banner
Genes Phenotypes Help, News, Blog

Gene: Sepsecs MGI:1098791

Log in to follow

Gene Summary

Name:
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
Synonyms:
SecS,  D5Ertd135e,  SLA

Order Alleles

IMPC Data Collections

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
preweaning lethality, complete penetrance Sepsecsem1(IMPC)Tcp HOM   Early adult 0.00
thick skin Sepsecsem1(IMPC)Tcp HET Early adult 0.00
embryonic lethality prior to organogenesis Sepsecsem1(IMPC)Tcp HOM   E9.5 0.00
decreased mean corpuscular hemoglobin Sepsecsem1(IMPC)Tcp HET Early adult 2.56×10-06
decreased mean corpuscular hemoglobin concentration Sepsecsem1(IMPC)Tcp HET   Early adult 9.77×10-06
increased circulating calcium level Sepsecsem1(IMPC)Tcp HET Early adult 5.65×10-05

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.

Eye Morphology

Images Ophthalmoscopy

102 Images

View images
Eye Morphology

Images Slit Lamp

96 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Electrocardiogram (ECG)

Waveform Image

1 Images

View images

Human diseases caused by Sepsecs 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.

The table below shows human diseases associated to Sepsecs by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pontocerebellar Hypoplasia Type 2
Apnea, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia ORPHA:2524
Pontocerebellar Hypoplasia, Type 2D
OMIM:613811

