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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
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 lean body mass	Dgkd^em1(IMPC)H	HET	Early adult	6.04×10^-05
decreased circulating glucose level	Dgkd^em1(IMPC)H	HET	Early adult	9.04×10^-05
preweaning lethality, complete penetrance	Dgkd^em1(IMPC)H	HOM	Early adult	0.00
decreased fasting circulating glucose level	Dgkd^em1(IMPC)H	HET	Early adult	5.88×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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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 (371 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
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
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
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Enchondromatosis, Multiple, Ollier Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age	OMIM:601820
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Desmoid Disease, Hereditary	Desmoid tumors, Breast carcinoma	OMIM:135290
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, ...	OMIM:619751
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Decreased body weight	ORPHA:314811
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Acquired Ichthyosis	Neoplasm, Lymphoma, Multiple myeloma, Sarcoma	ORPHA:454
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra...	OMIM:616974
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia	ORPHA:366
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma	ORPHA:296
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:609016
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
3-Methylglutaconic Aciduria Type 1	Failure to thrive, Hypoglycemia	ORPHA:67046
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia	OMIM:262400
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ptosis	OMIM:300580
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea	ORPHA:1832
Glycogen Storage Disease Vi	Failure to thrive in infancy, Hypoglycemia	OMIM:232700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona...	ORPHA:293964
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Progressive Osseous Heteroplasia	Sarcoma	ORPHA:2762
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N...	ORPHA:2591
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Dac...	ORPHA:141083
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Pruritus, Upper airway obstruction, Palpebral edema, Respiratory distress	ORPHA:100057
Succinic Acidemia	Respiratory distress	OMIM:600335
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Respiratory insufficiency due to muscle weakness, Respiratory dist...	OMIM:613561
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Avian Influenza	Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, No...	ORPHA:454836
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia	OMIM:615158
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Recurre...	ORPHA:254875
Liposarcoma	Sarcoma	ORPHA:69078
Congenital Disorder Of Glycosylation, Type Iu	Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress, Respiratory distress	OMIM:615042
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Perching Syndrome	Respiratory distress	OMIM:617055
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Epicanthus	OMIM:614741
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Tularemia	Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Pleural effusion, Conjunctivitis, C...	ORPHA:3392
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia	ORPHA:6
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ...	ORPHA:83469
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D...	OMIM:262190
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Intrauterine growth retardation	ORPHA:26792
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Rhabdoid Tumor	Neoplasm of the central nervous system, Renal neoplasm, Sarcoma	ORPHA:69077
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Ptosis	OMIM:614669
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pulmonary arterial hy...	ORPHA:70588
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Epicanthus, Telecanthus, Dyspnea, Upslanted palpebral fissu...	ORPHA:2707
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Perioral eczema	ORPHA:79242
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Intrauterine growth retardation, Death in childhood	OMIM:615597
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Epicanthus, Dyspnea, Respiratory failure, Downslanted palpebral fissures	ORPHA:2759
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Malaria	Respiratory distress	ORPHA:673
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Werner Syndrome	Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o...	ORPHA:902
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures	OMIM:620211
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Ptosis, Telecanthus, Hypoventilation, Apnea, Recurrent pneumonia, Aspiratio...	ORPHA:314655
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Yellow Nail Syndrome	Neoplasm of the lung, Renal neoplasm, Neoplasm, Sarcoma	ORPHA:662
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir...	OMIM:615595
Propionic Acidemia	Hypoglycemia	ORPHA:35
