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Gene: Tnrc6c MGI:2443265

Gene Summary

Name:

trinucleotide repeat containing 6C

Synonyms:

9930033H14Rik

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	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal coat/hair pigmentation		Tnrc6c^em1(IMPC)J	HOM		Early adult	1.84×10^-06
abnormal vocalization		Tnrc6c^em1(IMPC)J	HOM		Early adult	1.61×10^-05

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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.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Tnrc6c 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 Tnrc6c (0 diseases)
Human diseases predicted to be associated with Tnrc6c (488 diseases)

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

The table below shows human diseases predicted to be associated to Tnrc6c by phenotypic similarity.

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ...	OMIM:263000
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Death in infancy	OMIM:254120
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo...	OMIM:610921
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea	OMIM:267450
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Cyanotic episode	OMIM:610992
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne...	ORPHA:2032
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia	ORPHA:91359
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i...	OMIM:619773
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aspiration pneumonia	ORPHA:141152
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachypnea, Nasal ...	ORPHA:70587
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re...	OMIM:610910
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
Bronchopulmonary Dysplasia	Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ...	ORPHA:70589
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
High Altitude Pulmonary Edema	Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia	ORPHA:330012
Succinic Acidemia	Respiratory distress	OMIM:600335
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Bronchiolitis Obliterans	Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Hypoxemia, Bronchiectasis	ORPHA:1303
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d...	ORPHA:2302
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi...	ORPHA:922
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho...	ORPHA:50251
Severe Acute Respiratory Syndrome	Respiratory distress, Hypoxemia, Dyspnea, Acute infectious pneumonia	ORPHA:140896
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia, Pulmonary hypoplasia	ORPHA:2140
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Death in adolescence, Stillbirth	OMIM:619751
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia...	ORPHA:79126
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib...	OMIM:178500
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos...	ORPHA:199241
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Breath-Holding Spells	Cyanosis	OMIM:607578
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia	ORPHA:264675
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Pleural effusion, Cyanosis	ORPHA:2414
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Laryngotracheoesophageal Cleft	Dyspnea, Recurrent respiratory infections, Cyanosis	ORPHA:2004
Slc35A1-Cdg	Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Cryptogenic Organizing Pneumonia	Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia	ORPHA:1302
Monosodium Glutamate Sensitivity	Dyspnea, Flushing	OMIM:231630
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration	ORPHA:77260
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis	OMIM:615993
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Apnea, Cyanosis, Tachypnea, Pneumothorax, Recurrent respira...	ORPHA:2257
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon...	ORPHA:178320
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr...	ORPHA:60032
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Laryngomalacia	Respiratory distress	OMIM:150280
Acquired Methemoglobinemia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:464453
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation	OMIM:601706
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin...	OMIM:616414
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis	ORPHA:137914
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Dyspnea, Hypoxemia, H...	ORPHA:79127
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Staphylococcal Necrotizing Pneumonia	Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Acute infectious pneu...	ORPHA:36238
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Angioedema	ORPHA:100057
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis	ORPHA:411703
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia	ORPHA:747
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea	ORPHA:1832
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Hereditary Methemoglobinemia	Exertional dyspnea, Cyanosis	ORPHA:621
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Hypoxemia	ORPHA:70588
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Oxygen desaturation on exert...	OMIM:610978
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis	OMIM:250800
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation	OMIM:614370
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Obesity And Hypopigmentation	Red hair	OMIM:620195
Malaria	Respiratory distress	ORPHA:673
Sarcoidosis, Susceptibility To, 2	Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Dyspnea, Abnormal pulmonary interstitial mo...	OMIM:612387
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Oxygen desaturati...	ORPHA:60025
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration	OMIM:620011
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Postsynaptic Congenital Myasthenic Syndromes	Exertional dyspnea, Orthopnea, Cyanosis	ORPHA:98913
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Pneumonia	ORPHA:596
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Avian Influenza	Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Dyspnea, Hypoxemia, M...	ORPHA:454836
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Congenital Myopathy 10A, Severe Variant	Respiratory distress	OMIM:614399
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, Neonatal death	OMIM:300219
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis	ORPHA:99825
