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Gene: Cadps MGI:1350922

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Ca2+-dependent secretion activator
Synonyms:
CAPS1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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.

Phenotype associated images not available

Human diseases caused by Cadps mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency OMIM:618328
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,... ORPHA:90117
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of bulbar muscles, Dyspnea, Motor neuron atroph... ORPHA:803
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Paucity... OMIM:611890
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Adrenal insufficiency, Pancreatitis OMIM:619386
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Immunodeficiency 54
Respiratory failure, Adrenal insufficiency, Respiratory insufficiency, Adrenocorticotropic hormon... OMIM:609981
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Fatigable... ORPHA:98913
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Hyperhidrosis, Respir... OMIM:245400
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology, Respira... ORPHA:2590
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency, Fatigable weakness of skeletal muscles ORPHA:370968
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Hypoadrenocorticism, Familial
Adrenal insufficiency, Apnea, Adrenal hypoplasia OMIM:240200
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency, Respiratory insufficiency ORPHA:869
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Tachypne... ORPHA:36238
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... ORPHA:2302
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Tachypnea, Cough OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... OMIM:608647
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Hyperhidrosis, Degeneration of anterior horn cells, Respiratory failure, Inspiratory s... OMIM:604320
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Pachygyria, Apnea, Respiratory failure ORPHA:168486
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Hyperhidrosis, Resp... OMIM:614299
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure OMIM:616867
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Hyperekplexia 4
Respiratory failure OMIM:618011
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... ORPHA:178320
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Polymicrogyria, Respiratory insufficiency OMIM:615330
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Polymicrogyria OMIM:610678
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death, Pachygyria OMIM:614922
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Hypergonadotropic... ORPHA:352447
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism OMIM:264350
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ... OMIM:177735
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Scedosporiosis
Bronchial breath sound, Sinusitis, Diabetes mellitus, Pneumonia, Abnormal respiratory system phys... ORPHA:449280
Peripartum Cardiomyopathy
Orthopnea, Diabetes mellitus, Abnormality of thyroid physiology, Crackles, Dyspnea, Asthma, Respi... ORPHA:563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure, Pachygyria OMIM:606612
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level ORPHA:43
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Dyspnea, Cardiorespiratory arrest, Gray matter heterotopia, Restrictive venti... ORPHA:26791
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Liddle Syndrome 2
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Abnormality of neuronal migration ORPHA:44
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia ORPHA:363400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... OMIM:240300
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Snakebite Envenomation
Hypopituitarism, Respiratory paralysis, Epistaxis, Respiratory failure ORPHA:449285
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory failure, Respiratory distress OMIM:620166
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Asthma, Recurrent pneumonia, Central adren... OMIM:615577
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Perisylvian polymicrogyria, Respiratory insufficiency due to ... OMIM:618291
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Neonatal resp... ORPHA:209905
Wolman Disease
Adrenal insufficiency, Adrenal calcification ORPHA:75233
Idiopathic Pulmonary Hemosiderosis
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough ORPHA:99931
Achalasia-Addisonianism-Alacrima Syndrome
Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ... OMIM:231550
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis OMIM:620296
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... ORPHA:90793
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Diabetes mellitus, Respiratory insufficiency OMIM:613845
Alg1-Cdg
Respiratory failure ORPHA:79327
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Respiratory failure ORPHA:1194
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Aa Amyloidosis
Hypothyroidism, Adrenal insufficiency ORPHA:85445
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus ORPHA:2047
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Apneic episodes in infancy, Hypogonadotropic hypogonadism, Adrenal... ORPHA:261476
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... ORPHA:244
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Reni Syndrome
Hypogonadism, Hypothyroidism, Adrenal insufficiency OMIM:617575
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Abnormality of neuronal migration, Respir... OMIM:608836
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax, Hypothyroidism ORPHA:445038
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena... ORPHA:199296
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Pulmonary arterial hy... ORPHA:231222
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Respiratory insufficiency due to muscle w... ORPHA:2905
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Adrenal insufficiency ORPHA:300298
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Zellweger Syndrome
Death in infancy, Polymicrogyria, Primary adrenal insufficiency, Respiratory insufficiency ORPHA:912
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Dyspnea, Adrenal insufficiency, Delayed puberty, Hypopitui... ORPHA:231226
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hor... ORPHA:98754
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Respiratory failure, Respiratory insufficiency ORPHA:746
Cholesteryl Ester Storage Disease
Death in infancy, Adrenal insufficiency, Adrenal calcification OMIM:278000
Myasthenia Gravis
Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Abnormal thymus morphology, Hashimoto th... ORPHA:589
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556037
