HLASA
MCID: HYD058
MIFTS: 63

Hydrops, Lactic Acidosis, and Sideroblastic Anemia (HLASA)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

MalaCards integrated aliases for Hydrops, Lactic Acidosis, and Sideroblastic Anemia:

Name: Hydrops, Lactic Acidosis, and Sideroblastic Anemia 56 73 29 6
Hlasa 56 73
Edema 43 17
Hydrops-Lactic Acidosis-Sideroblastic Anemia-Multisystemic Failure Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in early infancy
one patient has been reported (last curated july 2016)


HPO:

31
hydrops, lactic acidosis, and sideroblastic anemia:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

UniProtKB/Swiss-Prot : 73 Hydrops, lactic acidosis, and sideroblastic anemia: A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease.

MalaCards based summary : Hydrops, Lactic Acidosis, and Sideroblastic Anemia, also known as hlasa, is related to macular retinal edema and brain edema. An important gene associated with Hydrops, Lactic Acidosis, and Sideroblastic Anemia is LARS2 (Leucyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are NF-kappaB Signaling and Arachidonic acid metabolism. The drugs Betamethasone and Glyburide have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and heart, and related phenotypes are seizures and eeg abnormality

More information from OMIM: 617021

Related Diseases for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Diseases related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1986)
# Related Disease Score Top Affiliating Genes
1 macular retinal edema 34.1 VEGFA ALB
2 brain edema 33.0 VEGFA MIP KNG1 AQP4 ALB
3 acquired angioedema 32.7 SERPING1 C1S
4 hereditary angioedema 32.6 SERPING1 KNG1 C1S
5 papilledema 32.4 VEGFA ALB
6 c1 inhibitor deficiency 32.1 SERPING1 KNG1 C1S
7 arthus reaction 32.1 ALOX5 ALB
8 severe pre-eclampsia 31.8 VEGFA KNG1 ALB
9 background diabetic retinopathy 30.8 VEGFA ALB
10 congestive heart failure 30.6 VEGFA KNG1 ALB
11 hypertensive encephalopathy 30.6 VEGFA ALB
12 optic nerve disease 30.6 VEGFA AQP4 ALB
13 severe nonproliferative diabetic retinopathy 30.5 VEGFA ALB
14 meningitis 30.5 VEGFA AQP4 ALB
15 angioedema 30.4 SERPING1 PTGS2 PTGS1 KNG1 C1S ALOX5
16 macular degeneration, age-related, 1 30.3 VEGFA SERPING1 C1S ALB
17 capillary leak syndrome 30.3 SERPING1 C1S ALB
18 cerebral artery occlusion 30.2 PTGS2 AQP4
19 intraocular pressure quantitative trait locus 30.2 VEGFA MIP AQP4
20 pulmonary hypertension 30.1 VEGFA PTGS2 ALOX5 ALB
21 mediastinitis 30.1 MPO ALB
22 hypertensive retinopathy 30.0 VEGFA ALB
23 glomerulonephritis 30.0 MPO C1S ALOX5 ALB
24 cataract 30.0 VEGFA PTGS2 MIP AQP4 ALB
25 respiratory failure 29.9 PTGS1 MPO ALOX5 ALB
26 inappropriate adh syndrome 29.9 AQP4 ALB
27 peripheral nervous system disease 29.8 VEGFA AQP4 ALB
28 hantavirus hemorrhagic fever with renal syndrome 29.8 VEGFA ALB
29 tuberculous meningitis 29.7 VEGFA ALOX5
30 peripheral vascular disease 29.7 VEGFA KNG1 ALB
31 bone inflammation disease 29.7 VEGFA PTGS2 ALB
32 hypertensive nephropathy 29.6 VEGFA ALB
33 bursitis 29.6 PTGS2 KNG1
34 hypersensitivity vasculitis 29.6 MPO ALB
35 communicating hydrocephalus 29.5 AQP4 ALB
36 bronchitis 29.5 VEGFA MPO ALB
37 arteries, anomalies of 29.5 VEGFA KNG1 ALB
38 bronchopneumonia 29.5 MPO ALB
39 pain agnosia 29.4 PTGS2 KNG1 ALB
40 gastrointestinal ulceration, recurrent, with dysfunctional platelets 29.4 PTGS2 PTGS1
41 decubitus ulcer 29.3 VEGFA ALB
42 urticaria 29.1 SERPING1 PTGS2 PTGS1 C1S ALOX5
43 cystitis 29.1 VEGFA PTGS2 KNG1
44 atherosclerosis susceptibility 29.1 VEGFA MPO ALOX5 ALB
45 rheumatic disease 29.0 PTGS2 PTGS1 C1S
46 peptic ulcer disease 29.0 PTGS2 PTGS1 ALB
47 rhinitis 28.8 PTGS1 KNG1 ALB
48 constipation 28.8 PTGS2 PTGS1 AQP4
49 gastroesophageal reflux 28.8 PTGS2 PTGS1 MPO
50 allergic rhinitis 28.7 MPO KNG1 ALOX5

