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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Thyroid Dyshormonogenesis 6
Congenital hypothyroidism, Hypothyroidism OMIM:607200
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Fatiguable weakness of proximal limb muscles, Cough, Respiratory failure, Dyspnea, Respiratory fa... ORPHA:90117
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Hypogonadism, Panhypopituitarism, Hypothyroidism, Reduced circulating prol... OMIM:262600
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Primary adrenal insufficiency, Hypogonadism, Type I diabetes mellitus, Abnorm... ORPHA:3143
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadism, Adrenal insufficiency, Delayed puberty, Central adrenal insufficiency OMIM:612079
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Adrenal hypoplasia, Adrenocorticotropic hormone d... OMIM:609734
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Neonatal death, Abnormal anterior horn cell mor... OMIM:611890
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Motor neuron atrophy, Abnormal respiratory system physiolog... ORPHA:803
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Adrenal insufficiency, Death in infancy, Pancreatitis OMIM:619386
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Polymicrogyria OMIM:618291
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Immunodeficiency 54
Respiratory failure, Adrenal insufficiency, Adrenocorticotropic hormone excess, Respiratory insuf... OMIM:609981
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency OMIM:610127
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency, Degeneration of anterior horn cells OMIM:600333
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Hyper... OMIM:245400
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Decreased miniature endplate potentials, Orth... ORPHA:98913
Adrenal Hypoplasia, Congenital
Decreased circulating aldosterone level, Adrenal insufficiency, Hypogonadotropic hypogonadism, Ab... OMIM:300200
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency, Fatigable weakness of skeletal muscles ORPHA:370968
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Late inspirator... ORPHA:2302
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Central sleep apnea, Pachygyria, Respiratory failure ORPHA:168486
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Apnea, Death in infancy OMIM:617248
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Increased circulating procalcitonin concentration, Pneumonia, Tachypnea, Pneumothorax,... ORPHA:36238
Triple A Syndrome
Adrenal insufficiency, Respiratory insufficiency, Anterior hypopituitarism ORPHA:869
Hypoadrenocorticism, Familial
Adrenal insufficiency, Apnea, Adrenal hypoplasia OMIM:240200
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Acute infecti... ORPHA:723
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Apnea, Pulmonary arte... OMIM:265120
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Tachypnea, Degeneration of anterior horn cells, Ventilator dependence with inability to wean, Hyp... OMIM:604320
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Acute pancreatitis, Respiratory failure, D... ORPHA:178320
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Pituitary hypothyroidism, Gonadotropin deficiency, Hyperinsulinemi... ORPHA:71526
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Polymicrogyria, Respiratory insufficiency OMIM:615330
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Diabetic ketoacidosis, Pancreatitis, Abnormal blood gas level, Respiratory ... ORPHA:70578
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Hyperekplexia 4
Respiratory failure OMIM:618011
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:613954
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Combined Oxidative Phosphorylation Deficiency 34
Hypogonadism, Primary adrenal insufficiency OMIM:617872
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness, Hypergonadotropic... ORPHA:352447
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Respiratory failure, Neonatal respiratory distress OMIM:616867
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia OMIM:307030
Vacterl Association With Hydrocephalus
Respiratory failure, Respiratory insufficiency, Stillbirth OMIM:276950
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism OMIM:614495
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy, Polymicrogyria OMIM:610678
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory failure, Hypercapnia, Respiratory insufficiency OMIM:267480
Scedosporiosis
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Cough, Pleu... ORPHA:449280
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the pituitary gland, Ad... ORPHA:91349
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough, Respiratory ... ORPHA:79126
Peripartum Cardiomyopathy
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Abnormality of thyroid physiology,... ORPHA:563
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Obstructive sleep apnea, Central sleep apnea ORPHA:70472
