Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

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

Download data as:  TSV  XLS

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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.

Eye Morphology

Images Ophthalmoscopy

102 Images


XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Slit Lamp

96 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection


8 Images

Electrocardiogram (ECG)

Waveform Image

1 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
Matching phenotypes Source
Pontocerebellar Hypoplasia Type 2
Impaired oropharyngeal swallow response, Apnea, Oral-pharyngeal dysphagia ORPHA:2524
Pontocerebellar Hypoplasia, Type 2D

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

Disease Similarity of
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia 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
Hemolytic anemia, Methemoglobinemia OMIM:200300
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Webbed neck, Macrocytic anemia, Increased mean co... OMIM:610629
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Perching Syndrome
Cyanosis, Dysphagia, Respiratory distress OMIM:617055
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... 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
Hypercalcemia, Anemia ORPHA:2668
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio 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
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Hypercalcemia, Anemia ORPHA:436
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Stillbirth OMIM:265880
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cyanosis, Respiratory distress OMIM:263000
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly ORPHA:100025
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Hypoxemia, Tachypnea, Cyanosis ORPHA:91359
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Laryngeal Abductor Paralysis
Cyanosis, Dysphagia OMIM:150260
High Altitude Pulmonary Edema
Anorexia, Hypoxemia, Tachypnea, Cyanosis ORPHA:330012
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia 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
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Cardiomyopathy, Dilated, 2H
Tachypnea, Neonatal death OMIM:620203
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Hyperparathyroidism, Neonatal Severe
Calcinosis, Anemia, Hypercalcemia, Splenomegaly, Hypophosphatemia OMIM:239200
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Hypophosphatasia, Infantile
Anemia, Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic... 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
Hypercalcemia, Hypophosphatemia ORPHA:99879
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Apnea, Neonatal death, Tachypnea, Cyanosis OMIM:265120
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Tachypnea, Cyanosis, Nasal flaring ORPHA:70587
Laryngotracheoesophageal Cleft
Choking episodes, Impaired oropharyngeal swallow response, Cyanosis ORPHA:2004
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Choanal Atresia
Choking episodes, Cyanosis, Respiratory distress ORPHA:137914
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia OMIM:612526
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Cryptogenic Organizing Pneumonia
Anorexia, Hypoxemia, Cyanosis, Respiratory distress ORPHA:1302
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Episodic hemolytic anemia ORPHA:251004
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Tachypnea, Polyphagia OMIM:620085
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Iron deficiency anemia, Hypophosphatemia ORPHA:89937
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Hypercalcemia, Eosinophilia ORPHA:199299
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Congenital Pulmonary Lymphangiectasia
Cyanosis, Respiratory distress ORPHA:2414
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia 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
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Multiple Myeloma
Anemia, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration ORPHA:29073
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Respiratory distress ORPHA:464453
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Tongue thrusting, Recurrent hand flapping, Impulsivity, Apnea, Motor stereotypy, Attention defici... OMIM:619580
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Primary Pulmonary Hypoplasia
Hypoxemia, Tachypnea, Apnea, Cyanosis ORPHA:2257
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Hypoxemia, Apnea, Neonatal death, Tachypnea, Cyanosis OMIM:610921
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Anemia OMIM:244460
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia OMIM:175500
Acute Adrenal Insufficiency
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ... ORPHA:95409
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Restrictive Dermopathy 2
Cyanosis, Respiratory distress OMIM:619793
Tricuspid Atresia
Cyanosis ORPHA:1209
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Tachypnea, Respiratory distress ORPHA:264675
