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Gene: Slc23a2 MGI:1859682

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

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 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
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test OMIM:262700
Familial Cervical Artery Dissection
Diabetes mellitus, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage,... ORPHA:36382
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Increased circulating corticosterone level, Decreased circulating aldost... OMIM:610600
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i... ORPHA:3453
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortis... ORPHA:556037
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Abnormal circulating corticosterone level, Elevated serum 11-deoxycortis... ORPHA:556030
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... ORPHA:449285
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... OMIM:605373
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Immunodeficiency 54
Recurrent respiratory infections, Respiratory insufficiency, Adrenocorticotropic hormone excess, ... OMIM:609981
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, T... ORPHA:36238
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Adrenal insufficiency, Hypertrophic cardiomyopathy, Pancre... OMIM:619386
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure... ORPHA:132
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... ORPHA:563
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abn... ORPHA:70578
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania... ORPHA:136
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... ORPHA:31825
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:369929
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Cryptor... OMIM:611890
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Elevat... OMIM:263400
Pure Autonomic Failure
Anhidrosis, Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension ORPHA:441
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... OMIM:263000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... ORPHA:90795
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Scedosporiosis
Bronchial breath sound, Sinusitis, Diabetes mellitus, Pneumonia, Bronchitis, Pericarditis, Abnorm... ORPHA:449280
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Aspergillosis
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormality on pulmonary fu... ORPHA:1163
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Adrenal insufficiency, Pulmonic stenosis ORPHA:251076
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Acute Lung Injury
Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... ORPHA:178320
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... ORPHA:79126
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper... ORPHA:35909
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... ORPHA:90065
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding ORPHA:98880
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Vascular granular osmiophilic material deposition, Respiratory ... OMIM:610127
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Recurrent respiratory infections, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, ... OMIM:264350
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, T... ORPHA:494424
Moderate Hemophilia A
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... ORPHA:331
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... ORPHA:465
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology, Respira... ORPHA:2590
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure OMIM:616794
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Hypoadrenocorticism, Familial
Adrenal insufficiency, Apnea, Adrenal hypoplasia OMIM:240200
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Hyperhidrosis, Respir... OMIM:245400
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism OMIM:145260
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency, Respiratory insufficiency ORPHA:869
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Cerebral hemorrhage, Episodic hyperhidrosis, Congestive heart fai... ORPHA:94080
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, ... ORPHA:99931
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Thyroid dysgenesis, Thyroid hemiagenesis, Respiratory distress, Neonatal resp... ORPHA:209905
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Respiratory failure, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... OMIM:620296
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Fetal And Neonatal Alloimmune Thrombocytopenia
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... ORPHA:853
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... OMIM:620326
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Hyperaldosteronism, Familial, Type Iii
Hypertension, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Dilated cardiomyopathy, Respiratory insufficie... OMIM:614299
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscle weakness, Dyspnea, Dilate... ORPHA:352447
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypergonadotropic hypogonadism, P... OMIM:617872
Mirage Syndrome
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Patent ductus arteriosus, Int... OMIM:617053
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,... OMIM:171420
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Hemophilia B
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged bleeding after surgery, Join... ORPHA:98879
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory failure, Respiratory insufficiency ORPHA:370968
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Prolonged bleeding time, Intracranial hemorrhage, Respiratory f... ORPHA:3226
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... ORPHA:53719
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Increased circulating ACTH ... ORPHA:90790
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Adrenogenita... OMIM:202010
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... ORPHA:97339
Fetal Gaucher Disease
Intracranial hemorrhage, Death in infancy, Stillbirth, Neonatal death ORPHA:85212
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Vascular granular osmiophilic material... ORPHA:168486
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Respiratory failure OMIM:613435
Hyperekplexia 4
Respiratory failure OMIM:618011
Wolman Disease
Adrenal insufficiency, Adrenal calcification, Bone-marrow foam cells, Steatorrhea ORPHA:75233
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... OMIM:601612
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation OMIM:619483
