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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
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism OMIM:262700
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... OMIM:618734
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency OMIM:215550
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppressible prim... ORPHA:403
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Int... ORPHA:404
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrom... OMIM:103900
Afibrinogenemia, Congenital
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... OMIM:202400
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Increased circulating corticosterone level, Decr... OMIM:610600
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit... OMIM:605373
Immunodeficiency 54
Respiratory insufficiency, Adrenal insufficiency, Adrenocorticotropic hormone excess, Recurrent r... OMIM:609981
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Hypopituitarism,... ORPHA:449285
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... OMIM:168000
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Adrenal insufficiency, Death in infancy, Pancreatitis, Respiratory f... OMIM:619386
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Myocardial infarction, C... ORPHA:132
Late-Onset Familial Hypoaldosteronism
Hypotension, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Orthostati... ORPHA:556037
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Combined Oxidative Phosphorylation Deficiency 50
Adrenal insufficiency OMIM:619025
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Immunodeficiency 95
Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory... OMIM:619773
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Familial Cervical Artery Dissection
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... ORPHA:36382
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypertension, Adrena... OMIM:201910
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Prolonged QT interval, Intracranial h... ORPHA:251274
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... ORPHA:136
Early-Onset Familial Hypoaldosteronism
Hypotension, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Orthostati... ORPHA:556030
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... ORPHA:231625
Methanol Poisoning
Type I diabetes mellitus, Inflammatory arteriopathy, Permanent atrial fibrillation, Type II diabe... ORPHA:31825
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Bruising susceptibility, Decreased circulating ACTH concent... OMIM:219080
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Moyamoya phenomenon, Decreased response to growth hormone stimulation tes... ORPHA:280679
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Glucocorticoid Deficiency 3
Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l... OMIM:609197
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cryptorchidism, Neonatal death, Respiratory insufficiency... OMIM:611890
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Bruising susceptibility, Primary hypercortisolism, Adrenal ... OMIM:615830
Congenital Factor V Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... ORPHA:326
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Syncope, Orthostatic hypotension, Anhidrosis ORPHA:441
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Increased circulating androgen concentration, Elevated ... ORPHA:90795
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... ORPHA:284388
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage OMIM:603284
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adrenal hyperplasia, Abnorma... ORPHA:369929
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Shock, Pleural effusion, Increased circulating procalcitonin concentratio... ORPHA:36238
Abetal34V Amyloidosis
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324703
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... OMIM:300200
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema, Pancreatitis, Respiratory failure, Di... ORPHA:70578
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... OMIM:609734
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Adrenal insufficiency, Pulmonic stenosis ORPHA:251076
Erythrocytosis, Familial, 2
Hypotension, Elevated circulating erythropoietin concentration, Varicose veins, Stroke, Pulmonary... OMIM:263400
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, Abnorma... ORPHA:90065
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri... ORPHA:563
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Congenital Factor Ii Deficiency
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... ORPHA:325
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Respiratory failure, Resp... ORPHA:2590
Factor Xiii, A Subunit, Deficiency Of
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... OMIM:613225
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Moderate Hemophilia A
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... ORPHA:169805
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Recurrent respiratory infections, Hyperaldosteronism, Pseudohypoaldosteronism, Hyper... OMIM:264350
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Nelson Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca... ORPHA:199244
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Neonatal respiratory distress, Reticular pattern on pulmonary HRCT, Usual i... OMIM:610921
