Gene Summary

diacylglycerol kinase, delta
DGKdelta,  dgkd-2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
decreased fasting circulating glucose level Dgkdem1(IMPC)H HET   Early adult 6.46×10-05
decreased circulating glucose level Dgkdem1(IMPC)H HET Early adult 7.93×10-05
decreased lean body mass Dgkdem1(IMPC)H HET Early adult 5.54×10-05

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

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

MicroCT E18.5

Embryo reconstruction

4 Images

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.

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 Similarity of
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 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Respiratory distress, Nonproductive cough, Pneumothorax, Dacryocystitis, Respiratory failure, Pne... ORPHA:31204
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
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
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
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
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
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
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
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
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


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
Dgkdem1(IMPC)H Exon Deletion Mice

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