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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
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Hyperthyroxinemia, Familial Dysalbuminemic
Euthyroid hyperthyroxinemia OMIM:615999
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Pituitary Hormone Deficiency, Combined, 4
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypothyroidism OMIM:262700
Hypersecretion Of Adrenal Androgens, Familial
Adrenal overactivity, Premature pubarche, Increased circulating androgen concentration OMIM:145295
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency, Decreased circulating cortisol level OMIM:103230
Thyroid Dyshormonogenesis 6
Hypothyroidism, Congenital hypothyroidism OMIM:607200
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:253300
Pituitary Hormone Deficiency, Combined, 2
Adrenal insufficiency, Reduced circulating prolactin concentration, Panhypopituitarism, Hypothyro... OMIM:262600
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess OMIM:613743
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Primary adrenal insufficien... ORPHA:3143
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Delayed puberty, Hypogonadism OMIM:612079
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Fatigable weakness of swallowing muscles, Xerostomia, Abnormal res... ORPHA:803
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology, R... OMIM:611890
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Respiratory failure, Pancreatitis, Death in infancy OMIM:619386
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Respiratory failure, Polymicrogyria OMIM:618291
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Immunodeficiency 54
Adrenal insufficiency, Respiratory insufficiency, Adrenocorticotropic hormone excess, Respiratory... OMIM:609981
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Respiratory insufficiency, Decreased miniature endplate po... OMIM:616321
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Reduced vital capacity, Orthopnea, Restrictive ventilatory de... ORPHA:98913
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:228940
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Neonatal respira... OMIM:245400
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Respiratory failure, Resp... ORPHA:2590
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Fatigable weakness of skeletal muscles ORPHA:370968
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... OMIM:300200
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Respiratory failure, Death in infancy OMIM:616277
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism OMIM:145260
Arthrogryposis Multiplex Congenita 6
Death in childhood, Respiratory failure, Neonatal death, Death in infancy OMIM:619334
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Neonatal respiratory distress, Pachygyria, Respiratory failure ORPHA:168486
Triple A Syndrome
Adrenal insufficiency, Respiratory insufficiency, Anterior hypopituitarism ORPHA:869
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:614299
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Apnea 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
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... ORPHA:2302
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dependence with i... OMIM:604320
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... OMIM:608647
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
8P23.1 Duplication Syndrome
Adrenal insufficiency ORPHA:251076
Acute Lung Injury
Respiratory distress, Tachypnea, Acute pancreatitis, Pneumonia, Hypoxemia, Dyspnea, Respiratory f... ORPHA:178320
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Polymicrogyria OMIM:615330
Hyperekplexia 4
Respiratory failure OMIM:618011
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pancreatitis, Diabetic ketoacidosis, Pneumonia, Hypoxemia, Dyspnea, Res... ORPHA:70578
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Central Hypoventilation Syndrome, Congenital, 3
Central hypoventilation, Apnea, Respiratory failure OMIM:619483
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Abnormal cortical gyration OMIM:616867
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hypogonadism OMIM:617872
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Dyspnea, Respiratory failure, Respiratory insufficiency due to mu... ORPHA:352447
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia OMIM:307030
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Respiratory failure 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
Non-Functioning Pituitary Adenoma
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... ORPHA:91349
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Scedosporiosis
Sinusitis, Pleural empyema, Cough, Pneumonia, Diabetes mellitus, Abnormal respiratory system phys... ORPHA:449280
Peripartum Cardiomyopathy
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Pulmonary arterial hypertension, Diabetes mellit... ORPHA:563
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Central sleep apnea, Obstructive sleep apnea ORPHA:70472
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Mitochondrial Complex I Deficiency, Nuclear Type 10
Central hypoventilation, Apnea, Respiratory failure OMIM:618233
