ORPHA:79500
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Prematurely aged appearance, Poor wound healing, Fragile skin, Bruising susceptibil... ORPHA:287
Scimitar Syndrome
Pulmonary arterial hypertension, Cough, Respiratory distress, Pneumothorax ORPHA:185
Ulbright-Hodes Syndrome
Cryptorchidism, Maternal diabetes, Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response ORPHA:521426
Plague
Hepatomegaly, Acute infectious pneumonia, Respiratory distress, Splenomegaly ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Hypoplastic nipples, Delayed puberty, Abnormal thyroid hormone level, Cyst ... ORPHA:480880
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Obstructive sleep apnea, Respiratory distress, Premature thelarche OMIM:180849
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
8Q24.3 Microdeletion Syndrome
Dysphagia, Exocrine pancreatic insufficiency, Respiratory distress, Ectopic posterior pituitary ORPHA:508488
Pmm2-Cdg
Elevated circulating growth hormone concentration, Respiratory distress, Aplasia of the ovary, Hy... ORPHA:79318
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Exaggerated startle response ORPHA:438213

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 Dach1

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 Dach1.

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

Title Journal IMPC Allele PubMed ID
DACH1 stimulates shear stress-guided endothelial cell migration and coronary artery growth through the CXCL12-CXCR4 signaling axis. Genes & development (July 2017) Dach1tm1c(KOMP)Wtsi Dach1tm1a(KOMP)Wtsi PMC5580653

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MGI Allele Allele Type Produced
Dach1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dach1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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