Pulmonary Arteriovenous Malformation	Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Pleural empyema	ORPHA:2038
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhood, Death in infancy, Recurrent ...	OMIM:618426
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy	OMIM:615042
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Pulmonary hypoplasia	OMIM:616733
Chitayat Syndrome	Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Recurrent pneumonia	ORPHA:254875
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Bronchiectasis	OMIM:606763
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Neoplasm of the lung	ORPHA:142
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In...	ORPHA:95430
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Isolated Right Ventricular Hypoplasia	Dyspnea, Hypoxemia, Cyanosis	ORPHA:439
Congenital Heart Block	Pleural effusion, Cyanosis	ORPHA:60041
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Paroxysmal dyspnea	ORPHA:444013
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue...	ORPHA:352731
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Dyspnea	ORPHA:2759
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia	ORPHA:3309
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea	ORPHA:86812
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return	ORPHA:860
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia	OMIM:184260
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Death in infancy	OMIM:614299
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Neonatal death, Pulmonary hypoplasia	OMIM:231680
Tularemia	Respiratory distress, Pneumonia, Pleural effusion	ORPHA:3392
Congenital Myasthenic Syndrome	Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress...	ORPHA:98914
Congenital Tricuspid Valve Dysplasia	Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return	ORPHA:555874
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Jaundice	OMIM:250940
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Recurrent respirato...	OMIM:211530
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Double Outlet Right Ventricle	Pulmonary artery atresia, Tachypnea, Cyanosis	ORPHA:3426
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Telangiectasia	OMIM:608799
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation	ORPHA:314655
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Irregular respiration	OMIM:604377
Waardenburg Syndrome Type 3	Acrocyanosis, Atelectasis	ORPHA:896
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility	ORPHA:335
Atrial Septal Defect, Ostium Primum Type	Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respirat...	ORPHA:99106
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Sepsis In Premature Infants	Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura	ORPHA:90051
Absence Of The Pulmonary Artery	Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Dyspnea, Recurrent respira...	ORPHA:980
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia	OMIM:268320
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return	ORPHA:99104
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis	ORPHA:330021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Lymphatic Malformation 7	Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion	OMIM:617300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress	OMIM:620375
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia	OMIM:202650
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Pulmonary hypoplasia	OMIM:608013
Congenital Tracheal Stenosis	Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary artery from asce...	ORPHA:141127
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Ataxia-Telangiectasia	Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair	ORPHA:100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Pulmonary hypoplasia	OMIM:617895
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary edema, Tachypnea	ORPHA:31826
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Acrocyanosis	ORPHA:1867
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia	OMIM:151210
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema	OMIM:261740
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea	ORPHA:159
Complete Atrioventricular Septal Defect	Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia	ORPHA:1329
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice	ORPHA:26793
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Palmoplantar cutis laxa, Central apnea, Neonatal death	OMIM:616482
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Cyanosis	OMIM:617239
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress	ORPHA:1145
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Cyanosis	OMIM:619580
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Necrotizing Enterocolitis	Apnea, Cyanosis	ORPHA:391673
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma...	ORPHA:185
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonatal jaundice, Jaundice	OMIM:615512
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections	OMIM:619383
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Cardiogenic Shock	Dyspnea, Cyanosis, Orthopnea, Hypoxemia	ORPHA:97292
Double Outlet Left Ventricle	Pulmonary artery stenosis, Tachypnea, Cyanosis	ORPHA:3427
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea	ORPHA:99103
Alfadhel Syndrome	Nasal flaring	OMIM:620655
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a...	ORPHA:3214
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya...	OMIM:233450
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Esophageal Atresia	Bronchitis, Respiratory distress, Cyanosis, Episodic respiratory distress, Recurrent respiratory ...	ORPHA:1199
Mucopolysaccharidosis-Plus Syndrome	Recurrent pneumonia, Respiratory distress, Death in childhood, Recurrent bronchopulmonary infecti...	OMIM:617303
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Chylothorax, Death in childhood, Death in infancy	OMIM:620278
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Pulmonary arter...	OMIM:610655
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress	OMIM:620166
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Radio-Renal Syndrome	Respiratory distress, Chylothorax, Dyspnea, Pleural effusion	ORPHA:3015
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Acrocyanosis, Purpura, Urticaria	ORPHA:343
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin	ORPHA:367