Graphical network of the top 20 diseases related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia:



Diseases related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Symptoms & Phenotypes for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Human phenotypes related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 eeg abnormality 31 HP:0002353
3 hypertension 31 HP:0000822
4 respiratory insufficiency 31 HP:0002093
5 intrauterine growth retardation 31 HP:0001511
6 ventricular septal defect 31 HP:0001629
7 arrhythmia 31 HP:0011675
8 decreased liver function 31 HP:0001410
9 patent ductus arteriosus 31 HP:0001643
10 thrombocytopenia 31 HP:0001873
11 lactic acidosis 31 HP:0003128
12 oligohydramnios 31 HP:0001562
13 sideroblastic anemia 31 HP:0001924

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
abnormal eeg
cerebral dysfunction

Cardiovascular Heart:
ventricular septal defect
arrhythmias
cardiac dysfunction

Hematology:
thrombocytopenia
sideroblastic anemia
coagulation defects due to liver disease

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
fetal hydrops

Growth Other:
intrauterine growth restriction

Muscle Soft Tissue:
mildly decreased mitochondrial complex i

Respiratory:
respiratory insufficiency

Cardiovascular Vascular:
patent ductus arteriosus
pulmonary hypertension

Metabolic Features:
lactic acidosis

Abdomen Liver:
liver dysfunction
decreased mitochondrial complex i

Respiratory Lung:
hyaline membrane disease

Laboratory Abnormalities:
decreased mitochondrial respiratory complex i in liver and muscle

Clinical features from OMIM:

617021

MGI Mouse Phenotypes related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.23 ALB ALOX5 AQP4 MPO PTGS1 PTGS2

Drugs & Therapeutics for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Drugs for Hydrops, Lactic Acidosis, and Sideroblastic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 854)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
2
Glyburide Approved Phase 4 10238-21-8 3488
3
Manidipine Approved, Investigational Phase 4 89226-50-6
4
Simvastatin Approved Phase 4 79902-63-9 54454
5
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
6
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
7
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
8
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
9
Linagliptin Approved Phase 4 668270-12-0 10096344
10
Bromhexine Approved Phase 4 3572-43-8
11
Mirabegron Approved Phase 4 223673-61-8 9865528
12
Desogestrel Approved Phase 4 54024-22-5 40973
13
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
14
Nicardipine Approved, Investigational Phase 4 55985-32-5 4474
15
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
16
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
17
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
18
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
19
Gliclazide Approved Phase 4 21187-98-4 3475
20
Bevacizumab Approved, Investigational Phase 4 216974-75-3
21
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
22
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
23
Losartan Approved Phase 4 114798-26-4 3961
24
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
25
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
26
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
27
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
28
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
29
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 5095 497540
30
Homatropine Approved Phase 4 87-00-3
31
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
32
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
33
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
34
Codeine Approved, Illicit Phase 4 76-57-3 5284371
35
Ethanol Approved Phase 4 64-17-5 702
36
Colchicine Approved Phase 4 64-86-8 6167 2833
37
Piroxicam Approved, Investigational Phase 4 36322-90-4 5280452 54676228
38
Tenoxicam Approved Phase 4 59804-37-4 5312154
39
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
40
Travoprost Approved Phase 4 157283-68-6 5282226
41
Febuxostat Approved Phase 4 144060-53-7 134018
42
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
43
Desflurane Approved Phase 4 57041-67-5 42113
44
Budesonide Approved Phase 4 51333-22-3 63006 5281004
45
Benzydamine Approved Phase 4 642-72-8, 100-46-9 7504
46
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
47
Clarithromycin Approved Phase 4 81103-11-9 84029
48
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
49
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
50
Petrolatum Approved, Investigational Phase 4 8009-03-8

Interventional clinical trials:

(show top 50) (show all 3023)
# Name Status NCT ID Phase Drugs
1 POSTERIOR SUB-TENON'S CAPSULE INJECTION OF BEVACIZUMAB FOR TREATMENT OF DIFFUSE DIABETIC MACULAR EDEMA Unknown status NCT00567372 Phase 4 bevacizumab (Sub-tenon´s injection)
2 Analysis of Cytokines in Response to Treatment of Diabetic Macular Edema With 0.3mg Lucentis Unknown status NCT03097068 Phase 4 Lucentis
3 Combined Treatment of Intravitreous Bevacizumab and Triamcinolone for the Treatment or Macular Edema Secondary to Central Retinal Vein Occlusion Unknown status NCT00566761 Phase 4 bevacizumab and triamcinolone
4 Phase 4 Study of Intravitreal Aflibercept Injection for Recalcitrant Central Retinal Vein Occlusion Associated Macular Edema Despite Prior Anti-Vascular Endothelial Growth Factor (VEGF) Therapy. (ARChiMEDES) Unknown status NCT01857544 Phase 4 Aflibercept
5 Evaluation of an Additional Therapeutic Approach to Diabetic Macular Edema by Combining Standard Therapy (Intravitreal Injection of a VEGF-inhibitor) With Micropulse Diode Laser Treatment in a Randomized, Controlled Proof of Concept Study Unknown status NCT02059772 Phase 4 ranibizumab
6 Compression Versus Anti-Embolism Stockings in Patients With Leg Edema: Objective Investigation of Interface Compression and Edema Measurements, Clinical Outcomes, and Quality of Life. Unknown status NCT00766974 Phase 4
7 To Compare the Efficacy of Monotherapy With Anti-Vascular Endothelial Growth Factor (Ranibizumab or Bevacizumab) Versus Combination Therapy With Anti-Vascular Endothelial Growth Factor and End-point-management Grid Laser Photocoagulation for Diabetic Macular Edema Unknown status NCT02462304 Phase 4 ranibizumab;Bevacizumab
8 Phase 4 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
9 A Single Arm, Single Dose Study to Evaluate the Effect of Intravitreal Dexamethasone Implant (Ozurdex®) on Hard Exudates of Diabetic Macular Edema Unknown status NCT02399657 Phase 4 Intravitreal dexamethasone 0.7mg implant
10 Impact of Fluid Resuscitation Therapy on Pulmonary Edema as Measured by Alveolar Fluid Clearance in Patients With Acute Respiratory Distress Syndrome (ARDS) Unknown status NCT01763853 Phase 4 4% albumin
11 Predictors of Treatment Response to Aflibercept and Aqueous Cytokine Levels in Patients With Persistent Diabetic Macular Edema Following Treatment With Ranibizumab: An Interventional Prospective Study Unknown status NCT02651168 Phase 4
12 The Effect of Bevacizumab on Peripheral Retinal Changes as Imaged by Wide -Field Fluorescein Angiography in Diabetic Macular Edema Unknown status NCT02096874 Phase 4 Bevacizumab
13 Effect of Aflibercept (Eylea®) in the Management of Bevacizumab (Avastin®) Resistant Diabetic Macular Edema Unknown status NCT02924987 Phase 4 Aflibercept Injection
14 Evaluation of the "Treat-and-extend" Scheme in Patients With Retinal Vein Occlusion (RVO) With and Without LASER Treatment of Ischaemic Retinal Areas Unknown status NCT02522897 Phase 4 Ranibizumab
15 Manidipine Versus Amlodipine in Patients With Hypertension: Effects on Peripheral Edema Evaluated by Bioimpedance Analysis Unknown status NCT03106597 Phase 4 Manidipine 20mg;Amlodipine 10mg
16 Panretinal Photocoagulation for Proliferative Diabetic Retinopathy in a Single Session Using Low Fluence Parameters Unknown status NCT01023698 Phase 4
17 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
18 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
19 Randomized Trial Comparing Injection Frequency Between Aflibercept and Ranibizumab in Patients With Central Retinal Vein Occlusion With a Treat and Extend Algorithm Unknown status NCT02274259 Phase 4 Aflibercept;Ranibizumab
20 Longterm Efficiency and Safety of Intravitreal Injections With Bevacizumab in Patients With Neovascularisation or Macular Edema Unknown status NCT03211741 Phase 4 Bevacizumab Injection [Avastin]