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Ornithine Transcarbamylase Deficiency	Hypoglycemia	ORPHA:664
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Downslanted palpebral fissures, Respiratory distress	OMIM:608799
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Intrauterine growth retardation	OMIM:616733
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory...	ORPHA:348
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Abnormal circulating enzyme concentration or activity, Hypoventilation, Neo...	ORPHA:98915
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Respiratory failu...	OMIM:220110
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Respiratory distress	OMIM:606164
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Stt3B-Cdg	Respiratory distress, Intrauterine growth retardation	ORPHA:370924
Desmoid Tumor	Fibroma, Neoplasm of the skin, Desmoid tumors	ORPHA:873
Ovarian Fibrothecoma	Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma	ORPHA:314478
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Tuberous Sclerosis 2	Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep...	OMIM:613254
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Respiratory distress, Portal hypertension, Respiratory insufficien...	ORPHA:367
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Biotinidase Deficiency	Respiratory distress, Skin rash, Apnea, Conjunctivitis, Eczematoid dermatitis, Decreased circulat...	ORPHA:79241
Carnitine Deficiency, Systemic Primary	Respiratory distress, Elevated circulating alanine aminotransferase concentration, Elevated circu...	OMIM:212140
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma	ORPHA:220460
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure ...	ORPHA:308552
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Respiratory distress, Sparse eyelashes, Hooded eyelid, Upslanted p...	OMIM:612863
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Epicanthus, Telecanthus, Upslanted palpebral fissure, Thick eyebrow	OMIM:619383
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Intrauterine growth retardation	ORPHA:89844
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Neonatal death, Telecanthus	OMIM:231680
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Epicanthus, Telecanthus, Upslanted palpebral fissure, Long palpebral fissure	ORPHA:438216
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Telecanthus	OMIM:617102
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Respiratory distress, Inflammatory abnormality of the skin, Episod...	ORPHA:26793
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Epicanthus, Telecanthus, Upslanted palpebral fissure, Downslanted palpebral...	OMIM:610536
Moebius Syndrome	Respiratory distress, Congenital fibrosis of extraocular muscles, Epicanthus	OMIM:157900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Respiratory distress, Death in infancy, Jaundice, Elevated circula...	OMIM:617156
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Telecanthus, Neonatal respiratory distress, Tracheomalacia, Blepharophimosi...	OMIM:217980
Agnathia-Otocephaly Complex	Respiratory distress, Downslanted palpebral fissures, Tracheomalacia	OMIM:202650
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Isolated Atp Synthase Deficiency	Respiratory distress, Ptosis	ORPHA:254913
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr...	ORPHA:733
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation	OMIM:619793
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Epicanthus, Telecanthus, Synophrys, Recurrent pneumonia, Long eyelashes, De...	OMIM:617303
Congenital Enterovirus Infection	Respiratory distress, Skin rash, Hepatitis, Pleural effusion, Hepatic failure	ORPHA:292
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory...	ORPHA:333
Diaphanospondylodysostosis	Respiratory distress, Epicanthus, Respiratory insufficiency, Tracheomalacia, Intrauterine growth ...	OMIM:608022
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma	ORPHA:44890
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Fibrosarcoma, Histiocytoma, Osteosarcoma	OMIM:112250
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype...	OMIM:616482
Primary Dystonia, Dyt4 Type	Blepharospasm, Respiratory distress	ORPHA:98805
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Neonatal death, Intrauterine growth retardation, Hepatic failure	OMIM:608013
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo...	OMIM:610755
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Milroy Disease	Angiosarcoma, Neoplasm of the skin	ORPHA:79452
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Respiratory distress, Skin rash, Maculopapular exanthema, Crackles...	ORPHA:319213
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Respiratory distress, Inflammatory abnormality of the skin, Psoria...	ORPHA:37042
Oromandibular Dystonia	Blepharospasm, Respiratory distress	ORPHA:93958
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Epicanthus	ORPHA:2519
Tetrasomy 5P	Upslanted palpebral fissure, Pulmonary arterial hypertension, Epicanthus, Respiratory distress	ORPHA:3309
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Respiratory distress	ORPHA:329178
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Neurofibromatosis Type 1	Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio...	ORPHA:636