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Increased circulating renin level, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system,... OMIM:177735
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Apnea OMIM:618233
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism OMIM:264350
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest, Acute pancreatitis... ORPHA:26791
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Primary adren... OMIM:240300
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hyperinsulinemia ORPHA:363400
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology ORPHA:43
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity OMIM:603689
Myopathy, Centronuclear, X-Linked
Respiratory failure, Neonatal respiratory distress, Respiratory failure requiring assisted ventil... OMIM:310400
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Neonatal respiratory distress, Congenital hypothyroidism, Pulmonary arterial ... ORPHA:209905
Immunodeficiency, Common Variable, 10
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Recurrent pneumonia, A... OMIM:615577
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Primary adrenal insufficiency ORPHA:44
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Snakebite Envenomation
Respiratory failure, Epistaxis, Respiratory paralysis, Hypopituitarism ORPHA:449285
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Dyspnea ORPHA:99931
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Diabetes mellitus, Respiratory insufficiency OMIM:613845
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea OMIM:606071
Wolman Disease
Adrenal insufficiency, Adrenal calcification ORPHA:75233
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Ane Syndrome
Motor neuron atrophy, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism... ORPHA:157954
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Decreased circulating aldosterone level, Precocious puberty i... ORPHA:90793
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Pulmonary Alveolar Microlithiasis
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... ORPHA:60025
Nephrotic Syndrome, Type 14
Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Congenital Isolated Acth Deficiency
Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:199296
Muscular Dystrophy, Duchenne Type
Respiratory failure, Hypoventilation, Respiratory insufficiency OMIM:310200
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... ORPHA:244
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Flynn-Aird Syndrome
Type II diabetes mellitus, Primary adrenal insufficiency, Abnormality of the thyroid gland ORPHA:2047
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Adrenal insufficiency, Congenital hypothyroidism, Decrea... ORPHA:361
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Xp21 Deletion Syndrome
Hypogonadotropic hypogonadism, Apneic episodes in infancy, Adrenal insufficiency, Primary adrenal... ORPHA:261476
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Alg1-Cdg
Respiratory failure ORPHA:79327
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in infancy OMIM:617186
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormality of neuronal migration, Respiratory insufficiency, Apnea, Respiratory distress, Polymi... OMIM:608836
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Stridor ORPHA:444013
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Abnormality of the endocrine system, Pulmonary ... ORPHA:2905
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating renin level, Decreased circulating aldosterone level, Increased circulating... OMIM:610600
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax, Hypothyroidism ORPHA:445038
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... ORPHA:70
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Zellweger Syndrome
Death in infancy, Polymicrogyria, Respiratory insufficiency, Primary adrenal insufficiency ORPHA:912
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Central apnea,... ORPHA:98754
Myasthenia Gravis
Primary adrenal insufficiency, Hyperthyroidism, Abnormality of the thymus, Hashimoto thyroiditis,... ORPHA:589
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Beta-Thalassemia Intermedia
Adrenal insufficiency, Hypoparathyroidism, Pulmonary arterial hypertension, Hypogonadism, Diabete... ORPHA:231222
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism ORPHA:300298
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Central apnea,... ORPHA:98793
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Hypoparathyroidism, Respiratory insufficiency ORPHA:746
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Central apnea,... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Central apnea,... ORPHA:177901
Mercury Poisoning
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Dominant Beta-Thalassemia
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Hypopituitarism, Dy... ORPHA:231226
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556037
