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Gene: Dgkd MGI:2138334

Gene Summary

Name:

diacylglycerol kinase, delta

Synonyms:

DGKdelta, dgkd-2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased fasting circulating glucose level	Dgkd^em1(IMPC)H	HET	Early adult	6.46×10^-05
decreased circulating glucose level	Dgkd^em1(IMPC)H	HET	Early adult	7.93×10^-05
decreased lean body mass	Dgkd^em1(IMPC)H	HET	Early adult	5.54×10^-05

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Dgkd 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.

Human diseases associated with Dgkd (0 diseases)
Human diseases predicted to be associated with Dgkd (373 diseases)

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

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

Disease	Matching phenotypes	Source
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Cerebral Sarcoma	Neoplasm, Fibrosarcoma	OMIM:117600
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Li-Fraumeni Syndrome 2	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Enchondromatosis, Multiple, Ollier Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:166000
Melanoma-Pancreatic Cancer Syndrome	Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel...	OMIM:606719
Rhabdoid Tumor Predisposition Syndrome 2	Neoplasm of the central nervous system, Carcinoma	OMIM:613325
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Lichen Sclerosus Et Atrophicus	Squamous cell carcinoma, Carcinoma	OMIM:151590
Desmoid Disease, Hereditary	Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma	OMIM:135290
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Multiple Enchondromatosis, Maffucci Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:614569
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou...	ORPHA:443167
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Large for gestational age, Truncal obesity	OMIM:240900
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:610021
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Truncal obesity, Large for gestational age, Nonketotic hypoglycemia, Hy...	ORPHA:293964
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer...	OMIM:151623
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Large for gestational age	OMIM:601820
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia	OMIM:600496
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr...	ORPHA:263458
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Stuve-Wiedemann Syndrome 2	Respiratory distress, Stillbirth, Eczema, Death in adolescence, Neonatal death, Pulmonary arteria...	OMIM:619751
Paraneoplastic Pemphigus	Thymoma, B-cell lymphoma, Sarcoma	ORPHA:63455
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Decreased body weight	ORPHA:314811
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Impaired gluconeogenesis	OMIM:261650
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Maffucci Syndrome	Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost...	ORPHA:163634
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Carcinoma	OMIM:612591
Acquired Ichthyosis	Neoplasm, Multiple myeloma, Sarcoma, Lymphoma	ORPHA:454
Hyperinsulinism Due To Glucokinase Deficiency	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper...	ORPHA:79299
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Ollier Disease	Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ...	ORPHA:296
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction	ORPHA:141152
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Tracheopathia Osteoplastica	Dyspnea, Wheezing, Recurrent pneumonia, Cough	OMIM:189961
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Bronchopulmonary Dysplasia	Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ...	ORPHA:70589
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Pleuropulmonary Blastoma	Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma	OMIM:601200
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Failure to thrive, Hyperinsulinemia	OMIM:606528
Immunodeficiency 95	Respiratory distress, Recurrent viral pneumonia, Respiratory failure	OMIM:619773
Laryngotracheal Angioma	Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor	ORPHA:137935
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis	OMIM:300580
Apc-Related Attenuated Familial Adenomatous Polyposis	Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod...	ORPHA:247806
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure	ORPHA:1832
Large Congenital Melanocytic Nevus	Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin	ORPHA:626
Glycogen Storage Disease Vi	Hypoglycemia, Failure to thrive in infancy	OMIM:232700
Perching Syndrome	Respiratory distress	OMIM:617055
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Severe Acute Respiratory Syndrome	Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi...	ORPHA:140896
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet...	ORPHA:324575
Infantile Myofibromatosis	Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o...	ORPHA:2591