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Aplasia/Hypoplasia of the eyebrow	ORPHA:990
Craniofaciofrontodigital Syndrome	Respiratory distress, Epicanthus, Dyspnea, Lower eyelid edema, Pulmonary arterial hypertension	ORPHA:363705
Toxic Epidermal Necrolysis	Acute hepatic failure, Respiratory distress, Elevated hepatic transaminase, Entropion, Restrictiv...	ORPHA:537
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Abnormal circulating enzyme concentration or activity, Orthopnea, Respirato...	ORPHA:365
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Palpebral edema	ORPHA:50810
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Pustule, Skin rash, Respiratory distress	OMIM:612852
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Respiratory i...	OMIM:164310
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Long eyelashes, Short palpebral fissure	ORPHA:79330
Congenital Myasthenic Syndrome	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:98914
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age	OMIM:616026
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Recurrent skin infections, Skin rash, Pneumonia, Tachypnea, Hepa...	ORPHA:36234
Monosomy 22	Gonadal neoplasm, Schwannoma, Meningioma, Sarcoma	ORPHA:96123
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Dacryocystitis, Nonproductive cough, Dyspnea, ...	ORPHA:31204
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Epicanthus, Recurrent pneumonia	OMIM:607143
Infantile Krabbe Disease	Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure	ORPHA:206436
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Respiratory distress, Inflammatory abnormality of the skin, Eczema...	ORPHA:3260
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Shallow orbits, Death in childhood, Chronic lung disease	OMIM:613848
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Ramos-Arroyo Syndrome	Respiratory distress, Dacryocystitis, Nasolacrimal duct obstruction, Upslanted palpebral fissure,...	ORPHA:1051
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Downslanted palpebral fissures, Ptosis	ORPHA:1555
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Cowden Syndrome	Endometrial carcinoma, Follicular thyroid carcinoma, Cavernous hemangioma, Breast carcinoma, Hama...	ORPHA:201
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma	OMIM:619750
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Epicanthus	OMIM:618733
Mgat2-Cdg	Downslanted palpebral fissures, Long eyelashes, Reduced level of N-acetylglucosaminyltransferase ...	ORPHA:79329
Q Fever	Elevated hepatic transaminase, Respiratory distress, Maculopapular exanthema, Pneumonia, Hepatiti...	ORPHA:781
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Epicanthus, Telecanthus, Stridor, Long eyelashes, Conjunctivitis, Pulmonary...	ORPHA:505248
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Respiratory distress, Elevated circulating aspartate aminotransferase conc...	OMIM:256810
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Epicanthus, Superficial dermal perivascular inflammatory infiltrate, Eczema...	ORPHA:83617
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Blepharophimosis, S...	ORPHA:3342
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Absent eyebrow, Sparse eyelashes, Eczema, Absent eyelashes, Sparse eyebrow,...	OMIM:305100
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Listeriosis	Respiratory distress, Unusual skin infection, Miscarriage, Pneumonia, Pustule, Jaundice, Respirat...	ORPHA:533
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Testicular neoplasm, Angiofib...	ORPHA:276152
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Decreased methylmalonyl-CoA mutase activity	OMIM:251110
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Respiratory distress, Inflammatory abnormality of the skin, Respir...	ORPHA:95455
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory...	ORPHA:17
Auriculocondylar Syndrome	Respiratory distress, Ptosis	ORPHA:137888
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Intrauterine growth retardation, Recurrent pneumonia	OMIM:616271
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Sepsis In Premature Infants	Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory system phy...	ORPHA:90051
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Long eyelashes, Blepharophimosis, Intrauterine growth ret...	OMIM:224690
Japanese Encephalitis	Respiratory distress, Respiratory paralysis, Eyelid fasciculation, Abnormal pattern of respiratio...	ORPHA:79139
Coccidioidomycosis	Respiratory distress, Skin rash, Pneumonia, Pruritus, Erythema nodosum, Cough, Folliculitis, Pleu...	ORPHA:228123
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Neonatal respiratory distress, Respiratory distress	OMIM:260400
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction	OMIM:100800
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Downslanted palpebral fissures, Ptosis	OMIM:123790
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Synophrys, Downslanted palpebral fissures	OMIM:620369
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Increased circulating lactate deh...	ORPHA:90068