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... ORPHA:331
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Neo... ORPHA:90791
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:90117
Familial Afibrinogenemia
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage, Miscarriage ORPHA:98880
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Vascular granular osmiophilic material deposition, Respiratory failure, Respirato... OMIM:610127
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure OMIM:616794
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Autoimmune Polyendocrinopathy Type 2
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... ORPHA:3143
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Abeta Amyloidosis, Iowa Type
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage ORPHA:324708
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy, Bradycardia OMIM:616277
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Factor Vii Deficiency
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... OMIM:227500
Scedosporiosis
Pneumonia, Bronchitis, Pleuritis, Pulmonary fibrosis, Diabetes mellitus, Respiratory failure, Ple... ORPHA:449280
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:94080
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism, Hypertension OMIM:145260
Triple A Syndrome
Adrenal insufficiency, Anterior hypopituitarism, Respiratory insufficiency ORPHA:869
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... ORPHA:254875
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... ORPHA:853
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... ORPHA:465
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia OMIM:202110
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Chronic bronchitis, Recurrent... OMIM:608647
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In... OMIM:610913
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:616867
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hypertension, Respiratory failure, Hypertriglyceridemia ORPHA:363400
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... ORPHA:70587
Sneddon Syndrome
Arterial stenosis, Hypertension, Intracranial hemorrhage ORPHA:820
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Congenital Myopathy 10A, Severe Variant
Respiratory failure, Respiratory insufficiency OMIM:614399
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Adrenal hyperplasia, Decreased circulating renin level, Hypertension, Gl... ORPHA:231580
Combined Oxidative Phosphorylation Deficiency 34
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... OMIM:617872
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypertension, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Mirage Syndrome
Aspiration pneumonia, Decreased testicular size, Adrenal insufficiency, Petechiae, Cryptorchidism... OMIM:617053
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Episodic hypertensio... OMIM:171420
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Cryptorchidism, Respiratory insufficiency ORPHA:370968
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia, Respiratory insufficiency due to muscle weakness, Respiratory... ORPHA:352447
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Recurrent pneumonia, Elevated circulating thyroid-stimulating horm... ORPHA:209905
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... OMIM:620296
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Asbestos Intoxication
Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ... ORPHA:2302
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, I... OMIM:177735
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Bruising susceptibility, Recurrent respiratory infections, Intracranial ... ORPHA:3226
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Respiratory ... OMIM:263000
Mitochondrial Complex I Deficiency, Nuclear Type 16
Adrenal insufficiency OMIM:618238
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular adrenocorti... OMIM:610475
Isolated Anencephaly/Exencephaly
Primary adrenal insufficiency ORPHA:1048
Factor X Deficiency
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... OMIM:227600
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Bruising susceptibility, Neuroendocrine ... ORPHA:189427
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Shock, Abnormal pulmonary interstitial morphology, Acute ... ORPHA:178320
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Hemophilia B
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... ORPHA:98879
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Primary Angiitis Of The Central Nervous System
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis ORPHA:140989
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Fetal Gaucher Disease
Intracranial hemorrhage, Stillbirth, Death in infancy, Neonatal death ORPHA:85212
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Dural Sinus Malformation
Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage, Cerebellar... ORPHA:97339
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Aspergillosis
Pneumonia, Pleural effusion, Stroke, Hypersensitivity pneumonitis, Intracranial hemorrhage, Pulmo... ORPHA:1163
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Hypotension, Decreased circulating dehydroepiandroster... ORPHA:361
Wolman Disease
Adrenal calcification, Adrenal insufficiency, Bone-marrow foam cells, Steatorrhea ORPHA:75233
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased c... ORPHA:90790