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Failure to thrive	ORPHA:67046
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia	OMIM:616113
Succinic Acidemia	Respiratory distress	OMIM:600335
Nasolacrimal Duct Cyst	Abnormal lacrimal sac morphology, Episodic respiratory distress, Stridor, Chronic irritative conj...	ORPHA:141083
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia	Unilateral vestibular schwannoma, Carcinoma	OMIM:603641
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Mitochondrial Complex I Deficiency, Nuclear Type 30	Respiratory failure, Intrauterine growth retardation, Neonatal death	OMIM:301021
Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca...	ORPHA:220460
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy	OMIM:604377
Recurrent Respiratory Papillomatosis	Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T...	ORPHA:60032
Avian Influenza	Respiratory distress, Miscarriage, Nonproductive cough, Increased circulating lactate dehydrogena...	ORPHA:454836
Multiple Carboxylase Deficiency	Respiratory distress, Abnormal enzyme/coenzyme activity, Skin rash, Tachypnea, Decreased biotinid...	ORPHA:148
Growth Hormone Insensitivity Syndrome	Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I...	ORPHA:181393
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste...	ORPHA:264675
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Gardner Syndrome	Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci...	ORPHA:79665
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency, Bilateral ptosis, Recurrent pneumonia, Ventilato...	ORPHA:254875
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Cryptogenic Organizing Pneumonia	Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent...	ORPHA:1302
Liposarcoma	Sarcoma	ORPHA:69078
Pleural Mesothelioma	Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology	ORPHA:50251
Familial Adenomatous Polyposis 1	Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade...	OMIM:175100
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress	OMIM:615042
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr...	ORPHA:1303
Chronic Pneumonitis Of Infancy	Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H...	ORPHA:91359
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Epicanthus	OMIM:614741
Rhabdoid Tumor	Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma, Renal neoplasm	ORPHA:69077
Osteogenic Sarcoma	Osteosarcoma, Retinoblastoma	OMIM:259500
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect	OMIM:614399
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis	OMIM:619466
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Alpha-1-Antitrypsin Deficiency	Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Cough, Elevated hepatic transaminas...	OMIM:613490
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm of t...	ORPHA:83469
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H...	OMIM:262190
Tularemia	Respiratory distress, Conjunctivitis, Skin rash, Cough, Pneumonia, Pleural effusion, Cutaneous ab...	ORPHA:3392
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus...	ORPHA:411703
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Failure to thrive in infancy	ORPHA:6
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Cough, Tachypnea	OMIM:263000
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Intrauterine growth retardation	ORPHA:26792
Familial Nasal Acilia	Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea	ORPHA:922
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Palpebral edema, Upper airway obstruction	ORPHA:100057
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona...	OMIM:610921
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Laryngeal Web, Familial	Respiratory distress, Stridor	OMIM:150360
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Short palpebral fissure, Absent eyebrow, Upslanted palpebral fissure, Thin ...	ORPHA:2707
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Failure to thrive	OMIM:617872
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Keratoconjunctivitis, Tachypnea, Perioral eczema	ORPHA:79242
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood, Intrauterine growth retardation	OMIM:615597
Meconium Aspiration Syndrome	Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,...	ORPHA:70588
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Downslanted palpebral fissures, Epicanthus, Dyspnea, Respiratory failure	ORPHA:2759
Werner Syndrome	Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane...	ORPHA:902
Retinoblastoma	Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma	OMIM:180200
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Aplasia/Hypoplasia of the eyebrow, Intrauterine growth retardation, Respiratory distress	ORPHA:261304
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea...	ORPHA:36238
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor...	ORPHA:44890
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring...	ORPHA:254864
Pneumocystosis	Chronic oral candidiasis, Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial...	ORPHA:723