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Miscarriage, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arrest, Gingival b... ORPHA:99828
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Respiratory failure, Congestive heart failure, Stroke-like episode ORPHA:70472
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level ORPHA:43
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Tachypnea, Hyperhidrosis, Degeneration of anterior horn cells, Respiratory failure, Inspiratory s... OMIM:604320
Apparent Mineralocorticoid Excess
Hypertension, Stroke, Abnormality of circulating cortisol level, Decreased circulating aldosteron... ORPHA:320
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhag... ORPHA:363618
Sneddon Syndrome
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage OMIM:182410
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Episodic hype... ORPHA:276621
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of... ORPHA:284227
Lethal Congenital Contracture Syndrome 5
Death in infancy, Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency OMIM:615368
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Patent ductus arteriosus, Respiratory i... OMIM:617397
Hereditary Pheochromocytoma-Paraganglioma
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C... ORPHA:29072
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Hypophosphatasia, Infantile
Recurrent respiratory infections, Death in infancy, Apnea, Intracranial hemorrhage, Stillbirth OMIM:241500
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory failure, Respiratory distress OMIM:620166
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Adrenocorticotropin receptor defec... OMIM:231550
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Cerebral hemorrhage, Respiratory insufficiency, Hypertension OMIM:618886
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai... OMIM:620278
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Congenital Isolated Acth Deficiency
Hypotension, Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insuffic... ORPHA:199296
Intermediate Nemaline Myopathy
Cardiomyopathy, Respiratory failure ORPHA:171433
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Reduced circulating growth hormone concentration, Aspiration pneumonia OMIM:616430
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Asthma, Recurrent pneumonia, Central adren... OMIM:615577
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Hyperhidrosis, Cou... ORPHA:90068
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Diabetes mellitus, Respiratory insufficiency OMIM:613845
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Subarachnoid hemorrhage, Asthma, Recurre... OMIM:243700
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Congestive heart failure, Cryptorchidism, Respiratory failure, Arrhythmia, Hype... ORPHA:1194
Pseudohypoaldosteronism, Type Iib
Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Pseudohypoaldosteronism OMIM:614495
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Hyperhidrosis, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrh... ORPHA:340
Panhypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95513
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... OMIM:240300
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural he... OMIM:618291
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction, Exertional dyspnea OMIM:133100
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency,... ORPHA:746
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Prolonged bleeding time, Sinusitis, Recurrent intrapulmonary he... ORPHA:906
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Dyspnea, Abnormal lung morph... ORPHA:464329
Adenohypophysitis
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:95512
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure OMIM:613954
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Enlarged polycyst... ORPHA:90796
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Propionic Acidemia
Apnea, Cerebellar hemorrhage, Tachypnea, Cardiomyopathy, Pancreatitis OMIM:606054
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... ORPHA:542323
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Xerostomia, Abnormal respiratory sy... ORPHA:803
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Respiratory failure, Pneumothorax, Hypothyroidism ORPHA:445038
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Ather... ORPHA:2047
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Pseudohypoaldosteronism, Type Iic
Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level OMIM:614492
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodic hypertension,... OMIM:171300
Tibial Muscular Dystrophy
Cardiomyopathy, Respiratory failure ORPHA:609
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Respirat... OMIM:607625
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage ORPHA:49566
Nephronophthisis 2
Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary hypoplasia, Pulmonary ins... OMIM:602088
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism OMIM:614496
Muscular Dystrophy, Duchenne Type
Hypoventilation, Abnormal EKG, Respiratory insufficiency due to muscle weakness, Congestive heart... OMIM:310200
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Cardiomyopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal d... OMIM:614922
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Cholesteryl Ester Storage Disease
Death in infancy, Hypertriglyceridemia, Adrenal calcification, Portal hypertension, Bone-marrow f... OMIM:278000
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Ecchymosis, Internal hemo... ORPHA:99827
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Adrenal insufficiency, Increased circulating renin level, H... ORPHA:427
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Thyroid... ORPHA:109
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Liddle Syndrome 2
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:618126
Sheehan Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... ORPHA:91355
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage, Pancreatitis OMIM:251000
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Orthostatic hypotension, Adrenal hypoplasia, Myocardial inf... ORPHA:95409
Aa Amyloidosis
Hypothyroidism, Hypotension, Adrenal insufficiency ORPHA:85445
Menkes Disease
Intracranial hemorrhage, Death in childhood OMIM:309400
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... OMIM:232300
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Intraventricular hemorrhag... ORPHA:420741
Alg1-Cdg
Cardiomyopathy, Respiratory failure ORPHA:79327
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Reni Syndrome