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Pulmonary edema, Dyspnea	OMIM:115197
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Moebius Syndrome	Respiratory distress	OMIM:157900
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Hemothorax, Nasal mucosa te...	OMIM:187300
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Cyanosis, Death in infancy	OMIM:617478
Craniofaciofrontodigital Syndrome	Premature skin wrinkling, Respiratory distress, Palmoplantar cutis laxa, Prominent superficial ve...	ORPHA:363705
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C...	OMIM:616749
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria	ORPHA:100050
Meckel Syndrome 14	Pneumothorax, Cyanosis, Pulmonary hypoplasia	OMIM:619879
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Recurrent lower respiratory tract infections, Exertional dyspnea, Hypoventi...	ORPHA:98915
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Exertional dyspnea, Death in childhood	OMIM:220110
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Pulmonary fibrosis	OMIM:612852
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Cyanosis	ORPHA:2326
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea	ORPHA:2707
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Cutis marmorata, Purpura, Acrocy...	ORPHA:183
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia	OMIM:607143
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis	OMIM:620067
Mogs-Cdg	Respiratory distress, Pulmonary edema, Apnea, Hypoventilation	ORPHA:79330
Diaphanospondylodysostosis	Respiratory distress, Pulmonary hypoplasia	OMIM:608022
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Cyanosis, Anomalous origin of one pulmonary ...	ORPHA:3384
Bacterial Toxic-Shock Syndrome	Pneumonia, Respiratory distress, Respiratory tract infection, Ecchymosis, Tachypnea	ORPHA:36234
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress	OMIM:619272
Unilateral Polymicrogyria	Apnea, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Achondroplasia	Respiratory distress, Death in infancy, Pulmonary hypoplasia	OMIM:100800
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Tarp Syndrome	Apnea, Cyanosis, Pulmonary hypoplasia	ORPHA:2886
Criss-Cross Heart	Cyanosis	ORPHA:1461
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Multiple Mitochondrial Dysfunctions Syndrome 7	Apnea, Cyanosis	OMIM:620423
Farber Disease	Respiratory distress, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary ...	ORPHA:333
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent ...	ORPHA:209905
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Death in childhood	OMIM:613848
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Cyan...	ORPHA:99125
Q Fever	Pneumonia, Respiratory distress, Pleural effusion, Abnormal pulmonary interstitial morphology, Pu...	ORPHA:781
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Kniest Dysplasia	Respiratory distress	OMIM:156550
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia	OMIM:616271
Arterial Tortuosity Syndrome	Respiratory distress, Pulmonary artery stenosis, Telangiectasia of the skin, Dyspnea, Prematurely...	ORPHA:3342
Cryptococcosis	Pneumonia, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, Dyspnea	ORPHA:1546
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Jaundice, Death in infancy	OMIM:617156
Mitochondrial Complex I Deficiency, Nuclear Type 1	Apnea, Cyanosis, Death in infancy	OMIM:252010
Histiocytoid Cardiomyopathy	Pulmonary edema, Tachypnea, Cyanosis	ORPHA:137675
Toxic Epidermal Necrolysis	Respiratory distress, Erythema, Abnormal pleura morphology, Recurrent respiratory infections	ORPHA:537
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Lujo Hemorrhagic Fever	Respiratory distress, Purpura, Atelectasis, Ecchymosis	ORPHA:319213
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Abnormal pattern of respiration, Irregular respiration	ORPHA:79139
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Respiratory distress, Interstitial pneumonitis, Recurrent respiratory infections, Urti...	ORPHA:37042
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Kasabach-Merritt Phenomenon	Respiratory distress, Purpura, Hypopnea, Petechiae	ORPHA:2330
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea	ORPHA:79241
Idiopathic Hypereosinophilic Syndrome	Angioedema, Respiratory distress, Cutis marmorata, Pleural effusion, Vasculitis in the skin, Dysp...	ORPHA:3260
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Bruising susceptibility, Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmonary hy...	ORPHA:536467
Familial Dysautonomia	Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections	ORPHA:1764
Infantile Krabbe Disease	Respiratory distress	ORPHA:206436
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress	ORPHA:2519
Cocaine Intoxication	Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary edema, Tachypnea, Pneumothorax, Hype...	ORPHA:90068
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections	OMIM:300968
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Nocardiosis	Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Pleuritis	ORPHA:31204
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis, Total anomalous pulmonary venous return, Bilateral trilobed lung	OMIM:306955
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory tract infection	ORPHA:308552
Poems Syndrome	Acrocyanosis, Pleural effusion, Plethora	ORPHA:2905
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Respiratory distress, Pleural effusion, Petechiae, Ecchymosis, Pulmonary edema, Dyspnea	ORPHA:340
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis	OMIM:223900
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Flushing	ORPHA:2131
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress	OMIM:217980
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel...	OMIM:214500
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Palmoplantar cutis laxa	OMIM:123790
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Respiratory distress, Fragile skin, Abnormal pulmonary interstitial morphology, Recurre...	OMIM:614748
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Mgat2-Cdg	Respiratory distress, Recurrent upper and lower respiratory tract infections	ORPHA:79329
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98794
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory distress, Respiratory tract infection, Exertional dyspnea, Orthopnea	ORPHA:365