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Elevated circulating alkaline phosphatase concentration	OMIM:618188
Yellow Nail Syndrome	Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma	ORPHA:662
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Malaria	Respiratory distress	ORPHA:673
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for...	OMIM:610913
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Aspiration pneumonia, Downslanted palpebral fissures, Telecanthus, R...	ORPHA:314655
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ...	ORPHA:2414
Familial Adenomatous Polyposis	Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi...	ORPHA:733
Acute Lung Injury	Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure	ORPHA:178320
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor, Ptosis	OMIM:211530
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Congenital Disorder Of Glycosylation, Type Ie	Downslanted palpebral fissures, Elevated hepatic transaminase, Respiratory distress	OMIM:608799
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Sleep apnea, Abnormal enzyme/coenzyme activity, Respiratory insufficiency, ...	ORPHA:98915
Desmoid Tumor	Desmoid tumors, Intestinal polyposis, Neoplasm of the skin, Fibroma	ORPHA:873
Propionic Acidemia	Hypoglycemia	ORPHA:35
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Intrauterine growth retardation	OMIM:616733
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Abnormal enzyme/coenzyme activity, Apneic episodes in i...	ORPHA:348
Anaplastic Thyroid Carcinoma	Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Stridor	ORPHA:142
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Decreased liver function, Death in childhood, Exertional dyspnea, Respirato...	OMIM:220110
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac...	OMIM:610978
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Downslanted palpebral fissures, Epicanthus, Respiratory distress, Sparse eyebrow	OMIM:606164
X-Linked Centronuclear Myopathy	Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation	ORPHA:596
Stt3B-Cdg	Respiratory distress, Intrauterine growth retardation	ORPHA:370924
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia	OMIM:606763
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Short palpebral fissure, Sparse eyelashes, Upslanted palpebral fissure, Hoo...	OMIM:612863
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Mody	Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Glycosuria, Neonatal hypogly...	ORPHA:552
Ovarian Fibrothecoma	Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma	ORPHA:314478
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Tuberous Sclerosis 2	Optic nerve glioma, Subependymal nodules, Subungual fibromas, Cortical tubers, Renal angiomyolipo...	OMIM:613254
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia, Failure to thrive	OMIM:614736
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Telecanthus, Respiratory distress	OMIM:617102
Biotinidase Deficiency	Respiratory distress, Apnea, Eczematoid dermatitis, Skin rash, Hyperventilation, Conjunctivitis, ...	ORPHA:79241
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Decreased liver function, Hepatic failure, Respiratory insufficiency, Eleva...	ORPHA:367
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Retinoblastoma	Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy...	ORPHA:790
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Abnormal enzyme/coenzyme activity, Respiratory insufficiency, Increased cir...	ORPHA:308552
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Neonatal death, Death in infancy	OMIM:300219
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Intrauterine growth retardation	ORPHA:89844
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Thick eyebrow, Upslanted palpebral fissure, Telecanthus, Epicanthus	OMIM:619383
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Multiple Acyl-Coa Dehydrogenase Deficiency	Telecanthus, Respiratory distress, Jaundice, Neonatal death	OMIM:231680
Surfactant Metabolism Dysfunction, Pulmonary, 1	Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo...	OMIM:265120
Slc35A1-Cdg	Respiratory distress, Hypoxemia, Pneumonia	ORPHA:238459
Infant Acute Respiratory Distress Syndrome	Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring	ORPHA:70587
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Upslanted palpebral fissure, Downslanted palpebral fissures, Epicanthus, Te...	OMIM:610536
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Testicular neoplasm, Sarcoma, Neoplasm of the breast, Neoplasm of the thyroid gland	ORPHA:457059
Moebius Syndrome	Respiratory distress, Epicanthus, Congenital fibrosis of extraocular muscles	OMIM:157900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Tachypnea, Elevat...	ORPHA:26793
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Short palpebral fissure, Tracheomalacia, Telecanthus, Neonatal respiratory ...	OMIM:217980