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Pachygyr... ORPHA:258
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Prolactinoma
Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hypogonadotropic hypogonad... ORPHA:2965
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion ORPHA:542323
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Death in infancy, Adrenal calcification OMIM:278000
Familial Hypoaldosteronism
Increased circulating renin level, Decreased circulating aldosterone level, Adrenal insufficiency ORPHA:427
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Abnormal size of pituitary gland, Decreased circulating c... ORPHA:95512
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Decreased circul... ORPHA:95513
Distal Monosomy 13Q
Primary adrenal insufficiency ORPHA:1590
Prader-Willi-Like Syndrome
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Central apnea,... ORPHA:398073
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... ORPHA:90791
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... ORPHA:556030
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Polymicrogyria, Agyria OMIM:616538
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Beta-Thalassemia Major
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Hypopituitarism, Dy... ORPHA:231214
Sheehan Syndrome
Central adrenal insufficiency, Abnormal size of pituitary gland, Decreased circulating cortisol l... ORPHA:91355
Nocardiosis
Productive cough, Pneumonia, Pneumothorax, Abnormality of the adrenal glands, Respiratory distres... ORPHA:31204
Prader-Willi Syndrome
Adrenal insufficiency, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Hyperinsulinemia... OMIM:176270
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Macrogyria ORPHA:280210
Poliomyelitis
Respiratory failure, Respiratory failure requiring assisted ventilation, Fatigable weakness of re... ORPHA:2912
Prader-Willi Syndrome
Central hypothyroidism, Central adrenal insufficiency, Perisylvian polymicrogyria, Obstructive sl... ORPHA:739
Renal Dysplasia-Limb Defects Syndrome
Maternal diabetes, Pneumothorax, Neonatal death, Respiratory distress, Respiratory failure OMIM:266910
Leigh Syndrome With Cardiomyopathy
Respiratory failure, Respiratory distress, Central hypoventilation, Apnea ORPHA:70474
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:308552
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Exertional dyspnea, ... ORPHA:365
Craniopharyngioma
Central adrenal insufficiency, Enlarged pituitary gland, Type II diabetes mellitus, Hypogonadotro... ORPHA:54595
Boutonneuse Fever
Respiratory failure ORPHA:83313
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Primary adrenal insufficiency, Hyperthyroidism, Thymoma, Hypothyroidis... OMIM:269200
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency OMIM:530000
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency OMIM:609015
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Tsh-Secreting Pituitary Adenoma
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... ORPHA:91347
Adrenomyeloneuropathy
Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotropic hormone excess, Primary ad... ORPHA:139399
Geleophysic Dysplasia 3
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea OMIM:617809
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Mirage Syndrome
Adrenal insufficiency, Aspiration pneumonia, Hypergonadotropic hypogonadism OMIM:617053
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Intercostal muscle weakness, Fatigable weakness of bulbar muscles, Hypercapnia, Respir... ORPHA:2020
Combined Oxidative Phosphorylation Deficiency 3
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:610505
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Abnormal respiratory system physiology, Pneumonia ORPHA:98905
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Hypogonadotropic hypogonadism, Pituitary hypothyroi... ORPHA:91350
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Bronchiectasis, D... ORPHA:293978
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Fatigable weakness of bulbar muscles, Respir... ORPHA:273
Congenital Tricuspid Valve Dysplasia
Tachypnea, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:555874
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Elevated circulating follicle stimulating hormone level,... ORPHA:289548
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Infantile Krabbe Disease
Respiratory failure, Respiratory distress ORPHA:206436
Addison Disease
Decreased circulating aldosterone level, Hypoparathyroidism, Androgen insufficiency, Hashimoto th... ORPHA:85138
Carney Triad
Adrenal overactivity, Pheochromocytoma, Adrenocortical adenoma, Paraganglioma ORPHA:139411
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure, Respiratory failure requiring assisted ventilation, Recurrent pneumonia ORPHA:496641
Otopalatodigital Syndrome, Type Ii
Respiratory failure, Respiratory insufficiency, Stillbirth OMIM:304120
Tbck-Related Intellectual Disability Syndrome
Central adrenal insufficiency, Respiratory insufficiency, Hyperthyroidism, Asthma, Hypothyroidism... ORPHA:488632