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Miscarriage ORPHA:96181
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... ORPHA:99147
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cardiorespiratory arrest,... ORPHA:99828
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Stroke-like episode, Respiratory failure, Congestive heart failure ORPHA:70472
Hyperekplexia 4
Respiratory failure OMIM:618011
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy,... OMIM:614299
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hypotension, Adrenocorticotropin deficient adrenal insuffic... ORPHA:199296
Wyburn-Mason Syndrome
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... ORPHA:53719
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level ORPHA:43
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death, Coarctation of aorta, Patent ... OMIM:601612
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Pleural effusion, Petechiae, Bradycardia, Acute respiratory distress s... OMIM:617397
Sneddon Syndrome
Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:276621
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage, Death in infancy, Respiratory insufficiency OMIM:615368
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Bronchiectasis, Atelectasis, Abnormal inferior vena cava morpholog... ORPHA:244
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:605115
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:29072
Pneumocystosis
Respiratory insufficiency, Pleural effusion, Interstitial pneumonitis, Multiple pulmonary cysts, ... ORPHA:723
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Lipoid pneumonia, Respiratory failure OMIM:620326
Congenital Neuronal Ceroid Lipofuscinosis
Vascular granular osmiophilic material deposition, Neonatal respiratory distress, Respiratory fai... ORPHA:168486
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Achalasia-Addisonianism-Alacrima Syndrome
Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le... OMIM:231550
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Pulmonary carcinoid tumor, Aortic root aneurysm, Congestive heart failure,... ORPHA:363618
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... ORPHA:91387
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... OMIM:605714
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche OMIM:614662
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Cryptorchidism, Death in infancy, Arrhythm... ORPHA:1194
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR... ORPHA:99931
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Cardiomyopathy, Palpitations, Neoplasm of the pancreas,... ORPHA:892
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Hypogonadotropic hypogonadism, Central adrenal insufficiency, Delayed puberty OMIM:612079
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... ORPHA:464321
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Diabetes mellitus, Respiratory failure, Respiratory insufficiency OMIM:613845
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Adrenal gland agenesis, Pulmon... OMIM:611812
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Pseudohypoaldosteronism, Type Iib
Pseudohypoaldosteronism, Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Pseudohypoaldosteronism, Hypertension OMIM:614495
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insufficiency, Primary adren... OMIM:240300
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
3-Methylglutaconic Aciduria Type 7
Hypothyroidism, Pneumothorax, Respiratory failure, Cardiomyopathy ORPHA:445038
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory failure OMIM:620166
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Respiratory failure, Amyotrophic lateral sclerosis OMIM:613954
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Respiratory insufficiency, Mit... ORPHA:746
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Subdural hemorrhage, Death in childhood, Death in infancy, Cerebral hemorrhage, Resp... OMIM:620278
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Death in infancy, Neonatal death, Pulmonary arterial hypertension, Res... OMIM:605711
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Decreased circulating renin level, Stroke, Decreased c... ORPHA:320
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia, Intraventricular hemorrhage, Reduced circulating growth hormone concentration OMIM:616430
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, CNS foam cells, Death in childhood, Foa... OMIM:607625
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Pheochromocytoma, Renal artery stenosi... OMIM:171300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Hyperhidrosis, Respiratory failure, Degeneration of... OMIM:604320
Hypophosphatasia, Infantile
Recurrent respiratory infections, Intracranial hemorrhage, Death in infancy, Stillbirth OMIM:241500
Flynn-Aird Syndrome
Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland, Ather... ORPHA:2047
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology OMIM:300858
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage ORPHA:84090
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage ORPHA:49566
Pseudohypoaldosteronism, Type Iic
Pseudohypoaldosteronism, Hypertension, Decreased circulating renin level OMIM:614492
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Abnormality of the pulmonary vasculature, Transudative p... ORPHA:284227
Pseudo-Torch Syndrome 3
Respiratory insufficiency, Hypertension, Death in infancy, Cerebral hemorrhage OMIM:618886