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Triosephosphate Isomerase Deficiency	Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat...	OMIM:615512
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress	OMIM:618426
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation	OMIM:619793
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency, Epicanthus, Intrauterine growth ...	OMIM:608022
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Death in childhood, Telecanthus, Epicanthus, Long eyelashes, Synophrys, Rec...	OMIM:617303
Mastocytosis	Acute leukemia, Sarcoma, Chronic leukemia	ORPHA:98292
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Upslanted palpebral fissure, Long palpebral fissure, Telecanthus, Epicanthus	ORPHA:438216
Congenital Enterovirus Infection	Respiratory distress, Skin rash, Hepatic failure, Hepatitis, Pleural effusion	ORPHA:292
Leigh Syndrome With Cardiomyopathy	Respiratory distress, Decreased liver function, Apnea, Central hypoventilation, Bilateral ptosis,...	ORPHA:70474
Choanal Atresia	Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai...	ORPHA:137914
Agnathia-Otocephaly Complex	Downslanted palpebral fissures, Respiratory distress, Tracheomalacia	OMIM:202650
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Farber Disease	Respiratory distress, Abnormal enzyme/coenzyme activity, Hepatic failure, Respiratory insufficien...	ORPHA:333
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Hepatic failure, Neonatal death, Intrauterine growth retardation	OMIM:608013
Congenital Myasthenic Syndrome	Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ...	ORPHA:98914
Primary Dystonia, Dyt4 Type	Respiratory distress, Blepharospasm	ORPHA:98805
Oromandibular Dystonia	Respiratory distress, Blepharospasm	ORPHA:93958
Congenital Tracheomalacia	Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Neonatal respir...	ORPHA:95430
Multiple Endocrine Neoplasia, Type Iv	Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri...	OMIM:610755
Milroy Disease	Angiosarcoma, Neoplasm of the skin	ORPHA:79452
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Histiocytoma, Osteosarcoma, Fibrosarcoma	OMIM:112250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Epicanthus, Pulmonary arterial hypertension	ORPHA:2519
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Sleep apnea, Abnormal enzyme/coenzyme activity, Respiratory insufficiency, ...	ORPHA:365
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Elevated hepatic transaminase	ORPHA:329178
Lujo Hemorrhagic Fever	Respiratory distress, Skin rash, Nonproductive cough, Maculopapular exanthema, Fulminant hepatiti...	ORPHA:319213
Tetrasomy 5P	Respiratory distress, Epicanthus, Pulmonary arterial hypertension, Upslanted palpebral fissure	ORPHA:3309
Neurofibromatosis Type 1	Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Multiple lipoma...	ORPHA:636
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Eczematoid dermatitis, Inflammatory abnormality of the skin, Recurrent skin...	ORPHA:37042
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the eyebrow, Respiratory distress	ORPHA:990
Spinocerebellar Ataxia, X-Linked 3	Episodic respiratory distress, Episodic hypoventilation, Death in infancy	OMIM:301790
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Craniofaciofrontodigital Syndrome	Respiratory distress, Lower eyelid edema, Epicanthus, Dyspnea, Pulmonary arterial hypertension	ORPHA:363705
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Palpebral edema	ORPHA:50810
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Respiratory distress, Pustule, Skin rash	OMIM:612852
Auriculocondylar Syndrome	Respiratory distress, Snoring, Obstructive sleep apnea, Ptosis	ORPHA:137888
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Restrictive v...	OMIM:164310
Toxic Epidermal Necrolysis	Respiratory distress, Acute hepatic failure, Cough, Elevated hepatic transaminase, Restrictive ve...	ORPHA:537
Nocardiosis	Respiratory distress, Nonproductive cough, Pneumothorax, Dacryocystitis, Respiratory failure, Pne...	ORPHA:31204
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypoglycemia, Glycosuria, Large for gestational age, Diabetes mellitus	OMIM:616026
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Skin rash, Recurrent skin infections, Tachypnea, Hepatitis, Pneu...	ORPHA:36234
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Abnormal enzyme/coenzyme activity	ORPHA:206436
Mogs-Cdg	Respiratory distress, Apnea, Short palpebral fissure, Long eyelashes, Hypoventilation	ORPHA:79330
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Asthma, Inflammatory abnormality of the skin, Eczema, Chronic hepatitis, Pu...	ORPHA:3260
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Cowden Syndrome	Papilloma, Neoplasm, Lipoma, Breast carcinoma, Neoplasm of the central nervous system, Melanoma, ...	ORPHA:201
Mgat2-Cdg	Downslanted palpebral fissures, Long eyelashes, Respiratory distress, Reduced level of N-acetylgl...	ORPHA:79329
Ramos-Arroyo Syndrome	Respiratory distress, Upslanted palpebral fissure, Dacryocystitis, Narrow palpebral fissure, Naso...	ORPHA:1051