Recurrent Respiratory Papillomatosis
Choking episodes, Tachypnea, Dysphagia, Respiratory distress ORPHA:60032
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Respiratory distress 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
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop... ORPHA:90362
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Hsd10 Disease, Infantile Type
Cyanosis, Paroxysmal bursts of laughter, Dysphagia, Restlessness ORPHA:391428
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Atypical Rett Syndrome
Agitation, Restrictive behavior, Tongue thrusting, Sudden episodic apnea, Stereotypical hand wrin... ORPHA:3095
X-Linked Agammaglobulinemia
Hypocalcemia, Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Acute Lung Injury
Hypoxemia, Tachypnea, Addictive alcohol use, Respiratory distress ORPHA:178320
Addison Disease
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ... ORPHA:85138
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Monosomy 13Q34
Hypercalcemia ORPHA:96168
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Anemia of inadequate production, Leukocytosis, Persistence of he... ORPHA:231222
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia ORPHA:476126
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Chiari Malformation Type Ii
Cyanosis, Dysphagia OMIM:207950
Congenital Myasthenic Syndrome
Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Choking episodes... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Choking episodes... ORPHA:98914
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Joubert Syndrome 7
Tachypnea, Central apnea, Episodic tachypnea OMIM:611560
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... ORPHA:31824
Dravet Syndrome
Obsessive-compulsive trait, Impulsivity, Cyanotic episode ORPHA:33069
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
N-Acetylglutamate Synthase Deficiency
Anorexia, Tachypnea, Aggressive behavior, Respiratory distress OMIM:237310
Acute Interstitial Pneumonia
Hypoxemia, Tachypnea, Cyanosis ORPHA:79126
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Anemia OMIM:127000
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega... ORPHA:37042
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Normochromic anemia, Hypercalcemia, Hypokalemia ORPHA:97282
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Holocarboxylase Synthetase Deficiency
Anorexia, Tachypnea, Respiratory distress ORPHA:79242
Hypercalcemia OMIM:171300
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Tachypnea OMIM:616414
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Respiratory distress, Death in infancy, Apnea, Cyanosis, Hypopnea OMIM:618426
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... ORPHA:247353
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Tachypnea, Cyanosis ORPHA:860
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Hypercalcemia, Acanthocytosis, Normochromic anemia ORPHA:97280
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... OMIM:601678
Congenital Heart Block
Cyanosis ORPHA:60041
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Apnea, Dysphagia, Episodic tachypnea ORPHA:79264
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Dysphagia, Episodic tachypnea ORPHA:163961
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis ORPHA:98913
Hypochromic microcytic anemia, Hypercalcemia ORPHA:97283
Osteopetrosis, Autosomal Recessive 5
Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos... OMIM:259720
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Cyanosis, Respiratory distress OMIM:610913
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis ORPHA:335
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Tachypnea, Respiratory distress OMIM:614299
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypocalcemia, Leukocytosis, Splenomegaly, Hypophosphatemia, Hypochromic an... ORPHA:289157
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Tachypnea, Addictive alcohol use, Respiratory distress ORPHA:36238
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Le... ORPHA:94093
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia, Aggressive behavior ORPHA:488627
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Tachypnea, Cyanosis ORPHA:555874
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased mean corpuscular hemogl... ORPHA:231226
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Double Outlet Right Ventricle
Tachypnea, Cyanosis ORPHA:3426
Tachypnea, Dysphagia, Respiratory distress 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
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me... ORPHA:231214
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Thrombocytosis, Iron deficiency anemia, Macrocytic anemia OMIM:212750
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Impulsivity, Apnea, Cyanosis OMIM:620423
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea OMIM:616501
Tetrasomy 5P
Cyanosis, Respiratory distress 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
Rh Deficiency Syndrome