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... OMIM:620300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Subdural hemorrhage, Respiratory insufficiency due to muscle weakness OMIM:618291
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory fai... OMIM:614922
Nephronophthisis 2
Respiratory insufficiency, Pulmonary insufficiency, Hypertension, Respiratory failure, Pulmonary ... OMIM:602088
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Pseudohypoaldosteronism, Type Iie
Pseudohypoaldosteronism, Hypertension OMIM:614496
Cholesteryl Ester Storage Disease
Hepatic foam cells, Adrenal calcification, Adrenal insufficiency, Portal hypertension, Death in i... OMIM:278000
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Degeneration of anterior horn cells ORPHA:2254
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... OMIM:187300
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effus... ORPHA:340
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... OMIM:277450
Bannayan-Riley-Ruvalcaba Syndrome
Arteriovenous malformation, Subcutaneous hemorrhage, Thyroid carcinoma, Telangiectasia, Angina pe... ORPHA:109
Immunodeficiency, Common Variable, 10
Recurrent pneumonia, Decreased response to growth hormone stimulation test, Central adrenal insuf... OMIM:615577
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Recurrent upper respiratory tract infections, Adrenocorticotropin deficient adrenal ... ORPHA:293978
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Adrena... ORPHA:99827
Familial Hypoaldosteronism
Hypotension, Adrenal insufficiency, Increased circulating renin level, Decreased circulating aldo... ORPHA:427
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Aa Amyloidosis
Adrenal insufficiency, Hypotension, Hypothyroidism ORPHA:85445
Leigh Syndrome, Nuclear
Respiratory failure, Respiratory insufficiency OMIM:256000
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension, Respiratory failure OMIM:619483
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy... ORPHA:542323
Wiskott-Aldrich Syndrome
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... ORPHA:906
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o... ORPHA:95699
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory tract infection, Shortened PR... ORPHA:308552
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Acute Adrenal Insufficiency
Hypotension, Androgen insufficiency, Increased circulating ACTH level, Recurrent acute respirator... ORPHA:95409
Alg1-Cdg
Respiratory failure, Cardiomyopathy ORPHA:79327
Menkes Disease
Intracranial hemorrhage, Death in childhood OMIM:309400
Liddle Syndrome 2
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:618126
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Reni Syndrome
Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Hypertriglyceridemia OMIM:617575
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts, Pleural effusion, Abnorm... ORPHA:464329
Avian Influenza
Pneumonia, Congestive heart failure, Pleural effusion, Pneumothorax, Respiratory failure, Miscarr... ORPHA:454836
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage ORPHA:398189
Pulmonary Alveolar Microlithiasis
Bronchiectasis, Right ventricular failure, Bronchitis, Respiratory insufficiency, Subpleural inte... ORPHA:60025
Polycythemia Vera
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage OMIM:263300
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Pleur... ORPHA:2905
Liddle Syndrome 1
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:177200
Propionic Acidemia
Cerebellar hemorrhage, Pancreatitis, Cardiomyopathy OMIM:606054
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi... OMIM:177850
Cushing Disease
Bruising susceptibility, Increased circulating cortisol level, Increased urinary cortisol level, ... ORPHA:96253
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia, Respi... OMIM:310200
Riddle Syndrome
Neonatal asphyxia, Pneumonia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Telangiectasi... ORPHA:420741
Corticosterone Methyloxidase Type I Deficiency
Decreased circulating aldosterone level, Hypotension, Increased circulating renin level OMIM:203400
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Glycogen Storage Disease Ii
Sinus tachycardia, Respiratory insufficiency, Dilatation of the cerebral artery, Pleural effusion... OMIM:232300
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:218030
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Cerebral vasculitis, Recurrent sinusitis, Subarachnoid hemorrhage, Recurrent... OMIM:243700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure OMIM:606612
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Primary adrenal insufficiency, Arrhythmia, H... OMIM:530000
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Respiratory insufficiency, Tricuspid regurgitation, Retinal arterial tortuosity, Cry... OMIM:620371
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Carney Triad
Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh... ORPHA:139411
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy ORPHA:2481
Prolactinoma
Secondary growth hormone deficiency, Hypotension, Male hypogonadism, Adrenocorticotropin deficien... ORPHA:2965
Erythrocytosis, Familial, 1
Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:2759
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Ecchymo... ORPHA:324636
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency ORPHA:44
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Beta-Thalassemia Intermedia