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Diamond-Blackfan Anemia 3
Webbed neck, Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, P... OMIM:610629
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Perching Syndrome
Respiratory distress, Dysphagia, Cyanosis OMIM:617055
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Apnea, Death in infancy OMIM:610992
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Rhabdoid Tumor
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:69077
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Pyknoachondrogenesis
Stillbirth OMIM:265880
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cyanosis OMIM:263000
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hypocalcemia ORPHA:100025
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hypoxemia ORPHA:91359
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
High Altitude Pulmonary Edema
Tachypnea, Hypoxemia, Cyanosis, Anorexia ORPHA:330012
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Breath-Holding Spells
Cyanosis OMIM:607578
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Cardiomyopathy, Dilated, 2H
Tachypnea, Neonatal death OMIM:620203
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia OMIM:241500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea OMIM:265120
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Laryngotracheoesophageal Cleft
Cyanosis, Choking episodes, Impaired oropharyngeal swallow response ORPHA:2004
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Choanal Atresia
Respiratory distress, Choking episodes, Cyanosis ORPHA:137914
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Cyanosis, Anorexia ORPHA:1302
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia ORPHA:251004
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Tachypnea OMIM:620085
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Hypercalcemia ORPHA:199299
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis ORPHA:2414
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Hypocalcemia OMIM:618440
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Neuralgic Amyotrophy
Acrocyanosis ORPHA:2901
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia ORPHA:29073
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Cyanosis ORPHA:464453
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Recurrent hand flapping, Cyanosis, Aggressive behavior, Attention deficit hyperactivity di... OMIM:619580
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Primary Pulmonary Hypoplasia
Hypoxemia, Tachypnea, Apnea, Cyanosis ORPHA:2257
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Hypoxemia OMIM:610921
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Anemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Acute Adrenal Insufficiency
Normocytic anemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulatin... ORPHA:95409
Albers-Schönberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Tricuspid Atresia
Cyanosis ORPHA:1209
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Hypoxemia ORPHA:264675
Recurrent Respiratory Papillomatosis
Respiratory distress, Choking episodes, Tachypnea, Dysphagia ORPHA:60032
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea OMIM:267450
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Hsd10 Disease, Infantile Type
Paroxysmal bursts of laughter, Restlessness, Dysphagia, Cyanosis ORPHA:391428
Atypical Rett Syndrome
Restrictive behavior, Bruxism, Inappropriate laughter, Sudden episodic apnea, Episodic tachypnea,... ORPHA:3095
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia ORPHA:47
Acute Lung Injury
Respiratory distress, Addictive alcohol use, Tachypnea, Hypoxemia ORPHA:178320
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Addison Disease
Normocytic anemia, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremia, Hyperka... ORPHA:85138
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia OMIM:259700
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Chiari Malformation Type Ii
Dysphagia, Cyanosis OMIM:207950
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
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Joubert Syndrome 7
Episodic tachypnea, Tachypnea, Central apnea OMIM:611560
Colchicine Poisoning
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... ORPHA:31824
Dravet Syndrome
Cyanotic episode, Obsessive-compulsive trait, Impulsivity ORPHA:33069
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Aggressive behavior, Tachypnea, Anorexia OMIM:237310
Acute Interstitial Pneumonia
Tachypnea, Hypoxemia, Cyanosis ORPHA:79126
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Psoriasiform dermatitis, Hypocalcemia, Autoimmune hemolytic anem... ORPHA:37042
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Anorexia ORPHA:79242
Pheochromocytoma
Hypercalcemia OMIM:171300
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea OMIM:616414
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis OMIM:618426
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia ORPHA:860
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Glucagonoma
Hypercalcemia, Acanthocytosis, Normochromic anemia ORPHA:97280
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Congenital Heart Block
Cyanosis ORPHA:60041
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Apnea, Dysphagia, Episodic tachypnea ORPHA:79264
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,... OMIM:259720
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Tachypnea, Hypoxemia, Cyanosis OMIM:610913
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
Asbestos Intoxication
Oxygen desaturation on exertion, Hypoxemia, Cyanosis ORPHA:2302
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hypocalcemic seiz... ORPHA:289157
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Joubert Syndrome 9
Episodic tachypnea, Apnea OMIM:612285
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Addictive alcohol use, Tachypnea, Hypoxemia ORPHA:36238
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Aggressive behavior, Dysphagia, Cyanosis ORPHA:488627
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Hypoxemia ORPHA:555874
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231226
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Tetanus
Respiratory distress, Tachypnea, Dysphagia ORPHA:3299
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Surfactant Metabolism Dysfunction, Pulmonary, 4
Tachypnea OMIM:300770
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Cyanosis, Agitation, Hyperactivity, Impulsivity OMIM:620423
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Tetrasomy 5P
Respiratory distress, Cyanosis ORPHA:3309
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea ORPHA:159
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Tachypnea, Death in childhood, Death in infancy OMIM:613320
Timothy Syndrome
Hypocalcemia OMIM:601005
Rh Deficiency Syndrome
Jaundice, Tachypnea, Hypoxemia, Miscarriage ORPHA:71275
Avian Influenza
Respiratory distress, Tachypnea, Hypoxemia, Miscarriage ORPHA:454836
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Sepsis In Premature Infants
Cyanosis, Petechiae, Jaundice, Nasal flaring, Purpura ORPHA:90051
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Tachypnea, Hypoxemia OMIM:610978
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Self-mutilation, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis ORPHA:444013
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea, Death in childhood OMIM:615838
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Ethylene Glycol Poisoning
Addictive alcohol use, Tachypnea, Cyanosis, Episodic respiratory distress ORPHA:31826
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis OMIM:617239
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Sarcoidosis
Hypercalcemia, Leukopenia, Increased T cell count, Eosinophilia, Thrombocytopenia, Anemia, Hemoly... ORPHA:797
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Ppoma
Hypercalcemia ORPHA:97278
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions, Cyanosis ORPHA:1329
Multifocal Atrial Tachycardia
Tachypnea ORPHA:3282
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Cutis marmorata, Telangiectasia, Tachypnea, Livedo reticularis OMIM:615934
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Citrullinemia Type I
Tachypnea ORPHA:247525
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia OMIM:235255
Grfoma
Hypercalcemia ORPHA:97261