Hypoxemia, Jaundice, Tachypnea, Miscarriage ORPHA:71275
Avian Influenza
Hypoxemia, Tachypnea, Miscarriage, Respiratory distress ORPHA:454836
Timothy Syndrome
Hypocalcemia OMIM:601005
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Sepsis In Premature Infants
Purpura, Jaundice, Petechiae, Nasal flaring, Cyanosis ORPHA:90051
Necrotizing Enterocolitis
Apnea, Cyanosis ORPHA:391673
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Hypoxemia, Tachypnea, Oxygen desaturation on exertion, Respiratory distress OMIM:610978
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Erythema 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
Tachypnea, Episodic respiratory distress, Cyanosis, Addictive alcohol use ORPHA:31826
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis OMIM:617239
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
Anemia, Increased T cell count, Leukopenia, Hypercalcemia, Thrombocytopenia, Eosinophilia, Hemoly... ORPHA:797
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea OMIM:615160
Hypercalcemia ORPHA:97278
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Complete Atrioventricular Septal Defect
Tachypnea, Cyanosis, Intercostal retractions ORPHA:1329
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Multifocal Atrial Tachycardia
Tachypnea ORPHA:3282
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia ORPHA:173
Sting-Associated Vasculopathy, Infantile-Onset
Cutis marmorata, Tachypnea, Telangiectasia, Erythema, Livedo reticularis OMIM:615934
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Propionic Acidemia
Tachypnea, Apnea OMIM:606054
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Citrullinemia Type I
Tachypnea ORPHA:247525
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Hypercalcemia ORPHA:97261
Joubert Syndrome 3
Central apnea, Episodic tachypnea 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
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, Hypoplastic sp... ORPHA:699
Esophageal Atresia
Respiratory distress, Dysphagia, Episodic respiratory distress, Cyanosis, Oral aversion ORPHA:1199
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Tachypnea, Death in infancy OMIM:201475
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly OMIM:617913
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Beta-Ketothiolase Deficiency
Anorexia, Tachypnea, Agitation, Oral aversion 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
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Double Outlet Left Ventricle
Tachypnea, Cyanosis ORPHA:3427
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly ORPHA:1655
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea OMIM:604320
Unilateral Polymicrogyria
Pseudobulbar paralysis, Apnea, Cyanosis ORPHA:268943
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Webb... ORPHA:124
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea OMIM:614857
Eosinophilic Granulomatosis With Polyangiitis
Purpura, Urticaria, Cutis marmorata, Dysphagia, Acrocyanosis ORPHA:183
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Tachypnea ORPHA:542323
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Criss-Cross Heart
Cyanosis ORPHA:1461
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Glycogen Storage Disease Of Heart, Lethal Congenital
Apnea, Cyanosis, Respiratory distress OMIM:261740
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Williams Syndrome
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... ORPHA:904
Serotonin Syndrome
Tachypnea, Agitation, Restlessness ORPHA:43116
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Increased LDL choles... ORPHA:330015
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia ORPHA:163979
Atrial Septal Defect, Ostium Primum Type
Tachypnea, Cyanosis ORPHA:99106
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Psoriasiform dermatitis, Hypocalcemic seizures ORPHA:2237
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Cyanosis, Death in infancy OMIM:252010
Pulmonary Alveolar Microlithiasis
Hypoxemia, Tachypnea, Cyanosis, Oxygen desaturation on exertion ORPHA:60025
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Jaundice, Tachypnea, Apnea ORPHA:20
Cartilage-Hair Hypoplasia
Hypocalcemia, Anemia, Neutropenia ORPHA:175
Osteopetrosis With Renal Tubular Acidosis
Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Elliptocy... ORPHA:2785
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Myasthenia Gravis
Dysphagia, Acrocyanosis ORPHA:589
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany 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
Vascular skin abnormality, Acrocyanosis ORPHA:349
Tarp Syndrome
Apnea, Cyanosis ORPHA:2886
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79443
Histiocytoid Cardiomyopathy
Tachypnea, Cyanosis ORPHA:137675
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Webbed neck, Macrocytic anemia, Increased mean co... OMIM:105650
Meckel Syndrome 14
Cyanosis OMIM:619879
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Splenomegaly, Anemia, Hypophosphatemia ORPHA:667
Congenital Tracheomalacia
Apnea, Intercostal retractions, Cyanosis ORPHA:95430