Cholelithiasis, Hypogonadism, Adrenal insufficiency, High-output congestive heart failure, Pulmon... ORPHA:231222
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Adr... ORPHA:289548
Boutonneuse Fever
Vasculitis, Respiratory failure, Petechiae ORPHA:83313
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Respiratory failure, Cryptorchidism ORPHA:98905
Peroxisome Biogenesis Disorder 2B
Adrenal insufficiency OMIM:202370
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency, Death in infanc... OMIM:608836
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Triosephosphate Isomerase Deficiency
Cholelithiasis, Respiratory insufficiency, Congestive heart failure, Death in infancy, Death in a... OMIM:615512
Mercury Poisoning
Hypotension, Interstitial pneumonitis, Tachycardia, Hypertension, Respiratory failure ORPHA:330021
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Cardiorespiratory arrest, Conges... ORPHA:3342
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Increased circulating cortisol level, Increased urinary cortisol level... ORPHA:99889
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Bradycardia, Recurrent infections due to aspiration, Intercostal m... ORPHA:70
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98754
Isovaleric Acidemia
Cerebellar hemorrhage OMIM:243500
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Neuroblastoma
Hypertension, Elevated circulating catecholamine level, Abnormal bleeding ORPHA:635
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Pleural effusion, Telangiectasia of the ... ORPHA:679
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure OMIM:250940
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Abs... ORPHA:168558
Abeta Amyloidosis, Dutch Type
Stroke, Death in early adulthood, Cerebral hemorrhage ORPHA:100006
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Cryptorchidism, Death in childhood OMIM:619847
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Cardiomyopathy, Congestive heart failure, Arrhythmia, Acute pancreatiti... ORPHA:26791
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:98793
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Pancreatitis, Cardiomyopathy OMIM:251000
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia OMIM:617895
Xp21 Deletion Syndrome
Hypogonadotropic hypogonadism, Adrenal insufficiency, Primary adrenal insufficiency, Hypertriglyc... ORPHA:261476
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177904
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, Respiratory failure OMIM:620249
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... ORPHA:177901
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Respiratory failure OMIM:607598
Steinert Myotonic Dystrophy
Hyperinsulinemia, Prolonged PR interval, Secondary hyperparathyroidism, Male hypogonadism, Cholel... ORPHA:273
Acys Amyloidosis
Stroke, Death in early adulthood, Cerebral hemorrhage ORPHA:100008
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure ORPHA:98913
Nocardiosis
Pneumonia, Emphysema, Pleural effusion, Abnormality of the adrenal glands, Pneumothorax, Pleuriti... ORPHA:31204
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Atelectasis, Respiratory insufficiency, Hypertrophic cardiomyopathy, Dilatation of th... ORPHA:365
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Adrenal insufficiency, Hypohidrosis, Orthostatic hypotension OMIM:615510
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Cerebral ischemia, ... ORPHA:54595
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Respiratory insufficiency, Congestive heart failure, Arrhythmia, Respirat... OMIM:609015
Addison Disease
Thymoma, Hypotension, Type I diabetes mellitus, Androgen insufficiency, Adrenal calcification, In... ORPHA:85138
Adrenomyodystrophy
Primary adrenal insufficiency ORPHA:977
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis ORPHA:300298
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Abnormal circulating dehydroepiandrosterone concentration, Increased circul... ORPHA:90794
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypopituitarism, Adrenal insufficiency, High-output congestive heart fail... ORPHA:231226
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Pulmonary arterial hypertension, Respiratory failure, Congestive heart failure OMIM:616482
Late-Onset Isolated Acth Deficiency
Hypotension, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin def... ORPHA:199299
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Intraventricular hemo... OMIM:619055
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... ORPHA:99901
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Tuberous Sclerosis Complex
Pituitary adenoma, Pheochromocytoma, Pulmonary lymphangiomyomatosis, Respiratory tract infection,... ORPHA:805
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Amyotrophic Lateral Sclerosis
Xerostomia, Motor neuron atrophy, Respiratory failure, Amyotrophic lateral sclerosis ORPHA:803
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Stormorken Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrhage OMIM:185070
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Respiratory insufficiency, Atelectasis, Reduced left ventricular ejection fractio... ORPHA:258
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Patent ductus arteriosus, Cryptorchidism OMIM:620327
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Hypertrophic cardiomyopathy, Bile duct proliferation, Prolonged prothr... OMIM:618329