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Elevated circulating follicle stimulating hormone level,... ORPHA:168558
Riddle Syndrome
Pneumonia, Chronic sinusitis, Respiratory failure, Recurrent pneumonia, Restrictive ventilatory d... ORPHA:420741
Niemann-Pick Disease, Type C2
Respiratory failure, Respiratory insufficiency OMIM:607625
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Androgen insufficiency, Primary adrenal insufficiency, A... ORPHA:95409
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Decreased response to growth hormone stimulation test OMIM:616007
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Adrenocorticotropin receptor defect, Decreased circulati... OMIM:231550
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration ORPHA:506
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating ACTH level, Pituitary adenoma, Type I diabetes mellitus... ORPHA:199299
Arterial Tortuosity Syndrome
Respiratory failure, Respiratory distress, Dyspnea, Cardiorespiratory arrest ORPHA:3342
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Cough, Respiratory distress, Hyperhidrosis, Respiratory failure, Dyspnea, P... ORPHA:340
Bloom Syndrome
Chronic pulmonary obstruction, Pneumonia, Rhinitis, Diabetes mellitus, Respiratory failure ORPHA:125
46,Xy Partial Gonadal Dysgenesis
Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Streak ovary, Abs... ORPHA:251510
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Malignant Atrophic Papulosis
Respiratory failure, Pleural effusion ORPHA:679
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory failure, Apnea, Respiratory insufficiency, Death in infancy OMIM:252010
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Primary adrenal insufficiency, Decreased circulating cortisol level ORPHA:139396
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Decreased circulating aldosterone level, Increased serum test... ORPHA:90794
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
Pneumonia, Hypercapnia, Respiratory failure, Dyspnea, Respiratory failure requiring assisted vent... ORPHA:79138
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, I... ORPHA:786
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pheochromocytoma, Pituitary adenoma, Carcinoid tumor, Respiratory dis... ORPHA:805
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Respiratory failure, Recurrent pneumonia ORPHA:647
Acute Liver Failure
Adrenal insufficiency, Abnormal respiratory system physiology, Abnormal pattern of respiration, H... ORPHA:90062
Pearson Syndrome
Adrenal insufficiency, Hypoparathyroidism, Diabetes mellitus, Hypothyroidism, Exocrine pancreatic... ORPHA:699
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Tachypnea, Cough, Respiratory failure, Emphysema OMIM:613658
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Inappropriate antidiuretic hormone secretion, Epistaxis, Pulmonary arteria... ORPHA:99827
D-Bifunctional Protein Deficiency
Polymicrogyria, Primary adrenal insufficiency OMIM:261515
Ear-Patella-Short Stature Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Stridor, Pneumonia, Pneumothorax, Respiratory distress, Respiratory failure, Dyspnea ORPHA:79404
Listeriosis
Respiratory failure, Respiratory distress, Pneumonia ORPHA:533
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Restrictive ventilatory defect, Respiratory failure, Lissencephaly, Pulmonary arterial hypertension ORPHA:96334
Costello Syndrome
Respiratory insufficiency, Obstructive sleep apnea, Pneumothorax, Respiratory failure, Tracheomal... OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2556
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Primary adrenal insufficiency, Adrenal calcification ORPHA:275761
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure, Dyspnea, Abnormal calcium-phosphate regulating hormone level ORPHA:2636
Autosomal Recessive Polycystic Kidney Disease
Respiratory failure, Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax ORPHA:731
Koolen-De Vries Syndrome Due To A Point Mutation
Pineal cyst, Primary adrenal insufficiency, Hypothyroidism, Decreased response to growth hormone ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pineal cyst, Primary adrenal insufficiency, Hypothyroidism, Decreased response to growth hormone ... ORPHA:363958
Niemann-Pick Disease Type C
Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Pallister-Hall Syndrome
Abnormal prolactin level, Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, ... ORPHA:672
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Respiratory failure, Emphysema, Polymicrogyria, Simplified gyral pattern ORPHA:500150
Ulbright-Hodes Syndrome
Respiratory failure, Pneumothorax, Maternal diabetes, Respiratory distress ORPHA:3404
Microphthalmia, Syndromic 2
Adrenal insufficiency, Hypothyroidism OMIM:300166
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

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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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