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism OMIM:264350
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Leigh Syndrome
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure OMIM:256000
Acute Interstitial Pneumonia
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, Bronchiect... ORPHA:79126
Multiple Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness of neck muscles, Gray matter heterotopia, Acute pancreatitis, Restrictive vent... ORPHA:26791
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
X-Linked Adrenoleukodystrophy
Adrenal insufficiency, Increased circulating ACTH level, Abnormality of adrenal physiology ORPHA:43
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Respiratory failure ORPHA:363400
Liddle Syndrome 2
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:618114
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Decreased circulating aldost... OMIM:240300
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Primary adrenal insufficiency ORPHA:44
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity OMIM:603689
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Respiratory distress, Asthma, Abnormality of the thyroid gland, Thyroid dysge... ORPHA:209905
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism OMIM:614496
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Immunodeficiency, Common Variable, 10
Asthma, Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abn... OMIM:615577
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Wolman Disease
Adrenal insufficiency, Adrenal calcification ORPHA:75233
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Diabetes mellitus OMIM:613845
Idiopathic Pulmonary Hemosiderosis
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure ORPHA:99931
Snakebite Envenomation
Epistaxis, Hypopituitarism, Respiratory failure, Respiratory paralysis ORPHA:449285
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Intercostal muscle weakness, Respiratory failure, Obstructive sleep apnea OMIM:606071
Ane Syndrome
Decreased serum testosterone concentration, Decreased response to growth hormone stimulation test... ORPHA:157954
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Death in childhood, Respiratory failure, Tachypnea OMIM:615838
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Decreased circulating aldosterone level, Precocious pub... ORPHA:90793
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypogonadism OMIM:617575
Muscular Dystrophy, Duchenne Type
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... OMIM:310200
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... ORPHA:199296
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Fatigable weakne... ORPHA:60025
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy ORPHA:1194
Aa Amyloidosis
Adrenal insufficiency, Hypothyroidism ORPHA:85445
Flynn-Aird Syndrome
Primary adrenal insufficiency, Abnormality of the thyroid gland, Type II diabetes mellitus ORPHA:2047
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Xp21 Deletion Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Apneic episo... ORPHA:261476
Primary Ciliary Dyskinesia
Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive cough, Neonatal res... ORPHA:244
Alg1-Cdg
Respiratory failure ORPHA:79327
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... ORPHA:361
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory insufficiency, Polymicrogyria, Death in infancy, Neonatal respiratory distress... OMIM:608836
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Poems Syndrome
Abnormality of the endocrine system, Increased circulating prolactin concentration, Primary adren... ORPHA:2905
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation, Neonatal respira... ORPHA:70
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Pneumothorax, Respiratory failure ORPHA:445038
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... ORPHA:98754
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... OMIM:220110
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... OMIM:615512
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, Decreased circulating T4 concentration, Precocious puberty, Central a... ORPHA:177901
Niemann-Pick Disease, Type C2
Respiratory insufficiency, Death in childhood, Death in infancy, Neonatal respiratory distress, R... OMIM:607625
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism ORPHA:300298
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Zellweger Syndrome
Primary adrenal insufficiency, Respiratory insufficiency, Death in infancy, Polymicrogyria ORPHA:912
Beta-Thalassemia Intermedia
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Diabetes mellitus, Pulmonary arterial ... ORPHA:231222
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure OMIM:602088
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Myasthenia Gravis
Hyperthyroidism, Primary adrenal insufficiency, Abnormality of the thymus, Hashimoto thyroiditis,... ORPHA:589
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Death in infancy, Adrenal calcification OMIM:278000
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Respiratory insufficiency, Respiratory failure ORPHA:746
Prader-Willi-Like Syndrome
Perisylvian polymicrogyria, Abnormality of the endocrine system, Precocious puberty, Decreased ci... ORPHA:398073