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Parkes Weber Syndrome
Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Venous malformation, Spinal a... ORPHA:90307
Tarp Syndrome
Tetralogy of Fallot, Subdural hemorrhage, Neonatal death OMIM:311900
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... OMIM:269200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Respiratory failure, Death in childhood, Respiratory insufficiency d... OMIM:220110
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Distal Deletion 13Q
Primary adrenal insufficiency ORPHA:1590
Beta-Thalassemia Major
Dilated cardiomyopathy, Hypopituitarism, Adrenal insufficiency, High-output congestive heart fail... ORPHA:231214
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ... ORPHA:3260
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Adre... ORPHA:90062
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Ovarian gonadoblastoma... ORPHA:251510
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Respiratory insufficiency, Absent gallbladder, Cryptorchidism, Heart mur... ORPHA:163979
Hydranencephaly
Atrophic pituitary gland, Dilatation of the ventricular cavity, Abnormal internal carotid artery ... ORPHA:2177
Zellweger Syndrome
Primary adrenal insufficiency, Cryptorchidism, Death in infancy, Respiratory insufficiency ORPHA:912
Abetalipoproteinemia
Abnormal bleeding, Congestive heart failure, Hypocholesterolemia, Hypothyroidism, Prolonged proth... ORPHA:14
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Telangiectasia, Diabetes mellitus, Respirator... ORPHA:125
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Myasthenia Gravis
Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Raynaud phenomenon, Abnorm... ORPHA:589
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Systolic heart murmur, Respiratory failure, Anomalous pulmonary venous r... ORPHA:555874
Prader-Willi Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Adre... OMIM:176270
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Respiratory insufficiency, Concentric hypertrophic cardiomyopathy, Death ... OMIM:610505
Hellp Syndrome
Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged prothrombin time, ... ORPHA:244242
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Carotid artery occlusion, Aortic regurgitation, Atherosclerosis, Delayed m... ORPHA:740
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Respiratory failure, Prolonged prothrombin time ORPHA:88618
Adrenoleukodystrophy
Hypogonadism, Primary adrenal insufficiency OMIM:300100
1P31P32 Microdeletion Syndrome
Moyamoya phenomenon, Intraventricular hemorrhage ORPHA:401986
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in childhood OMIM:617186
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh... ORPHA:394
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Infantile Krabbe Disease
Respiratory failure, Abnormal heart rate variability, Cherry red spot of the macula ORPHA:206436
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:496641
Poliomyelitis
Hypovolemic shock, Hypotension, Hypertension, Respiratory failure, Respiratory failure requiring ... ORPHA:2912
Adrenomyeloneuropathy
Adrenocorticotropic hormone excess, Adrenocortical abnormality, Adrenal insufficiency, Primary ad... ORPHA:139399
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Lysosomal Acid Lipase Deficiency
Hypotension, Adrenal calcification, Xanthelasma, Primary adrenal insufficiency, Coronary artery a... ORPHA:275761
Koolen-De Vries Syndrome Due To A Point Mutation
Precocious puberty, Cardiomyopathy, Decreased response to growth hormone stimulation test, Primar... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Precocious puberty, Cardiomyopathy, Decreased response to growth hormone stimulation test, Primar... ORPHA:363958
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Respiratory insufficiency, Death in childhood, Recurrent respiratory infections, Pul... OMIM:618278
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Respiratory failure, Cardiomyopathy ORPHA:158687
Listeriosis
Pneumonia, Arteritis, Congestive heart failure, Stroke, Miscarriage, Myocarditis, Respiratory fai... ORPHA:533
Menkes Disease
Gastrointestinal hemorrhage, Spontaneous hematomas, Arterial stenosis, Venous insufficiency, Vasc... ORPHA:565
Arachnoid Cyst
Subarachnoid hemorrhage, Abnormality of the endocrine system ORPHA:2356
Geleophysic Dysplasia 3
Pneumonia, Respiratory failure, Mitral regurgitation OMIM:617809
Medulloblastoma
Cerebellar hemorrhage, Neoplasm of the lung ORPHA:616
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Fetal intraventricular hemorrhage OMIM:618480
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Patent ductus arteriosus, Bradycardia, Resp... OMIM:617248
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Male hypogonadism, Primary adrenal insufficiency ORPHA:139396
Tbck-Related Intellectual Disability Syndrome
Respiratory insufficiency, Decreased response to growth hormone stimulation test, Central adrenal... ORPHA:488632
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Dilatation of the cerebral artery, Emphysema, Portal hypertension, Bil... OMIM:613658
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure ORPHA:3240
Leigh Syndrome
Hypertrophic cardiomyopathy, Respiratory failure, Congestive heart failure ORPHA:506
Radio-Renal Syndrome
Chylothorax, Pleural effusion, Respiratory failure ORPHA:3015
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage ORPHA:25
Peroxisome Biogenesis Disorder 4B
Adrenal insufficiency OMIM:614863