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Anemia, Hypocalcemic tetany ORPHA:93325
Joubert Syndrome 1
Central apnea, Hyperactivity, Self-mutilation, Episodic tachypnea, Aggressive behavior OMIM:213300
Gitelman Syndrome
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:358
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic anemia, Hypoc... ORPHA:83471
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Compulsive behaviors, Polyphagia, Self-injurious behavior, Cyanosis, Aggressive behavior ORPHA:293987
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:466650
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress ORPHA:348
Aortic Arch Interruption
Tachypnea, Cyanosis, Respiratory distress ORPHA:2299
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Tachypnea, Jaundice OMIM:615751
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Tachypnea ORPHA:217563
Cardiogenic Shock
Hypoxemia, Cyanosis ORPHA:97292
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... 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
Anorexia, Abnormal temper tantrums, Recurrent hand flapping, Compulsive behaviors, Tachypnea ORPHA:3008
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Sotos Syndrome
Acute lymphoblastic leukemia, Hypercalcemia ORPHA:821
Joubert Syndrome
Apnea, Episodic tachypnea ORPHA:475
Liver Disease, Severe Congenital
Anemia, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hyperalaninemia, Hypona... OMIM:619991
Hennekam Syndrome
Hypocalcemia, Splenomegaly, Lymphopenia ORPHA:2136
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Tachypnea ORPHA:423
Holocarboxylase Synthetase Deficiency
Tachypnea OMIM:253270
Poems Syndrome
Plethora, Acrocyanosis ORPHA:2905
Brachytelephalangic Chondrodysplasia Punctata
Tachypnea, Central apnea ORPHA:79345
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Lip telangiectasia, Miscarriage, Nasal mucosa tel... 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
Cyanosis, Respiratory distress OMIM:306955
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Lip telangiectasia, G... OMIM:600376
22Q11.2 Deletion Syndrome
Hypocalcemia, Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly ORPHA:567
Congenital Tracheal Stenosis
Cyanosis, Respiratory distress ORPHA:141127
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Conjunctival telangiectas... OMIM:610655
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis OMIM:223900
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Joubert Syndrome 2
Central apnea, Episodic tachypnea OMIM:608091
Joubert Syndrome 5
Central apnea, Episodic tachypnea, Aggressive behavior OMIM:610188
Pontocerebellar Hypoplasia Type 2
Impaired oropharyngeal swallow response, Apnea, Oral-pharyngeal dysphagia ORPHA:2524
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Postinfectious Vasculitis
Anorexia, Palpable purpura, Vasculitis in the skin, Cutis marmorata, Acrocyanosis ORPHA:48435
Cocaine Intoxication
Tachypnea, Agitation, Respiratory distress ORPHA:90068
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Facial erythema, V-sign, Cutaneous photosensitivity, Shawl sign, Telangiectasia of the skin, Dysp... ORPHA:221
Absence Of The Pulmonary Artery
Cyanosis, Hypocapnia ORPHA:980
Scorpion Envenomation
Tachypnea, Restlessness, Erythema, Purpura ORPHA:466677
Truncus Arteriosus
Tachypnea, Cyanosis ORPHA:3384
Smooth Muscle Dysfunction Syndrome
Tachypnea OMIM:613834
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Hepatosplenomegaly, Hypomagnesemia, Hemolytic anemia OMIM:619503
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea ORPHA:2754
Digeorge Syndrome
Anemia, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly OMIM:188400
Arima Syndrome
Polydipsia, Tachypnea 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
Generalized abnormality of skin, Prominent superficial blood vessels, Cyanosis, Premature skin wr... ORPHA:740
Eisenmenger Syndrome
Hypoxemia, Cyanosis, Respiratory distress 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
Charge Syndrome
Hypocalcemia, Webbed neck, Lymphopenia OMIM:214800
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Fragile skin, Ecchymosis, Acrocyanosis, Bruising susceptibility, Poo... ORPHA:287
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
Hemolytic anemia, Methemoglobinemia ORPHA:56
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Generalized Arterial Calcification Of Infancy
Cyanosis, Respiratory distress ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Congenital Total Pulmonary Venous Return Anomaly
Apneic episodes in infancy, Cyanosis, Respiratory distress ORPHA:99125
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Bruising susceptibility, Apnea, Acrocyanosis ORPHA:285
Johanson-Blizzard Syndrome
Hypocalcemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration OMIM:243800
Pontocerebellar Hypoplasia, Type 2D


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.

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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

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