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypothyroidism OMIM:617575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Apneic episod... ORPHA:261476
Liddle Syndrome 1
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:177200
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Death in infancy OMIM:618835
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Decreased circulating cortisol level, Death in infancy OMIM:618839
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage OMIM:263300
Nocardiosis
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... ORPHA:31204
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Increased circulating renin level, Hypotension OMIM:203400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:218030
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Beta-Thalassemia Intermedia
Hypoparathyroidism, Diabetes mellitus, Cholelithiasis, High-output congestive heart failure, Hypo... ORPHA:231222
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Kearns-Sayre Syndrome
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Cardiomyopathy, Third degre... OMIM:530000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Thoracic aortic aneurysm, Respiratory... ORPHA:365
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... ORPHA:3342
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Abnormal respiratory system physiology, In... ORPHA:90062
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Dyspnea, Congestive heart failure, Cardiorespiratory arrest, Restrictive vent... ORPHA:26791
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... ORPHA:324636
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest... OMIM:615512
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Adrenocortical adenoma, Pheochromocytoma,... ORPHA:139411
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Respiratory insufficiency due to muscle w... ORPHA:2905
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Dilated cardiomyopathy, Respiratory insuf... OMIM:608836
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy ORPHA:2481
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Hypogonadotropic hypogonadism... ORPHA:98754
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency ORPHA:44
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Hypogonadotropic hypogonadism... ORPHA:98793
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat... OMIM:616482
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Hypogonadotropic hypogonadism... ORPHA:177904
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Dyspnea, High-output congestive heart failure, Dilated car... ORPHA:231226
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Elevated circulating luteinizing hor... ORPHA:289548
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Recurrent respiratory infections, Diabetes mellitus, Hypogonadotropic hypogonadism... ORPHA:177901
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... ORPHA:3260
Prader-Willi Syndrome
Recurrent respiratory infections, Diabetes mellitus, Decreased response to growth hormone stimula... ORPHA:739
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Hypogonadotropic hypogonadism, Hypovo... ORPHA:90794
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu... ORPHA:679
Myasthenia Gravis
Hyperthyroidism, Raynaud phenomenon, Dyspnea, Primary adrenal insufficiency, Abnormal thymus morp... ORPHA:589
Boutonneuse Fever
Respiratory failure, Vasculitis, Petechiae ORPHA:83313
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100006
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Adrenal hyp... ORPHA:168558
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy OMIM:607598
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100008
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cryptorchidism, Respiratory failure, Death in childhood OMIM:619847
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro... ORPHA:273
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Adrenal insufficiency ORPHA:300298
Stormorken Syndrome
Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility OMIM:185070
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Adrenal insufficiency, Orthostatic hypotension, Hypohidrosis OMIM:615510
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... ORPHA:54595
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Pancreatic endocrine tumor, Pituitary adenoma,... ORPHA:805
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Primary testic... ORPHA:85138
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Dyspnea, High-output congestive heart failure, Dilated car... ORPHA:231214
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Respiratory insufficiency, Respiratory failure,... OMIM:609015
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Tachypnea, Anomalous... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... OMIM:619055
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... ORPHA:99901
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Adrenocorticot... ORPHA:199299
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Carotid artery occlusion, Mit... ORPHA:740
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, Prolonged prothrombin time, Bile duct proliferati... OMIM:618329
Bloom Syndrome
Diabetes mellitus, Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruct... ORPHA:125
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Steatorrhea, ... OMIM:269200
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Tarp Syndrome
Neonatal death, Tetralogy of Fallot, Subdural hemorrhage OMIM:311900
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... ORPHA:90307
Prader-Willi Syndrome
Hypoventilation, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased respo... OMIM:176270
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent ductus arteriosus, Cryptorchidism, Respiratory failure OMIM:620327
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrop... OMIM:610505
Hellp Syndrome
Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, Internal hemorrha... ORPHA:244242
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Classic Homocystinuria
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... ORPHA:394
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Patent ductus arteriosus, Heart murmur, Respiratory insuffici... ORPHA:163979
Abetalipoproteinemia
Abnormal bleeding, Congestive heart failure, Steatorrhea, Respiratory failure, Prolonged prothrom... ORPHA:14
Zellweger Syndrome
Death in infancy, Primary adrenal insufficiency, Respiratory insufficiency, Cryptorchidism ORPHA:912
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Patent ductus arteriosus, Hypopnea, Respiratory failure, Bradycardia, Ne... OMIM:617248
Infantile Krabbe Disease
Respiratory distress, Cherry red spot of the macula, Respiratory failure, Abnormal heart rate var... ORPHA:206436