Glycerol Kinase Deficiency
Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, Cryptorchidism, Hypertrig... OMIM:307030
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure OMIM:617301
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Abnormal lung lobation, Stillbirth OMIM:236680
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ... OMIM:619472
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Pulmonary hypoplasia OMIM:273395
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, D... OMIM:252010
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Premature coronary artery athe... ORPHA:90324
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Stroke, Pulmonary arterial hyper... ORPHA:79282
Autoinflammatory Disease, Systemic, X-Linked
Cerebral hemorrhage OMIM:301081
Fraser Syndrome 2
Hypoplasia of the thymus, Respiratory failure OMIM:617666
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Bruising susceptibility, Arterial rupture, Aortic aneurysm, Cerebral hemorrh... ORPHA:536545
Osteogenesis Imperfecta
Arterial dissection, Aortic regurgitation, Neonatal respiratory distress, Aortic root aneurysm, A... ORPHA:666
Dpagt1-Cdg
Prolonged QT interval, Stroke-like episode, Intracranial hemorrhage, Pulmonary hypoplasia ORPHA:86309
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Spontaneous pneumothorax, Recurrent pneumonia, Portal hypertension, ... ORPHA:731
Superficial Siderosis
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Subarachnoid... ORPHA:247245
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Hydrocele testis OMIM:613603
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Pearson Syndrome
Cardiomyopathy, Decreased response to growth hormone stimulation test, Exocrine pancreatic insuff... ORPHA:699
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Respiratory failure, Respiratory failure requiring assist... ORPHA:79138
Myhre Syndrome
Aortic valve stenosis, Respiratory insufficiency, Cryptorchidism, Coarctation of aorta, Respirato... OMIM:139210
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Decreased response to growth hormone stimulation test, Telangiectasia of the skin, Central adrena... OMIM:616007
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage ORPHA:79284
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Dilatation of the si... OMIM:613795
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Patent ductus arteriosus, Cryptorchidism, Cerebral hemorrhage OMIM:616682
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Intercostal muscle weakness, Respiratory insufficiency due to muscle weakne... ORPHA:2020
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros... OMIM:201750
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent sinopulmonary infections, Respiratory failure, Recurrent respirato... ORPHA:647
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Pulmonary hypoplasia, Hypertrophic cardiomyopathy, Cryptorchidis... ORPHA:96334
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Patent ductus arteriosus, Death in infancy OMIM:300868
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Intracranial he... OMIM:613406
Costello Syndrome
Respiratory insufficiency, Hypertrophic cardiomyopathy, Arrhythmia, Pneumothorax, Lymphangiectasi... OMIM:218040
Niemann-Pick Disease Type C
Aspiration pneumonia, Respiratory insufficiency, Foam cells, Abnormal lung morphology, Bone-marro... ORPHA:646
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... ORPHA:2556
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure, Abnormal circulating calcium-phosphate regulating hormone concentration, Cry... ORPHA:2636
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Emphysema, Transient ischemic attack, Ischemic stroke, Absent gallbladder, Abnormal common caroti... ORPHA:500150
Pallister-Hall Syndrome
Precocious puberty, Secondary growth hormone deficiency, Respiratory insufficiency, Hypopituitari... ORPHA:672
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Dilated cardiomyopathy, Pneumothorax, Bradycardia, Respiratory failure ORPHA:79404
Doors Syndrome
Congenital hypothyroidism, Double outlet right ventricle, Adrenal hyperplasia, Aspiration pneumonia ORPHA:79500
Ulbright-Hodes Syndrome
Cryptorchidism, Pneumothorax, Maternal diabetes, Respiratory failure, Pulmonary hypoplasia ORPHA:3404
Ear-Patella-Short Stature Syndrome
Breast aplasia, Respiratory failure, Cryptorchidism ORPHA:2554
Joubert Syndrome 21
Respiratory failure, Pulmonary hypoplasia OMIM:615636
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
D-Bifunctional Protein Deficiency
Primary adrenal insufficiency, Bile duct proliferation OMIM:261515
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating prolactin c... ORPHA:79318
Microphthalmia, Syndromic 2
Aortic valve stenosis, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Double outlet right... OMIM:300166
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Decreased testicular size, Primary adrenal insufficiency, Bilat... ORPHA:2753
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage OMIM:619714
Acute Transverse Myelitis
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension ORPHA:139417
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Cryptorchidism, Stillbirth, Dilatation of the sinus of Valsalva, Respi... OMIM:304120
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... OMIM:175780
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
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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