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Decreased methylmalonyl-CoA mutase activity	OMIM:251100
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Isolated Arrhinia	Respiratory distress, Eyelid coloboma	ORPHA:1134
Arboleda-Tham Syndrome	Respiratory distress, Epicanthus, Neonatal respiratory distress, Lacrimal duct stenosis, Highly a...	OMIM:616268
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Short palpebral fissure	OMIM:300968
Leptospirosis	Respiratory distress, Skin rash, Jaundice, Hepatitis, Pleural effusion, Cough, Elevated serum tra...	ORPHA:509
Rodrigues Blindness	Nasal flaring	OMIM:268320
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Prader-Willi Syndrome Due To Translocation	Almond-shaped palpebral fissure, Intrauterine growth retardation, Upslanted palpebral fissure, Re...	ORPHA:177907
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Meige Disease	Angiosarcoma	ORPHA:90186
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Elevated circulating alkaline phosphatase concentration	OMIM:618188
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph...	ORPHA:1018
Lymphedema-Distichiasis Syndrome	Fibrosarcoma	ORPHA:33001
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Thin eyebrow	ORPHA:2131
Adnp Syndrome	Respiratory distress, Bilateral ptosis, Slanting of the palpebral fissure, Long palpebral fissure...	ORPHA:404448
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut...	ORPHA:99880
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Abnormality of Krebs cycle metabolism, Dyspnea, Episodic respiratory distress, Hepatic fai...	ORPHA:255210
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory f...	ORPHA:340
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Uterine leiomyoma, Thyr...	ORPHA:143
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Jaundice, Pulmonary arterial hypertension, Intrauterine...	ORPHA:79282
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui...	ORPHA:805
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Esophageal Atresia	Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v...	ORPHA:1199
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory...	ORPHA:536467
Campomelic Dysplasia	Respiratory distress, Epicanthus, Neonatal respiratory distress, Apnea, Tracheomalacia, Stridor, ...	OMIM:114290
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Respiratory distress, Ptosis	OMIM:615273
Osteoglophonic Dysplasia	Respiratory distress, Telecanthus, Downslanted palpebral fissures, Shallow orbits	OMIM:166250
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respi...	ORPHA:79404
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Epicanthus, Synophrys, Asthma, Nasal flaring, Long palpebral fissure	ORPHA:466943
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Ear-Patella-Short Stature Syndrome	Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea	ORPHA:2554
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Rubinstein-Taybi Syndrome 1	Respiratory distress, Broad eyebrow, Epicanthus, Highly arched eyebrow, Nasolacrimal duct obstruc...	OMIM:180849
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnorm...	ORPHA:2556
Aicardi Syndrome	Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma	OMIM:304050
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea	OMIM:261740
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Sparse eyelashes, Sparse eyebrow, Respirator...	OMIM:614748
8Q24.3 Microdeletion Syndrome	Respiratory distress, Epicanthus, Highly arched eyebrow, Upslanted palpebral fissure, Long eyelas...	ORPHA:508488
Plague	Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Acute infectious pneumonia, Conju...	ORPHA:707
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Epicanthus, Downslanted palpebral fissures	OMIM:617088
Stüve-Wiedemann Syndrome	Respiratory distress, Intrauterine growth retardation, Asthma, Apnea	ORPHA:3206
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Shallow orbits	ORPHA:798
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Telecanthus, Upslanted palpebral fissure, Downslanted palpebral fissures, S...	ORPHA:480880
Doors Syndrome	Respiratory distress, Bilateral ptosis, Epicanthus, Aspiration pneumonia	ORPHA:79500
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art...	ORPHA:97214
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi...	ORPHA:363700
Gitelman Syndrome	Respiratory distress	ORPHA:358
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress	OMIM:306955
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Intrauterine growth retardation	ORPHA:2255
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax, Severe intrauterine growth retardation	ORPHA:3404
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Telecanthus, Recurrent pneumonia, Intrauterine growth retardation, Downslan...	ORPHA:99646
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Elevated alkaline phosphatase of bone origin	ORPHA:51608
Pmm2-Cdg	Elevated hepatic transaminase, Respiratory distress, Epicanthus, Upslanted palpebral fissure, Asp...	ORPHA:79318
Alström Syndrome	Elevated hepatic transaminase, Respiratory distress, Portal hypertension, Chronic pulmonary obstr...	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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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