Gene Summary

Name:
diacylglycerol kinase, delta
Synonyms:
DGKdelta,  dgkd-2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased fasting circulating glucose level Dgkdem1(IMPC)H HET   Early adult 5.88×10-05
decreased lean body mass Dgkdem1(IMPC)H HET Early adult 6.04×10-05
preweaning lethality, complete penetrance Dgkdem1(IMPC)H HOM   Early adult 0.00
decreased circulating glucose level Dgkdem1(IMPC)H HET Early adult 9.04×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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
phenotypes
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
Dgkdem1(IMPC)H Exon Deletion Mice

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