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Dy... ORPHA:231226
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556037
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Death in childhood, Respiratory failure OMIM:619847
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Prolactinoma
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... ORPHA:2965
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia ORPHA:98905
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea ORPHA:542323
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in childhood, Bradypnea, Respiratory failure OMIM:617186
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95512
Familial Hypoaldosteronism
Adrenal insufficiency, Decreased circulating aldosterone level, Increased circulating renin level ORPHA:427
Panhypophysitis
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... ORPHA:95513
Distal Monosomy 13Q
Primary adrenal insufficiency ORPHA:1590
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pachygyria, Respiratory insufficiency, Lissencephaly, Aspiration, Hypoventilation, Intercostal mu... ORPHA:258
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... ORPHA:90791
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:177200
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556030
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Agyria, Respiratory failure, Polymicrogyria OMIM:616538
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Macrogyria ORPHA:280210
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure ORPHA:3226
Prader-Willi Syndrome
Perisylvian polymicrogyria, Precocious puberty, Central adrenal insufficiency, Small pituitary gl... ORPHA:739
Sheehan Syndrome
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... ORPHA:91355
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, Hypothyroidism, Delayed puberty, Diabetes mellitus, Dy... ORPHA:231214
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... ORPHA:308552
Nocardiosis
Respiratory distress, Nonproductive cough, Abnormality of the adrenal glands, Pneumothorax, Produ... ORPHA:31204
Alacrima, Achalasia, And Mental Retardation Syndrome
Adrenal insufficiency, Hypohidrosis, Neonatal respiratory distress OMIM:615510
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Respiratory failure, Central hypoventilation ORPHA:70474
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Maternal diabetes, Neonatal death, Pneumothorax, Respiratory failure OMIM:266910
Poliomyelitis
Fatigable weakness of respiratory muscles, Respiratory failure, Respiratory failure requiring ass... ORPHA:2912
Craniopharyngioma
Sleep apnea, Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, ... ORPHA:54595
Boutonneuse Fever
Respiratory failure ORPHA:83313
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Kearns-Sayre Syndrome
Hypoparathyroidism, Primary adrenal insufficiency, Diabetes mellitus OMIM:530000
Prader-Willi Syndrome
Adrenal insufficiency, Sleep apnea, Precocious puberty, Type II diabetes mellitus, Hyperinsulinem... OMIM:176270
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Fatigable weakness of sw... ORPHA:365
Tsh-Secreting Pituitary Adenoma
Central adrenal insufficiency, Increased circulating prolactin concentration, Euthyroid hyperthyr... ORPHA:91347
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Respiratory failure OMIM:609015
Severe Congenital Nemaline Myopathy
Respiratory failure ORPHA:171430
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Hypothyro... OMIM:269200
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Mirage Syndrome
Hypergonadotropic hypogonadism, Aspiration pneumonia, Adrenal insufficiency OMIM:617053
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... ORPHA:91350
Adrenomyeloneuropathy
Adrenal insufficiency, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Adrenoc... ORPHA:139399
Adrenoleukodystrophy
Primary adrenal insufficiency, Hypogonadism OMIM:300100
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Congenital Fiber-Type Disproportion Myopathy
Weakness of muscles of respiration, Aspiration pneumonia, Hypercapnia, Fatigable weakness of bulb... ORPHA:2020
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level OMIM:218030
Steinert Myotonic Dystrophy
Secondary hyperparathyroidism, Testicular atrophy, Hyperinsulinemia, Decreased serum testosterone... ORPHA:273
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Death in childhood, Respiratory failure OMIM:610505
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea ORPHA:555874
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... ORPHA:293978
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure, Recurrent pneumonia, Respiratory failure requiring assisted ventilation ORPHA:496641
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... ORPHA:289548
Addison Disease
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Decreased circulating corti... ORPHA:85138
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal overactivity ORPHA:139411
Tbck-Related Intellectual Disability Syndrome
Asthma, Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Hyp... ORPHA:488632
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Stillbirth, Respiratory failure OMIM:304120
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure OMIM:618329