Listeriosis	Respiratory distress, Jaundice, Pneumonia, Miscarriage	ORPHA:533
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Central hypoventilation, Cyanosis, Hypoventilation,...	ORPHA:293987
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Neuromuscular Oculoauditory Syndrome	Respiratory distress	OMIM:618733
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress	OMIM:183900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea	ORPHA:17
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:256810
Meier-Gorlin Syndrome 1	Respiratory distress, Emphysema, Death in infancy	OMIM:224690
Pfeiffer Syndrome Type 3	Respiratory distress	ORPHA:93260
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections	ORPHA:177907
Neuroblastoma	Respiratory distress	ORPHA:635
Pitt-Hopkins Syndrome	Hyperventilation, Acrocyanosis, Abnormal pattern of respiration	ORPHA:2896
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections	ORPHA:505248
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel...	ORPHA:79430
Koolen-De Vries Syndrome	Abnormality of hair texture, Hypopigmentation of hair	ORPHA:96169
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Respiratory distress, Pneumothorax, Fragile skin, Dyspnea	ORPHA:79404
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Aortopulmonary window, Exertional dyspnea, Hypoxemia	ORPHA:97214
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia	OMIM:305100
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress	ORPHA:255210
Dermatomyositis	Erythema, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Facial erythema, Telangiectasia ...	ORPHA:221
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Jaundice	ORPHA:79282
Syndromic Diarrhea	Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati...	ORPHA:84064
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia	OMIM:164310
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Coccidioidomycosis	Respiratory distress, Pneumonia, Exudative pleural effusion, Pleural empyema	ORPHA:228123
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia...	ORPHA:163746
Adnp Syndrome	Respiratory distress, Recurrent upper respiratory tract infections	ORPHA:404448
Shwachman-Diamond Syndrome 1	Respiratory distress	OMIM:260400
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections	OMIM:615273
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Tuberous Sclerosis Complex	Respiratory distress, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Generalized ab...	ORPHA:805
Congenital Alveolar Capillary Dysplasia	Respiratory distress	ORPHA:210122
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Postinfectious Vasculitis	Pneumonia, Palpable purpura, Cutis marmorata, Vasculitis in the skin, Recurrent streptococcus pne...	ORPHA:48435
Hutchinson-Gilford Progeria Syndrome	Premature skin wrinkling, Generalized abnormality of skin, Cyanosis, Exertional dyspnea, Prominen...	ORPHA:740
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Campomelic Dysplasia	Respiratory distress, Recurrent lower respiratory tract infections, Recurrent upper respiratory t...	OMIM:114290
Arboleda-Tham Syndrome	Respiratory distress, Recurrent aspiration pneumonia, Recurrent respiratory infections	OMIM:616268
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism	ORPHA:2719
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea	ORPHA:2554
Leptospirosis	Respiratory distress, Jaundice, Pulmonary hemorrhage, Pleural effusion	ORPHA:509
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Erythema, Dyspnea	ORPHA:2556
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi...	ORPHA:167
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98754
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis	OMIM:259900
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177901
Vici Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism	OMIM:242840
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia	ORPHA:798
Rubinstein-Taybi Syndrome 1	Respiratory distress, Recurrent upper respiratory tract infections, Respiratory tract infection	OMIM:180849
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis	ORPHA:416
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Degcags Syndrome	Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol...	OMIM:619488
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Pulmonary hypoplasia	ORPHA:83617
Aicardi-Goutières Syndrome	Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis	ORPHA:51
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring	ORPHA:466943
8Q24.3 Microdeletion Syndrome	Respiratory distress, Abnormal lung lobation	ORPHA:508488
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea	ORPHA:3206
Gitelman Syndrome	Respiratory distress	ORPHA:358
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc...	ORPHA:287
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Pneumonia, Generalized abnormality of skin	ORPHA:95455
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis	ORPHA:51608
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Pulmonary artery stenosis	ORPHA:2255
Ulbright-Hodes Syndrome	Respiratory distress, Pneumothorax, Pulmonary hypoplasia	ORPHA:3404
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair	ORPHA:818
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Recurrent upper and lower respiratory tract infections	ORPHA:480880
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Hypopi...	OMIM:219800
Hypermobile Ehlers-Danlos Syndrome	Apnea, Acrocyanosis, Bruising susceptibility	ORPHA:285
Coffin-Lowry Syndrome	Cutis marmorata, Acrocyanosis	OMIM:303600
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia	ORPHA:99646
Pmm2-Cdg	Respiratory distress, Abnormal subcutaneous fat tissue distribution, Aspiration pneumonia	ORPHA:79318
Alström Syndrome	Recurrent pneumonia, Recurrent upper respiratory tract infections, Respiratory distress, Dorsocer...	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 Tnrc6c

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 Tnrc6c.

No publications found that use IMPC mice or data for Tnrc6c.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tnrc6c^em1(IMPC)J	Indel	Mice
Tnrc6c^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tnrc6c^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tnrc6c^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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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