Q Fever	Respiratory distress, Maculopapular exanthema, Cough, Elevated hepatic transaminase, Hepatitis, P...	ORPHA:781
Monosomy 22	Schwannoma, Sarcoma, Meningioma, Gonadal neoplasm	ORPHA:96123
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Epicanthus, Aspiration	OMIM:618733
Beare-Stevenson Cutis Gyrata Syndrome	Downslanted palpebral fissures, Respiratory distress, Ptosis	OMIM:123790
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma	OMIM:619750
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Downslanted palpebral fissures, Respiratory distress, Ptosis	ORPHA:1555
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Airway obstruction, Stridor, Telecanthus, Epicanthus, Long eyelashes, Pulmo...	ORPHA:505248
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Thymoma, Pituitary null cell adenoma, Pituitary adenoma, P...	ORPHA:276152
Renal Dysplasia-Limb Defects Syndrome	Respiratory distress, Intrauterine growth retardation, Neonatal death, Pneumothorax, Respiratory ...	OMIM:266910
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Decreased methylmalonyl-CoA mutase activity	OMIM:251110
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Radio-Renal Syndrome	Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure	ORPHA:3015
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Eczema, Downslanted palpebral fissures, Epicanthus, Superficial dermal peri...	ORPHA:83617
Listeriosis	Unusual skin infection, Respiratory distress, Miscarriage, Conjunctivitis, Pustule, Respiratory f...	ORPHA:533
Pulmonary Hypertension, Primary, 3	Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary...	OMIM:615343
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Decreased methylmalonyl-CoA mutase activity	OMIM:251100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Absent eyebrow, Sparse eyebrow, Sparse eyelashes, Eczema, Absent eyelashes,...	OMIM:305100
Meier-Gorlin Syndrome 1	Respiratory distress, Intrauterine growth retardation, Short palpebral fissure, Long eyelashes, D...	OMIM:224690
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Arterial Tortuosity Syndrome	Respiratory distress, Short palpebral fissure, Cardiorespiratory arrest, Dyspnea, Blepharophimosi...	ORPHA:3342
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Trichiasis, ...	ORPHA:95455
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Intrauterine growth retardation, Recurrent pneumonia	OMIM:616271
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Sepsis In Premature Infants	Decreased liver function, Abnormal respiratory system physiology, Abnormal mucociliary clearance,...	ORPHA:90051
Coccidioidomycosis	Respiratory distress, Folliculitis, Skin rash, Pleural empyema, Cough, Pruritus, Pneumonia, Exuda...	ORPHA:228123
Brain-Lung-Thyroid Syndrome	Respiratory distress, Asthma, Recurrent pneumonia, Neonatal respiratory distress, Pulmonary arter...	ORPHA:209905
Shwachman-Diamond Syndrome 1	Respiratory distress, Elevated hepatic transaminase, Neonatal respiratory distress	OMIM:260400
Japanese Encephalitis	Respiratory distress, Eyelid fasciculation, Irregular respiration, Respiratory paralysis, Abnorma...	ORPHA:79139
Isolated Arrhinia	Respiratory distress, Eyelid coloboma	ORPHA:1134
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Increased circulating lactate dehydrogenase concentrat...	ORPHA:90068
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase, Pt...	ORPHA:17
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Short palpebral fissure	OMIM:300968
Arboleda-Tham Syndrome	Respiratory distress, Conjunctivitis, Upper eyelid edema, Thin eyebrow, Sparse medial eyebrow, Hi...	OMIM:616268
Complete Atrioventricular Septal Defect	Pulmonary venous hypertension, Crackles, Elevated pulmonary artery pressure, Wheezing, Tachypnea,...	ORPHA:1329
Rodrigues Blindness	Nasal flaring	OMIM:268320
Leptospirosis	Respiratory distress, Skin rash, Cough, Hepatitis, Elevated serum transaminases during infections...	ORPHA:509
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Meige Disease	Angiosarcoma	ORPHA:90186
Lymphedema-Distichiasis Syndrome	Fibrosarcoma	ORPHA:33001
Alternating Hemiplegia Of Childhood	Respiratory distress, Thin eyebrow, Apnea, Aspiration	ORPHA:2131
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Episodic respiratory distress, Hepatic failure, Abnormality of Krebs cycle metabolism, Hyp...	ORPHA:255210
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Adnp Syndrome	Respiratory distress, Slanting of the palpebral fissure, Long palpebral fissure, Bilateral ptosis...	ORPHA:404448
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Cough, Elevated hepatic transaminase, Respiratory failure, Pneumonia, Pleur...	ORPHA:340
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Intrauterine growth retardation, Almond-shaped palpebral fissure, Upslanted...	ORPHA:177907
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Fibroma, Tracheobronchial leiomyom...	ORPHA:1018
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Jaundice, Pulmonary embolism, Pulmonary arterial hypertension, Intrauterine...	ORPHA:79282