Joubert Syndrome 3
Episodic tachypnea, Central apnea OMIM:608629
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Pearson Syndrome
Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenomegaly, Hypokalemia, Hypophosp... ORPHA:699
Esophageal Atresia
Respiratory distress, Cyanosis, Oral aversion, Episodic respiratory distress, Dysphagia ORPHA:1199
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea, Death in infancy OMIM:201475
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Beta-Ketothiolase Deficiency
Tachypnea, Agitation, Oral aversion, Anorexia ORPHA:134
Cardiocranial Syndrome, Pfeiffer Type
Episodic tachypnea ORPHA:2872
Pyruvate Dehydrogenase Deficiency
Tachypnea ORPHA:765
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia ORPHA:1655
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea OMIM:604320
Unilateral Polymicrogyria
Apnea, Cyanosis, Pseudobulbar paralysis ORPHA:268943
Diamond-Blackfan Anemia
Webbed neck, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence ... ORPHA:124
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea OMIM:614857
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Purpura, Dysphagia, Acrocyanosis, Urticaria ORPHA:183
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia ORPHA:542323
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Hypoxemia ORPHA:2038
Criss-Cross Heart
Cyanosis ORPHA:1461
Williams Syndrome
Hypercalcemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase con... ORPHA:904
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cyanosis OMIM:261740
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Serotonin Syndrome
Tachypnea, Restlessness, Agitation ORPHA:43116
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Lead Poisoning
Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, Increased LDL cholester... ORPHA:330015
Atrial Septal Defect, Ostium Primum Type
Tachypnea, Cyanosis ORPHA:99106
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia ORPHA:163979
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Cyanosis, Death in infancy OMIM:252010
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Psoriasiform dermatitis, Hypocalcemia ORPHA:2237
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Tachypnea, Hypoxemia, Cyanosis ORPHA:60025
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolytic anemia ORPHA:544482
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea, Anorexia ORPHA:20
Cartilage-Hair Hypoplasia
Anemia, Hypocalcemia, Neutropenia ORPHA:175
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Throm... ORPHA:2785
Thymoma
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis ORPHA:99867
Myasthenia Gravis
Acrocyanosis, Dysphagia ORPHA:589
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea ORPHA:2318
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Tarp Syndrome
Apnea, Cyanosis ORPHA:2886
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis ORPHA:137675
Meckel Syndrome 14
Cyanosis OMIM:619879
Diamond-Blackfan Anemia 1
Webbed neck, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell ad... OMIM:105650
Autosomal Recessive Malignant Osteopetrosis
Anemia, Splenomegaly, Hypophosphatemia, Hypocalcemia ORPHA:667
Congenital Tracheomalacia
Apnea, Cyanosis, Intercostal retractions ORPHA:95430
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia OMIM:613658
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Joubert Syndrome 1
Episodic tachypnea, Self-mutilation, Aggressive behavior, Central apnea, Hyperactivity OMIM:213300
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia ORPHA:358
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Cyanosis, Polyphagia, Aggressive behavior, Compulsive behaviors ORPHA:293987
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positiv... ORPHA:83471
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy ORPHA:348
Aortic Arch Interruption
Respiratory distress, Tachypnea, Cyanosis ORPHA:2299
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Tachypnea OMIM:615751
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Tachypnea ORPHA:217563
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Williams-Beuren Syndrome
Hypercalcemia OMIM:194050
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Biotinidase Deficiency
Tachypnea, Apnea OMIM:253260
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Recurrent hand flapping, Tachypnea, Anorexia, Compulsive behaviors ORPHA:3008
Sotos Syndrome
Acute lymphoblastic leukemia, Hypercalcemia ORPHA:821
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Joubert Syndrome
Episodic tachypnea, Apnea ORPHA:475
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Hypocalcemia, Hyper... OMIM:619991
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Hennekam Syndrome
Lymphopenia, Hypocalcemia, Splenomegaly ORPHA:2136
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Holocarboxylase Synthetase Deficiency
Tachypnea OMIM:253270
Poems Syndrome
Acrocyanosis, Plethora ORPHA:2905
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea ORPHA:79345
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... OMIM:187300
Coronary Arterial Fistula
Tachypnea ORPHA:2041
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Apnea ORPHA:397715
Pitt-Hopkins Syndrome
Self-injurious behavior, Aggressive behavior, Acrocyanosis ORPHA:2896
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis OMIM:306955
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia, Splenomegaly ORPHA:567
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis ORPHA:141127
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate... OMIM:610655
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Joubert Syndrome 2
Episodic tachypnea, Central apnea OMIM:608091
Joubert Syndrome 5
Aggressive behavior, Central apnea, Episodic tachypnea OMIM:610188
Pontocerebellar Hypoplasia Type 2
Apnea, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia ORPHA:2524
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Postinfectious Vasculitis
Palpable purpura, Anorexia, Cutis marmorata, Vasculitis in the skin, Acrocyanosis ORPHA:48435
Cocaine Intoxication
Respiratory distress, Tachypnea, Agitation ORPHA:90068
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Dermatomyositis
Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Facial erythema, Telangiectasia of the ... ORPHA:221
Absence Of The Pulmonary Artery
Hypocapnia, Cyanosis ORPHA:980
Scorpion Envenomation
Erythema, Tachypnea, Restlessness, Purpura ORPHA:466677
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Smooth Muscle Dysfunction Syndrome
Tachypnea OMIM:613834
Orofaciodigital Syndrome Type 6
Episodic tachypnea, Apnea ORPHA:2754
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Hemolytic anemia, Hypocalcemia, Hypomagnesemia OMIM:619503
Digeorge Syndrome
Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Anemia OMIM:188400
Arima Syndrome
Tachypnea, Polydipsia OMIM:243910
Goodpasture Syndrome
Tachypnea, Cyanosis OMIM:233450
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Death in childhood OMIM:618278
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... ORPHA:740
Eisenmenger Syndrome
Respiratory distress, Hypoxemia, Cyanosis ORPHA:97214
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Aicardi-Goutières Syndrome
Prolonged neonatal jaundice, Cutis marmorata, Acrocyanosis ORPHA:51
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea ORPHA:415
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc... ORPHA:287
Charge Syndrome
Webbed neck, Lymphopenia, Hypocalcemia OMIM:214800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia OMIM:620330
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Tachypnea, Dysphagia, Death in infancy OMIM:220111
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Cyanosis, Apneic episodes in infancy ORPHA:99125
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis, Bruising susceptibility ORPHA:285
Johanson-Blizzard Syndrome
Splenomegaly, Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Pontocerebellar Hypoplasia, Type 2D
OMIM:613811

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 Sepsecs

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 Sepsecs.

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

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
Sepsecstm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sepsecstm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sepsecsem1(IMPC)Tcp Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter