Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 23 (nucleobase transporters), member 2
Synonyms:
YSPL3,  SVCT2,  Slc23a1

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 Slc23a2 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 Slc23a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Hypothyroidism, Adrenal insufficiency OMIM:262700
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Adrenocortical Hypofunction, Chronic Primary Congenital
Adrenal insufficiency OMIM:103230
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Glucocortocoi... ORPHA:404
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnormal circ... ORPHA:403
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Shock, Respiratory distress, Increased circulating procalcitonin concentration,... ORPHA:36238
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Increased circulating renin ... OMIM:610600
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Hepatojugular reflux, Late inspiratory ... ORPHA:2302
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche OMIM:145295
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Increased circulating reni... ORPHA:556037
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Elevated serum 11-deoxycortisol, Hypotension, Increased circulating reni... ORPHA:556030
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Respiratory failure OMIM:301021
Hyperaldosteronism, Familial, Type I
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Epistaxis... ORPHA:449285
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste... ORPHA:251274
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Fatiguable weakness of proximal limb muscles, Cough, Respiratory failure requiring assis... ORPHA:90117
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Adrenal insufficiency, Respiratory failure, Pancreatitis, Hypertrophic cardiomy... OMIM:619386
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Myocardial infarction, Congestive heart failu... ORPHA:132
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
Immunodeficiency 54
Respiratory insufficiency, Adrenocorticotropic hormone excess, Adrenal insufficiency, Respiratory... OMIM:609981
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Pneumonia, Abnormal tracheobronchial m... ORPHA:1163
Adult Acute Respiratory Distress Syndrome
Dyspnea, Hypotension, Pneumonia, Respiratory failure, Abnormal blood gas level, Diabetic ketoacid... ORPHA:70578
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Hypergonadotropic hypogonadism, Hypertension, Delayed puber... ORPHA:280679
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... OMIM:168000
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... ORPHA:231625
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Adrenal hypoplasia, Adrenal insufficiency, Adrenocorticotropic hormone d... OMIM:609734
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Cardiogenic sh... ORPHA:563
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Stroke-like episode, Ab... OMIM:300845
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Hypogonadism, Adrenal insufficiency, Delayed puberty, Central adrenal insufficiency OMIM:612079
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle w... OMIM:611890
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Ischemic stroke, Intracranial hemorrhage, Hypertension, Stroke, Cerebral hemorrhage, Cerebral isc... ORPHA:136
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Diffuse alveolar hemorrhage, Abnorm... ORPHA:178320
Scedosporiosis
Pleuritis, Pericarditis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breat... ORPHA:449280
+173470 integrin, beta-3
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno... OMIM:173470
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Epistaxis, Hyperaldosteronism, Hypertension, Abnormal circulating renin,... ORPHA:369929
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... OMIM:262600
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Ovarian cyst, Joint hemorrhage, Gastrointestinal hemorrhage, In... ORPHA:327
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Dilatation of the c... ORPHA:36382
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Pure Autonomic Failure
Anhidrosis, Abnormality of circulating catecholamine level, Orthostatic hypotension, Syncope ORPHA:441
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Premature pubarche, Premature adrenarche, El... ORPHA:90795
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Diabetes mellitus, ... OMIM:615830
Cerebral Cavernous Malformations
Intracranial hemorrhage OMIM:116860
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
8P23.1 Duplication Syndrome
Adrenal insufficiency, Pulmonic stenosis, Wide nose ORPHA:251076
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Subarachnoid hemorrhage, Asthma, Cerebral vasculitis, Recurrent sinopulmonary infections OMIM:243700
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Abnormality of the sphenoid sinus, Adrenocorticotropin deficient adrenal insu... ORPHA:91350
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... ORPHA:71526
Adrenal Hypoplasia, Congenital
Cryptorchidism, Adrenal hypoplasia, Decreased circulating cortisol level, Primary adrenal insuffi... OMIM:300200
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Hypertension, Respiratory insufficiency OMIM:605711
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Hypothyroidism, ST segment depression, Hypopituitarism, Hy... ORPHA:90065
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Hypotension, Pneumonia, Atelectasis, Tachycardia, Cardiac arrest, Re... ORPHA:70587
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Nelson Syndrome
Increased urinary cortisol level, Abnormality of the sphenoid sinus, Secondary hypercortisolism, ... ORPHA:199244
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Anteverted nares, Depressed na... OMIM:313420
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Congenital Factor Xiii Deficiency
Ecchymosis, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage,... ORPHA:331
Amyotrophic Lateral Sclerosis
Fatigable weakness of respiratory muscles, Dyspnea, Fatigable weakness of swallowing muscles, Abn... ORPHA:803
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Respiratory insufficiency, Respiratory failure, Dilated cardiomyopathy, Hypertr... OMIM:614299
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism OMIM:613743
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... ORPHA:3002
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:201910
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Pseudohypoaldosteronism, R... OMIM:264350
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Autoimmune Polyendocrinopathy Type 2
Graves disease, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thyroid ... ORPHA:3143
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure OMIM:616794
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory failure, Respiratory insufficiency, Fatigable weakness of skeletal mu... ORPHA:370968
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy, Bradycardia OMIM:617248
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia OMIM:227500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Apnea OMIM:240200
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated circulating thyroid-stimulating hormone concentration, Elevated broncho... OMIM:610978
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Abnormal lower motor neuron morphology, Resp... ORPHA:2590
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Primary Pigmented Nodular Adrenocortical Disease
Hypertension, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micronodular adreno... ORPHA:189439
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dyspnea, Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscle weak... ORPHA:352447
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Decreased circulating... OMIM:610489
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Episodic hyperhidrosis, Positive reg... ORPHA:94080
Fetal Gaucher Disease
Stillbirth, Intracranial hemorrhage, Death in infancy, Neonatal death, Anteverted nares, Depresse... ORPHA:85212
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hy... OMIM:171420
Primary Unilateral Adrenal Hyperplasia
Palpitations, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Dec... ORPHA:231580
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension OMIM:202110
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism OMIM:145260
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Respiratory failure, Hyperinsulinemia, Hypertension ORPHA:363400
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia, Hypertriglyceridemia, Cryptorchidism OMIM:307030
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Increased circulating cortisol level, Abnormal circulating test... ORPHA:786
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension, Diabetes mellitus, Bruising susceptibility, Macronodular adrenal hyperplasia ORPHA:189427
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Wide nasal bridge, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Respiratory distress, Pulmonary fibrosis, Elevated circulating thyroi... ORPHA:209905
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Intracranial hemorrhage, Subarachnoid hemorrhage, Cerebral ... ORPHA:231160
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Degeneration of anterior horn cells, Respiratory insufficiency OMIM:600333
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Decreased circulating renin level, Hypertension, Hyperaldosteronism OMIM:613677
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism, Respiratory insufficiency ORPHA:869
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Wheezing, Elevated circulating growth hormone concentration, Inc... ORPHA:97287
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperactive renin-angiotensin system, Increased circulating renin level, Hyperaldost... OMIM:177735
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Respiratory failure, Bruising susceptibility, R... ORPHA:3226
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Fatigable weakness of respiratory muscles, Exertional dyspnea, Or... ORPHA:98913
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... ORPHA:133
Menkes Disease
Intracranial hemorrhage, Death in childhood OMIM:309400
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Dengue Fever
Cardiorespiratory arrest, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechiae, Cerebra... ORPHA:99828
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorrhage, Epidural he... ORPHA:465
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Transient ischemic attack, Cerebral vasculitis, Stroke ORPHA:140989
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Hypogonadism OMIM:617872
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Macroorchidism, Pneum... ORPHA:90790
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Extracranial Carotid Artery Aneurysm
Arteritis, Subarachnoid hemorrhage, Hypertension, Stroke, Cerebral ischemia, Vasculitis, Diabetes... ORPHA:494424
Hyperekplexia 4
Respiratory failure OMIM:618011
Mirage Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Intracranial hemorrhage, Adrenal insufficiency, P... OMIM:617053
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Hypophosphatasia, Infantile
Apnea, Stillbirth, Intracranial hemorrhage, Death in infancy, Recurrent respiratory infections OMIM:241500
Apparent Mineralocorticoid Excess
Hypertension, Stroke, Abnormality of circulating cortisol level, Decreased circulating renin leve... ORPHA:320
Tempi Syndrome
Intracranial hemorrhage, Abnormality of the pulmonary vasculature, Hypoxemia, Telangiectasia, Tra... ORPHA:284227
Adrenomyodystrophy
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma OMIM:300270
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Familial Glucocorticoid Deficiency
Cryptorchidism, Impaired cortisol response to insulin stimulation test, Decreased circulating deh... ORPHA:361
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Episo... ORPHA:276621
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Inspiratory stridor, Degeneration of anterior horn ... OMIM:604320
Sneddon Syndrome
Cerebral hemorrhage, Ischemic stroke, Hypertension OMIM:182410
Congenital Isolated Acth Deficiency
Hypotension, Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin defici... ORPHA:199296
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Aortic regurgitation, Gastrointestinal hemorr... ORPHA:99147
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Tracheomalacia, Respiratory insufficiency, Laryngomalacia, Neonatal deat... OMIM:245650
Cerebral Cavernous Malformations 3
Cerebral hemorrhage OMIM:603285
Cocaine Intoxication
Ventricular arrhythmia, Wheezing, Cough, Cerebral hemorrhage, Pulmonary edema, Respiratory distre... ORPHA:90068
Pseudo-Torch Syndrome 3
Apnea, Death in infancy, Hypertension, Respiratory insufficiency, Cerebral hemorrhage OMIM:618886
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Central sleep apnea, Abnormal lung morphology, Gastrointestinal hemorrhage, Hematemesis, Intracra... ORPHA:464321
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Diabetes mellitus, Respiratory failure, Respiratory insufficiency OMIM:613845
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Bulbous nose, Abnormal response to hu... ORPHA:95699
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Recurrent sinusitis, Central adrenal insufficiency, A... OMIM:615577
Familial Afibrinogenemia
Abnormal bleeding, Cerebral hemorrhage, Epistaxis, Gingival bleeding ORPHA:98880
Meningioma
Abnormality on pulmonary function testing, Decreased circulating ACTH level, Decreased circulatin... ORPHA:2495
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Episo... ORPHA:29072
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Arrhythmia, Death in infancy, Congestive heart failure, Respiratory failure, Hype... ORPHA:1194
X-Linked Adrenoleukodystrophy
Increased circulating ACTH level, Adrenal insufficiency, Abnormality of adrenal physiology ORPHA:43
Muscular Dystrophy, Duchenne Type
Arrhythmia, Hypoventilation, Cardiomyopathy, Respiratory insufficiency, Congestive heart failure,... OMIM:310200
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Hypertension, Exertional dyspnea OMIM:133100
Kaposiform Lymphangiomatosis
Abnormal bleeding, Abnormal lung morphology, Dyspnea, Epidural hemorrhage, Subconjunctival hemorr... ORPHA:464329
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Decreased circulating parathyroid hormone level, Male hypogonadism, Primary adrenal insufficiency... OMIM:240300
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Intracranial hemorrhage, Emphysema, Hypertension, Hypertriglyceridemia, Aor... ORPHA:363618
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Death in infancy, Steatorrhea, Adrenal insufficiency, Hypertriglyceridemia,... OMIM:278000
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Tricuspid regurgitation, Respiratory insufficiency, Congestive heart failure, Respira... ORPHA:746
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Pseudohypoaldosteronism, Type Iib
Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Pseudohypoaldosteronism OMIM:614495
Von Hippel-Lindau Disease
Palpitations, Pancreatic endocrine tumor, Arrhythmia, Pancreatic cysts, Cardiomyopathy, Abnormal ... ORPHA:892
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618329
Wyburn-Mason Syndrome
Subarachnoid hemorrhage, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morphology, G... ORPHA:53719
Pendred Syndrome
Goiter, Hypothyroidism, Respiratory insufficiency, Thyroid carcinoma, Tracheal stenosis, Hyperpar... ORPHA:705
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:90796
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent bronchitis, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal ins... ORPHA:293978
Wolman Disease
Adrenal insufficiency, Adrenal calcification, Steatorrhea ORPHA:75233
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95513
Cushing Disease
Hypertension, Telangiectasia of the skin, Menorrhagia, Diabetes mellitus, Adrenal hyperplasia, Br... ORPHA:96253
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Respiratory failure requiring assisted ventilation, Respiratory failure, Neonatal... OMIM:310400
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Orthostatic hypotension,... ORPHA:95512
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Bradycardia, Respiratory insufficiency OMIM:617397
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension ORPHA:84090
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Pleural effusion, Tachycardia, Respiratory fa... ORPHA:542323
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency, Anteverted nares, Wide nasal bridge OMIM:202370
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Hypothyroidism, Respiratory failure, Cardiomyopathy ORPHA:445038
Pseudohypoaldosteronism, Type Iic
Hypertension, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism OMIM:614496
Carney Triad
Arrhythmia, Adrenocortical adenoma, Gastrointestinal hemorrhage, Pheochromocytoma, Hypertension, ... ORPHA:139411
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Adrenal insufficiency, Hypertriglyceridemia, Hypogonadism OMIM:617575
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Respiratory failure requiring assisted ventila... ORPHA:308552
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia ORPHA:624
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Dyspnea, Internal hemorrhage, Purpura, Intracranial hemorrha... ORPHA:906
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Arrhythmia, Dyspnea, Cardiorespiratory arrest, Acute pancreatitis... ORPHA:26791
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Respiratory failure, Pancreat... ORPHA:1549
Nocardiosis
Abnormal sputum, Dyspnea, Respiratory distress, Pericarditis, Pleuritis, Thyroiditis, Emphysema, ... ORPHA:31204
Propionic Acidemia
Apnea, Cerebellar hemorrhage, Pancreatitis, Tachypnea, Cardiomyopathy OMIM:606054
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Respiratory insufficiency, Pulmonary hypoplasia, Respirato... OMIM:602088
Bannayan-Riley-Ruvalcaba Syndrome
Short nose, Intracranial hemorrhage, Angina pectoris, Hashimoto thyroiditis, Thyroid carcinoma, N... ORPHA:109
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Increased circulating renin level, Adrenal ins... ORPHA:427
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Pheochromocytoma
Pheochromocytoma, Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hy... OMIM:171300
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Shock, Prolonged prothrombin time ORPHA:49566
Sheehan Syndrome
Panhypopituitarism, Palpitations, Adrenocorticotropin deficient adrenal insufficiency, Orthostati... ORPHA:91355
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Res... ORPHA:444013
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Maternal diabetes, Respiratory distress, Neonatal death, Pulmonary hypoplasia, Re... OMIM:266910
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Anteverted nares, Wide nasal bridge ORPHA:44
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Riddle Syndrome
Conjunctival telangiectasia, Recurrent pneumonia, Restrictive ventilatory defect, Intraventricula... ORPHA:420741
Aa Amyloidosis
Hypotension, Adrenal insufficiency, Hypothyroidism ORPHA:85445
Mercury Poisoning
Dyspnea, Respiratory distress, Interstitial pneumonitis, Hypotension, Hypertension, Tachycardia, ... ORPHA:330021
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Orthostatic hypotension, Hypovolemia, Hypotension, Pr... ORPHA:95409
Polycythemia Vera
Cerebral hemorrhage, Budd-Chiari syndrome, Cerebral ischemia, Gastrointestinal hemorrhage OMIM:263300
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Adrenal gland agenesis, Pulmonary artery stenosis, Bilateral lung agenesis OMIM:611812
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypovolemia, Exertional dyspnea, Subarachnoid hemorrhage, ... ORPHA:91387
Xp21 Deletion Syndrome
Primary adrenal insufficiency, Adrenal insufficiency, Apneic episodes in infancy, Hypertriglyceri... ORPHA:261476
Prader-Willi Syndrome
Cryptorchidism, Central sleep apnea, Premature pubarche, Premature adrenarche, Central hypothyroi... ORPHA:739
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Exertional ... OMIM:187300
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Fatigable weakness of respiratory muscles, Respiratory ... ORPHA:365
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Apnea, Arrhythmia, Respiratory distress, Bulbous nose, Respir... OMIM:608836
Flynn-Aird Syndrome
Primary adrenal insufficiency, Abnormality of the thyroid gland, Type II diabetes mellitus ORPHA:2047
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hemorrhage, Oral cavity bleeding, Epi... ORPHA:324636
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Prolactinoma
Abnormality of the pituitary gland, Male hypogonadism, Elevated circulating growth hormone concen... ORPHA:2965
Acute Liver Failure
Abnormal bleeding, Hypocapnia, Gastrointestinal hemorrhage, Abnormal respiratory system physiolog... ORPHA:90062
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:98754
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Dyspnea, Lip telangiectasia, Cerebral arteriovenous... OMIM:610655
Dominant Beta-Thalassemia
Arrhythmia, Dyspnea, Hypothyroidism, Hypopituitarism, Adrenal insufficiency, Delayed puberty, Hig... ORPHA:231226
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Poems Syndrome
Restrictive ventilatory defect, Primary adrenal insufficiency, Hypothyroidism, Pleural effusion, ... ORPHA:2905
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage, Pancreatitis OMIM:251000
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Decreased circulating aldosterone level, Increased circulating renin level OMIM:203400
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:98793
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Neonatal death, Death in infancy, Hypertrophic cardiomyopathy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Neonatal death, Death in infancy, Cardiomyopathy OMIM:618839
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:218030
Kearns-Sayre Syndrome
Arrhythmia, Primary adrenal insufficiency, Third degree atrioventricular block, Diabetes mellitus... OMIM:530000
Congenital Multicore Myopathy With External Ophthalmoplegia
Cryptorchidism, Abnormal respiratory system physiology, Pneumonia, Respiratory failure, Recurrent... ORPHA:98905
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:177904
Craniopharyngioma
Sleep apnea, Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, H... ORPHA:54595
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Premature pubarche, Premature adrenarche, Decreased circulating T4 level, Central... ORPHA:177901
Beta-Thalassemia Intermedia
Hypothyroidism, Cholelithiasis, Adrenal insufficiency, High-output congestive heart failure, Pulm... ORPHA:231222
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating grow... ORPHA:91347
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:398073
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy ORPHA:2481
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Supraventricular arrhythmia, Pulmonary fibrosis, Intracranial hemo... ORPHA:3260
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Obstructive sleep apnea, Stridor, Respiratory failure OMIM:606071
Liddle Syndrome 1
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:177200
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Cerebral arteriovenous malformation, Melena, Cer... OMIM:600376
Beta-Thalassemia Major
Arrhythmia, Dyspnea, Hypothyroidism, Hypopituitarism, Adrenal insufficiency, Delayed puberty, Hig... ORPHA:231214
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke OMIM:263400
Malignant Atrophic Papulosis
Ischemic stroke, Arteritis, Gastrointestinal hemorrhage, Pleural effusion, Telangiectasia of the ... ORPHA:679
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Depressed nasal bridge OMIM:614862
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:289548
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Abeta Amyloidosis, Dutch Type
Cerebral hemorrhage, Death in early adulthood, Stroke ORPHA:100006
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Dyspnea, Hypothyroidism, Cough, Respiratory insufficienc... OMIM:615486
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Fatigable weakness, Congestive heart failure, Dilate... ORPHA:99901
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Bulbous nose, Anteverted nares OMIM:616505
Steinert Myotonic Dystrophy
Hypercholesterolemia, Male hypogonadism, Cardiac conduction abnormality, Respiratory failure requ... ORPHA:273
Myasthenia Gravis
Dyspnea, Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Abnormality of th... ORPHA:589
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Orthostatic hypotension, Adrenal calcification, Prima... ORPHA:85138
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Leigh Syndrome With Cardiomyopathy
Apnea, Cardiac conduction abnormality, Respiratory distress, Central hypoventilation, Pulmonic st... ORPHA:70474
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Acys Amyloidosis
Cerebral hemorrhage, Death in early adulthood, Stroke ORPHA:100008
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Vascular Hyalinosis
Subarachnoid hemorrhage, Hematochezia OMIM:277175
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased circulating androgen co... ORPHA:168558
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Respiratory failure OMIM:607598
Boutonneuse Fever
Vasculitis, Petechiae, Respiratory failure ORPHA:83313
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Tricuspid ... ORPHA:555874
Zellweger Syndrome
Cryptorchidism, Primary adrenal insufficiency, Death in infancy, Respiratory insufficiency, Wide ... ORPHA:912
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Respiratory tract infection, Pancreatic endocrine tumor, Respiratory dis... ORPHA:805
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced ejection fraction, Arrhythmia, Hypoventilation, Respiratory insufficiency, Atelectasis, I... ORPHA:258
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis ORPHA:300298
Poliomyelitis
Fatigable weakness of respiratory muscles, Hypotension, Respiratory failure requiring assisted ve... ORPHA:2912
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Underdeveloped nasal alae, Intracranial hemorrhage, Choanal atresia, Respiratory ... ORPHA:163979
Prader-Willi Syndrome
Cryptorchidism, Sleep apnea, Hypoventilation, Hyperinsulinemia, Recurrent respiratory infections,... OMIM:176270
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Respiratory insufficiency, Congestive heart failure, Respiratory failure, Dilated car... OMIM:609015
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Adrenocorticotropin receptor defect, Decreased circulating ... OMIM:231550
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Hypothyroidism, Steatorrhea, Ty... OMIM:269200
Distal Monosomy 13Q
Primary adrenal insufficiency ORPHA:1590
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Sandestig-Stefanova Syndrome
Respiratory failure, Wide nasal bridge OMIM:618804
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in infancy OMIM:617186
Late-Onset Isolated Acth Deficiency
Graves disease, Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insuffici... ORPHA:199299
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Death in adolescence, Death in infancy, Neonatal death, Death in chi... OMIM:619055
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Arterial Tortuosity Syndrome
Dyspnea, Respiratory distress, Cardiorespiratory arrest, Short nose, Hypertension, Telangiectasia... ORPHA:3342
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Respiratory failure ORPHA:171430
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Premature pubarche OMIM:201810
Hutchinson-Gilford Progeria Syndrome
Decreased serum leptin, Aortic regurgitation, Exertional dyspnea, Angina pectoris, Intracranial h... ORPHA:740
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Bloom Syndrome
Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia, Pneumonia, Respirator... ORPHA:125
Koolen-De Vries Syndrome Due To A Point Mutation
Pear-shaped nose, Cryptorchidism, Intraventricular hemorrhage, Bulbous nose, Underdeveloped nasal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pear-shaped nose, Cryptorchidism, Intraventricular hemorrhage, Bulbous nose, Underdeveloped nasal... ORPHA:363958
Abetalipoproteinemia
Abnormal bleeding, Hypothyroidism, Steatorrhea, Hypocholesterolemia, Congestive heart failure, Re... ORPHA:14
Hellp Syndrome
Internal hemorrhage, Hypotension, Pleural effusion, Cerebral hemorrhage, Pulmonary edema, Prolong... ORPHA:244242
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax, Depressed nasa... ORPHA:3015
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Elevated circulating luteinizing hormone level, Increased circulating gonadotropi... ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Respiratory failure, Death in ... OMIM:610505
Pseudoxanthoma Elasticum, Forme Fruste
Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Gastrointestinal hemorrhage OMIM:177850
Infantile Krabbe Disease
Laryngomalacia, Respiratory failure, Abnormal heart rate variability, Respiratory distress ORPHA:206436
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Abnormal morphology of musculature of pharynx, Laryngeal stridor ORPHA:280210
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Cerebral ... ORPHA:394
Tbck-Related Intellectual Disability Syndrome
Cryptorchidism, Bulbous nose, Hypothyroidism, Central adrenal insufficiency, Respiratory insuffic... ORPHA:488632
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Depressed nasal bridge, Central adrenal insufficiency, Decreased response to growth hormone stimu... OMIM:616007
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure, Anteverted nares, Depressed nasal bridge OMIM:617301
Hydrolethalus Syndrome 1
Stillbirth, Adrenal gland dysgenesis, Laryngeal hypoplasia, Tracheal stenosis, Midline defect of ... OMIM:236680
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Stillbirth, Respiratory insufficiency, Respiratory failure, Depressed nasal bridge OMIM:304120
Adrenoleukodystrophy
Primary adrenal insufficiency, Hypogonadism OMIM:300100
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Adrenomyeloneuropathy
Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Adrenocortical abnormality, Ad... ORPHA:139399
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Prolonged prothrombin time, Cardiomyopathy ORPHA:88618
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency, Short nose OMIM:614863
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Hydranencephaly
Abnormal cerebral artery morphology, Antenatal intracerebral hemorrhage, Atrophic pituitary gland ORPHA:2177
Tetraamelia Syndrome 1
Choanal atresia, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Single naris, Adrenal... OMIM:273395
Congenital Fiber-Type Disproportion Myopathy
Fatigable weakness of bulbar muscles, Hypercapnia, Respiratory insufficiency due to muscle weakne... ORPHA:2020
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Respiratory distress, Subdural hemorrhage, Stroke, Pulmonary embolism, Pu... ORPHA:79282
Leigh Syndrome
Abnormal pattern of respiration, Congestive heart failure, Respiratory failure, Hypertrophic card... ORPHA:506
Medulloblastoma
Cerebellar hemorrhage, Neoplasm of the lung ORPHA:616
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure, Laryngomalacia, Anteverted nares, Depressed nasal bridge ORPHA:254528
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Cardiomyopathy, Respiratory failure, Hypovolemic shock ORPHA:158687
X-Linked Cerebral Adrenoleukodystrophy
Primary adrenal insufficiency, Male hypogonadism, Decreased circulating cortisol level ORPHA:139396
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Subdural hemorrhage, Cerebral hemorrhage, Arterial rupture, B... ORPHA:536545
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hypovolemia, Hypotension, Primary adrenal insufficiency, Steat... ORPHA:275761
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Gastrointestinal hemorrhage, Pancreatic cysts, Hyperte... ORPHA:731
Niemann-Pick Disease, Type C2
Respiratory failure, Respiratory insufficiency OMIM:607625
Listeriosis
Arteritis, Pericarditis, Respiratory distress, Pneumonia, Stroke, Congestive heart failure, Respi... ORPHA:533
Short Rib-Polydactyly Syndrome
Abnormal larynx morphology, Abnormal epiglottis morphology, Respiratory failure, Depressed nasal ... ORPHA:1505
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Prominent nose, Respiratory failure, Recurrent pneumonia, Pro... ORPHA:647
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cryptorchidism, Dyspnea, Bulbous nose, Abnormal calcium-phosphate regulating hormone level, Respi... ORPHA:2636
Menkes Disease
Intracranial hemorrhage, Spontaneous hematomas, Gastrointestinal hemorrhage ORPHA:565
Microphthalmia With Linear Skin Defects Syndrome
Arrhythmia, Dyspnea, Respiratory distress, Abnormal testis morphology, Tricuspid regurgitation, W... ORPHA:2556
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory failure, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:252010
Cockayne Syndrome Type 3
Subdural hemorrhage, Stroke, Increased blood pressure, Retinal hemorrhage, Cardiomyopathy, Narrow... ORPHA:90324
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Laryngeal stenosis, Respiratory failure, Abnormality of... ORPHA:79404
Myhre Syndrome
Cryptorchidism, Laryngotracheal stenosis, Hypertension, Respiratory insufficiency, Aortic valve s... OMIM:139210
Pearson Syndrome
Exocrine pancreatic insufficiency, Cardiac conduction abnormality, Hypothyroidism, Steatorrhea, P... ORPHA:699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Costello Syndrome
Arrhythmia, Anteverted nares, Tracheomalacia, Respiratory insufficiency, Pulmonic stenosis, Respi... OMIM:218040
Osteogenesis Imperfecta
Aortic regurgitation, Neonatal respiratory distress, Cerebral hemorrhage, Hyperhidrosis, Pulmonar... ORPHA:666
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Restrictive ventilatory defect, Wide nasal bridge, Hypoplastic nipples, Laryngoma... ORPHA:96334
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Dyspnea, Respiratory distress, Breast aplasia, Respiratory failure ORPHA:2554
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Ulbright-Hodes Syndrome
Cryptorchidism, Maternal diabetes, Respiratory distress, Pulmonary hypoplasia, Respiratory failur... ORPHA:3404
Doors Syndrome
Respiratory distress, Bulbous nose, Wide nasal bridge, Congenital hypothyroidism, Aspiration pneu... ORPHA:79500
Pmm2-Cdg
Elevated circulating growth hormone concentration, Hyperinsulinemia, Pericarditis, Aplasia of the... ORPHA:79318
Superficial Siderosis
Persistent bleeding after trauma, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrhage ORPHA:247245
Parkes Weber Syndrome
Abnormal bleeding, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, High-output cong... ORPHA:90307
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory insufficiency, Respiratory failure, Aspiration pneumonia, P... ORPHA:646
Pallister-Hall Syndrome
Cryptorchidism, Choanal atresia, Pituitary hypothyroidism, Respiratory insufficiency, Decreased t... ORPHA:672
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Ischemic stroke, Short nose, Absent gallbladder, Emphysema, Wide nasal ... ORPHA:500150
Orofaciodigital Syndrome Type 4
Absent testis, Short nose, Primary adrenal insufficiency, Choanal atresia, Laryngomalacia, Pulmon... ORPHA:2753
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency, Bile duct proliferation, Depressed nasal bridge OMIM:261515
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Arrhythmia, Pericarditis,... ORPHA:3385
Microphthalmia, Syndromic 2
Cryptorchidism, Hypothyroidism, Adrenal insufficiency, Aortic valve stenosis, Pulmonic stenosis, ... OMIM:300166
Loeys-Dietz Syndrome 3
Subarachnoid hemorrhage, Atrial fibrillation, Tortuous cerebral arteries, Pulmonic stenosis, Dila... OMIM:613795
Familial Cerebral Cavernous Malformation
Cerebral hemorrhage ORPHA:221061
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebral hemorrhage, Ischemic stroke, Corneal neovascularization OMIM:175780

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 Slc23a2

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 Slc23a2.

No publications found that use IMPC mice or data for Slc23a2.

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MGI Allele Allele Type Produced
Slc23a2tm238997(L1L2_Bact_P) Targeting vectors

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