Hyperparathyroidism-Jaw Tumor Syndrome	Lipoma, Thyroid carcinoma, Parathyroid adenoma, Nephroblastoma, Testicular neoplasm, Fibroma, Ren...	ORPHA:99880
Osteoglophonic Dysplasia	Downslanted palpebral fissures, Shallow orbits, Respiratory distress	OMIM:166250
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Elevated hepatic transaminase, Central sleep apnea, Ptosis	OMIM:615273
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Parathyroid Carcinoma	Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Nephroblastoma, Testicular neoplasm, Fibroma, R...	ORPHA:143
Cryptococcosis	Respiratory distress, Cough, Pleural effusion, Pneumonia, Dyspnea	ORPHA:1546
Campomelic Dysplasia	Respiratory distress, Apnea, Short palpebral fissure, Tracheomalacia, Stridor, Tracheobronchomala...	OMIM:114290
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Esophageal Atresia	Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs...	ORPHA:1199
Tuberous Sclerosis Complex	Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P...	ORPHA:805
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Tracheomalacia, Respiratory insufficiency, Repeated pneumothoraces, Restric...	ORPHA:536467
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pyoderma, Stridor, Pneumonia, Pneumothorax, Dysp...	ORPHA:79404
Multiple Endocrine Neoplasia Type 1	Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad...	ORPHA:652
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Long palpebral fissure, Epicanthus, Synophrys, Nasal flaring	ORPHA:466943
Rubinstein-Taybi Syndrome 1	Respiratory distress, Thick eyebrow, Broad eyebrow, Downslanted palpebral fissures, Epicanthus, L...	OMIM:180849
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal nasolacrimal system morphology, Abnormal eyelash morphology, Dyspn...	ORPHA:2556
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure	ORPHA:2554
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Aicardi Syndrome	Lipoma, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Carcinoma	OMIM:304050
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Upper airway obstruction, Dyspnea	ORPHA:141127
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea	ORPHA:31826
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Respiratory acidosis, Sparse eyebrow, Sparse eyelashes, Neonatal respirator...	OMIM:614748
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Downslanted palpebral fissures, Epicanthus, Respiratory distress	OMIM:617088
Plague	Respiratory distress, Skin rash, Acute infectious pneumonia, Erythema nodosum, Chapped lip, Conju...	ORPHA:707
Scimitar Syndrome	Respiratory distress, Pneumothorax, Pulmonary arterial hypertension, Cough	ORPHA:185
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Asthma, Intrauterine growth retardation	ORPHA:3206
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Schinzel-Giedion Syndrome	Respiratory distress, Shallow orbits, Recurrent pneumonia	ORPHA:798
Aortic Arch Interruption	Respiratory distress, Exertional dyspnea, Tachypnea	ORPHA:2299
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Short palpebral fissure, Upslanted palpebral fissure, Downslanted palpebral...	ORPHA:480880
Doors Syndrome	Bilateral ptosis, Epicanthus, Aspiration pneumonia, Respiratory distress	ORPHA:79500
Eisenmenger Syndrome	Respiratory distress, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hypertension, I...	ORPHA:97214
Gitelman Syndrome	Respiratory distress	ORPHA:358
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Optic nerve glioma, Hemangioma, Subcutaneous neurofibromas, Ossifying fibroma, Lisch nodules, Neu...	ORPHA:363700
Ulbright-Hodes Syndrome	Respiratory distress, Severe intrauterine growth retardation, Pneumothorax, Respiratory failure	ORPHA:3404
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Downslanted palpebral fissures, Telecanthus, Recurrent pneumonia, Intrauter...	ORPHA:99646
8Q24.3 Microdeletion Syndrome	Respiratory distress, Intrauterine growth retardation, Thick eyebrow, Upslanted palpebral fissure...	ORPHA:508488
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress	OMIM:306955
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intrauterine growth retardation	ORPHA:2255
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failure requiri...	ORPHA:99125
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Elevated alkaline phosphatase of bone origin	ORPHA:51608
Pmm2-Cdg	Respiratory distress, Upslanted palpebral fissure, Aspiration pneumonia, Epicanthus, Elevated hep...	ORPHA:79318
Alström Syndrome	Respiratory distress, Chronic pulmonary obstruction, Hepatic failure, Elevated gamma-glutamyltran...	ORPHA:64

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 Dgkd

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 Dgkd.

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

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MGI Allele	Allele Type	Produced
Dgkd^em1(IMPC)H	Exon Deletion	Mice

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