Riddle Syndrome
Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive ventilatory defect, Pneu... ORPHA:420741
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, Decreased circulatin... ORPHA:168558
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure OMIM:617301
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Increased serum testosterone level, Decreased circulating a... ORPHA:90794
Leigh Syndrome
Abnormal pattern of respiration, Respiratory failure ORPHA:506
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Respiratory failure OMIM:259720
Acute Adrenal Insufficiency
Decreased circulating aldosterone level, Decreased circulating cortisol level, Increased circulat... ORPHA:95409
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Decreased circulating aldosterone level, Adrenocorticotropi... OMIM:231550
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... OMIM:202010
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... ORPHA:199299
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure ORPHA:3342
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Cough, Respiratory failure, Pneumonia, Pleural effusion, Dyspnea, Epistaxis... ORPHA:340
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Death in childhood, Respiratory failure, Tachypnea OMIM:618278
46,Xy Partial Gonadal Dysgenesis
Adrenal insufficiency, Decreased serum testosterone concentration, Streak ovary, Hypergonadotropi... ORPHA:251510
Malignant Atrophic Papulosis
Respiratory failure, Pleural effusion ORPHA:679
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:252010
Bloom Syndrome
Chronic pulmonary obstruction, Pneumonia, Diabetes mellitus, Rhinitis, Respiratory failure ORPHA:125
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Primary adrenal insufficiency, Male hypogonadism ORPHA:139396
Bickerstaff Brainstem Encephalitis
Hypercapnia, Respiratory failure requiring assisted ventilation, Pneumonia, Dyspnea, Respiratory ... ORPHA:79138
Abetalipoproteinemia
Hypothyroidism, Respiratory failure ORPHA:14
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... ORPHA:320
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Generalized Glucocorticoid Resistance Syndrome
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... ORPHA:786
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Central adrenal insufficiency OMIM:616007
Tuberous Sclerosis Complex
Respiratory distress, Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Pheochromocytoma, ... ORPHA:805
Listeriosis
Respiratory distress, Miscarriage, Respiratory failure, Pneumonia ORPHA:533
Lethal Acantholytic Erosive Disorder
Respiratory failure ORPHA:158687
Pearson Syndrome
Hypoparathyroidism, Adrenal insufficiency, Exocrine pancreatic insufficiency, Decreased response ... ORPHA:699
Short Rib-Polydactyly Syndrome
Respiratory failure ORPHA:1505
Acute Liver Failure
Adrenal insufficiency, Abnormal pattern of respiration, Hyperventilation, Abnormal respiratory sy... ORPHA:90062
Nijmegen Breakage Syndrome
Abnormality of neuronal migration, Respiratory failure, Recurrent pneumonia ORPHA:647
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Death in infancy OMIM:300868
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency, Polymicrogyria OMIM:261515
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Orchitis, Inappropriate antidiuretic hormone secretion, Hemothorax, Hyperh... ORPHA:99827
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure OMIM:613658
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Stridor, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure ORPHA:79404
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Lissencephaly, Restrictive ventilatory defect, Pulmonary arterial hypertension, Resp... ORPHA:96334
Myhre Syndrome
Respiratory insufficiency, Respiratory failure OMIM:139210
Costello Syndrome
Tracheomalacia, Respiratory insufficiency, Pneumothorax, Respiratory failure, Obstructive sleep a... OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2556
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Primary adrenal insufficiency, Pulmonary arterial hypertension ORPHA:275761
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Abnormal calcium-phosphate regulating hormone level, Respiratory failure ORPHA:2636
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Respiratory failure, Recurrent pneumonia, Hypoventilation ORPHA:731
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Decreased response to growth hormone stimulation test, Tracheomalacia, Hypoth... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Tracheomalacia, Hypoth... ORPHA:363958
Niemann-Pick Disease Type C
Aspiration pneumonia, Respiratory insufficiency, Respiratory failure ORPHA:646
Pallister-Hall Syndrome
Adrenocorticotropic hormone deficiency, Precocious puberty, Abnormal prolactin level, Central adr... ORPHA:672
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Simplified gyral pattern, Respiratory failure, Polymicrogyria, Emphysema ORPHA:500150
Microphthalmia, Syndromic 2
Adrenal insufficiency, Hypothyroidism OMIM:300166
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Maternal diabetes, Respiratory failure ORPHA:3404
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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