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer... ORPHA:227982
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry... ORPHA:251510
Hydranencephaly
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Abnormal cereb... ORPHA:2177
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Respiratory failure, Prolonged prothrombin time ORPHA:88618
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Thymoma, Anterior pitu... ORPHA:227990
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Bone-marrow foam cells, Precoc... ORPHA:275761
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Testicul... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Testicul... ORPHA:363958
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia, Mitral regurgitation OMIM:617809
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr... ORPHA:139399
Poliomyelitis
Respiratory failure requiring assisted ventilation, Hypertension, Respiratory failure, Hypovolemi... ORPHA:2912
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Rajab Interstitial Lung Disease With Brain Calcifications 1
Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici... OMIM:613658
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Chronic pancreatitis, Cryptorchidism, Adrenal in... OMIM:307030
Listeriosis
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Congestive heart failure, Myocarditis... ORPHA:533
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Asthma, R... ORPHA:488632
Arachnoid Cyst
Abnormality of the endocrine system, Subarachnoid hemorrhage ORPHA:2356
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Respiratory failure, Hypovolemic shock, Cardiomyopathy ORPHA:158687
Leigh Syndrome
Congestive heart failure, Respiratory failure, Abnormal pattern of respiration, Hypertrophic card... ORPHA:506
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pu... ORPHA:79282
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
X-Linked Cerebral Adrenoleukodystrophy
Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency ORPHA:139396
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
Medulloblastoma
Neoplasm of the lung, Cerebellar hemorrhage ORPHA:616
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Emphysema, Hypothyroidism, Arterial tortuosity, ... OMIM:619472
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Respi... OMIM:252010
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Tetraamelia Syndrome 1
Adrenal gland agenesis, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia OMIM:273395
Hydrolethalus Syndrome 1
Stillbirth, Abnormal lung lobation, Adrenal gland dysgenesis OMIM:236680
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Bili... ORPHA:731
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus OMIM:617666
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in... ORPHA:536545
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Cockayne Syndrome Type 3
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ... ORPHA:90324
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... ORPHA:247245
Osteogenesis Imperfecta
Aortic regurgitation, Neonatal respiratory distress, Cerebral hemorrhage, Hyperhidrosis, Aortic r... ORPHA:666
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Intraventricular hemorrhage OMIM:613603
Dpagt1-Cdg
Intracranial hemorrhage, Prolonged QT interval, Pulmonary hypoplasia, Stroke-like episode ORPHA:86309
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Telangiectasia of the skin, Decreased response to growth hormone s... OMIM:616007
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Stridor, Respirat... ORPHA:79404
Myhre Syndrome
Cryptorchidism, Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Hypert... OMIM:139210
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Cryptorchidism, Respiratory failure, Breast aplasia ORPHA:2554
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Cryptorchidism, Pulmonary artery stenosis, Abnormal aortic arch morphology, Restrict... ORPHA:96334
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Patent ductus arteriosus, Death in infancy, Respiratory failure OMIM:300868
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Congenital hypothyroidism, Aspiration pneumonia, Doubl... ORPHA:79500
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Abnormal circulating calcium-phosphate regulating hormone concentration, Respiratory fai... ORPHA:2636
Costello Syndrome
Pneumothorax, Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory failure, Pulmon... OMIM:218040
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Respiratory failu... ORPHA:2556
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Respiratory failure, Recurrent pneumonia, Recurrent respirato... ORPHA:647
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Cryptorchidism, Pneumothorax, Respiratory failure, Pulmo... ORPHA:3404
Niemann-Pick Disease Type C
Bone-marrow foam cells, Abnormal lung morphology, Respiratory insufficiency, Respiratory failure,... ORPHA:646
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Type II diabetes mellitus, Unilateral cryptorchidism, Decreased response... OMIM:613406
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Pallister-Hall Syndrome
Decreased testicular size, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticot... ORPHA:672
Pmm2-Cdg
Respiratory distress, Pericarditis, Hypogonadotropic hypogonadism, Angina pectoris, Elevated circ... ORPHA:79318
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Patent ductus arteriosus... ORPHA:500150
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
African Trypanosomiasis
Abnormal EKG, Pericarditis, Miscarriage, Abnormality of the endocrine system, Myocarditis, Conges... ORPHA:3385
D-Bifunctional Protein Deficiency
Bile duct proliferation, Primary adrenal insufficiency OMIM:261515
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage OMIM:619714
Microphthalmia, Syndromic 2
Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Double outlet right ventricle,... OMIM:300166
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Monorchism, Primary adrenal insufficiency, Bilateral lung agene... ORPHA:2753
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Respiratory insufficiency, Respiratory failure, Stillbirth, Dilatation of the sin... OMIM:304120
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... OMIM:175780
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc23a2tm238997(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc23a2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc23a2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc23a2tm3e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc23a2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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