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hor... ORPHA:98793
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Familial Hypoaldosteronism
Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating renin level ORPHA:427
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hor... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hor... ORPHA:177901
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Macrogyria ORPHA:280210
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... ORPHA:258
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Adrenal insufficiency, Hypohidrosis OMIM:615510
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:91355
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Mirage Syndrome
Aspiration pneumonia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Adrenal insufficiency OMIM:617053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Polymicrogyria, Agyria OMIM:616538
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Dysgyria OMIM:620327
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Dyspnea, Adrenal insufficiency, Delayed puberty, Hypopitui... ORPHA:231214
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Poliomyelitis
Fatigable weakness of respiratory muscles, Respiratory failure requiring assisted ventilation, Re... ORPHA:2912
Boutonneuse Fever
Respiratory failure ORPHA:83313
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Th... ORPHA:31204
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency OMIM:530000
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... OMIM:201810
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Prader-Willi Syndrome
Hypoventilation, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... OMIM:176270
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... OMIM:269200
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... ORPHA:365
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... ORPHA:139399
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Fatigable weakness of bulbar muscl... ORPHA:2020
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Diabetes mellitus, Hypergonadotropic hypogona... ORPHA:273
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... ORPHA:289548
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma ORPHA:139411
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplas... ORPHA:85138
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Asthma, Respiratory insuf... ORPHA:488632
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Riddle Syndrome
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... ORPHA:420741
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... ORPHA:90794
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insuff... ORPHA:227982
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration ORPHA:506
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Primary adrenal insufficiency, Increase... ORPHA:95409
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest ORPHA:3342
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Decreased circulating ACTH concentratio... ORPHA:199299
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... OMIM:202010
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Hyperhidrosis, Respiratory failure, Cough, P... ORPHA:340
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Xerostomia, Primary adrenal insufficiency, Thymoma, Anterior pitu... ORPHA:227990
Bloom Syndrome
Diabetes mellitus, Pneumonia, Chronic pulmonary obstruction, Respiratory failure, Rhinitis ORPHA:125
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood OMIM:618278
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... ORPHA:251510
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency ORPHA:139396
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:252010
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Abetalipoproteinemia
Respiratory failure, Hypothyroidism ORPHA:14
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... ORPHA:79138
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Adrenal insufficiency, Chronic pancreatitis OMIM:307030
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test OMIM:616007
Tuberous Sclerosis Complex
Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Res... ORPHA:805
Joubert Syndrome 21
Dyspnea, Respiratory failure, Chronic sinusitis, Apnea OMIM:615636
Listeriosis
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia ORPHA:533
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Adr... ORPHA:699
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus OMIM:617666
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent pneumonia, Abnormality of neuronal migration ORPHA:647
D-Bifunctional Protein Deficiency
Polymicrogyria, Primary adrenal insufficiency OMIM:261515
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Death in infancy, Respiratory failure OMIM:300868
Acute Liver Failure
Abnormal respiratory system physiology, Adrenal insufficiency, Hypocapnia, Abnormal pattern of re... ORPHA:90062
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema OMIM:613658
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Epistaxis, Orchitis, Hyperhidrosis, Adrenal insufficiency, Inappropriate anti... ORPHA:99827
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure ORPHA:79404
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Restrictive ventilatory defect, Respiratory failure, Lissencephaly, Pulmonary arteri... ORPHA:96334
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Primary adrenal insuff... ORPHA:363958
Costello Syndrome
Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2556
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Abnormal circulating calcium-phosphate regulating hormone concentration, Respiratory fai... ORPHA:2636
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax ORPHA:731
Pallister-Hall Syndrome
Adrenal hypoplasia, Precocious puberty, Adrenocorticotropic hormone deficiency, Primary adrenal i... ORPHA:672
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Niemann-Pick Disease Type C
Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Polymicrogyria, Simplified gyral pattern, Emphysema ORPHA:500150
Microphthalmia, Syndromic 2
Hypothyroidism, Adrenal insufficiency OMIM:300166
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Maternal diabetes ORPHA:3404
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:304120
Orofaciodigital Syndrome Type 4
Primary adrenal insufficiency ORPHA:2753

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 Cadps

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 Cadps.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Synaptic Vesicle Priming Protein CAPS-1 Shapes the Adaptation of Sensory Evoked Responses in Mouse Visual Cortex. Cell reports (March 2020) Cadpstm1c(EUCOMM)Hmgu Cadpstm1a(EUCOMM)Hmgu 32160535

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
Cadpstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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