21 The Effects of Thiazolidinedione on the Diabetic Retinopathy and Nephropathy Unknown status NCT01175486 Phase 4 Actos (Pioglitazone);Acarbose
22 Epinephrine Sprayed on the Papilla for the Prevention of Post-ERCP Pancreatitis Unknown status NCT02839356 Phase 4 epinephrine;normal saline
23 Aflibercept Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT02033018 Phase 4 Aflibercept Injection
24 Ranibizumabe Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT01246089 Phase 4 ranibizumab injection
25 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4 usage oral angiogenesis inhibitor;stop oral angiogenesis inhibitor
26 Evaluation of Fluid Retention Due to Superpotent Topical Corticosteroid in Patients With Bullous Pemphigoid Unknown status NCT02360202 Phase 4 Clobetasol Propionate cream treatment
27 Role of Phosphodiesterase 5 Inhibitors (PDE5i) (Sildenafil) in Management of Distal Ureteral Stone Unknown status NCT02519153 Phase 4 Sildenafil
28 A One-year Randomized Controlled Trial Evaluating the Impact of Pioglitazone Versus Linagliptin on Bone Turnover Markers Unknown status NCT02429232 Phase 4 Pioglitazone;Linagliptin
29 The ABC Trial - Does All-Blood Cardioplegia Prevent Blood Transfusion in Cardiac Surgery Unknown status NCT01623193 Phase 4
30 Effects of Ranibizumab to Delay or Regression Non-proliferative Diabetic Retinopathy(NPDR) With DME Assessed by Microaneurysm Changes: A Pilot Study Unknown status NCT02834663 Phase 4 Lucentis
31 Efficacy and Safety of the Non-Steroidal Anti-Inflammatory Drug Etoricoxib in the Treatment of Acute Ankle Sprain in Sports: A Randomized Double-Blind Comparative Study Among 2 Treatments in the Acute Phase Unknown status NCT00525993 Phase 4 etoricoxib 90mg 14 days;etoricoxib 60mg daily for 14 days
32 Peripheral Perfusion Targeted Fluid Management in Critically Ill Patients: a Pilot Study Unknown status NCT01397474 Phase 4
33 EFFECTS OF IMMEDIATE ARGON LASER PERIPHERAL IRIDOPLASTY Versus CONVENTIONAL SYSTEMIC MEDICAL THERAPY ON OPTIC NERVE HEAD STRUCTURE AND FUNCTION OF ACUTE PRIMARY ANGLE CLOSURE EYES Unknown status NCT00485238 Phase 4 Intravenous acetazolamide
34 Home Oxygen Therapy in the Ambulatory Treatment of Bronchiolitis Unknown status NCT01216553 Phase 4
35 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Unknown status NCT02095665 Phase 4 Mirabegron;Tamsulosin;Tylenol #3
36 Effects of Spironolactone on Collagen Metabolism in Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
37 The Effects of the Etonogestrel 0.12mg/Ethinyl Estradiol 0.015mg Vaginal Ring (NuvaRing®) on Vaginal Innate and Inflammatory Biomarkers Unknown status NCT01448291 Phase 4 Etonogestrel /Ethinyl Estradiol Contraceptive Vaginal Ring
38 Comparing Pain and Swelling After Surgical Extraction of Mandibular Third Molar in Dexamethasone Injection and Without Corticosteroid Methods Unknown status NCT01896427 Phase 4 21-benzyloxy-9alpha-fluoro-16alpha-methylpregna-1,4-dien-11beta,17alpha-diol-3,20-dione
39 A Randomized, Double-blind Study to Evaluate the Efficacy of Iguratimod Versus Placebo in Patients With Rheumatoid Arthritis on Magnetic Resonance Imaging (MRI) Unknown status NCT01893151 Phase 4 Iguratimod;Iguratimod placebo
40 A MULTICENTRE RANDOMIZED CONTROLLED CLINICAL TRIAL ON THE EFFICACY OF TEGADERM CHG IN REDUCING CATHETER RELATED BLOOD STREAM INFECTIONS Unknown status NCT01142934 Phase 4
41 Evaluation of Potential Benefits of Using Steroids in the Postoperative Transient Hypoparathyroidism Total Thyroidectomy Unknown status NCT02652884 Phase 4 phosphate and betamethasone acetate, 2 mL.;saline 0.9% NaCl
42 Behavior and Exercise Versus Drug Treatment in Men With Nocturia Unknown status NCT00824200 Phase 4 tamsulosin (alpha-adrenergic antagonist medication);placebo
43 Effectiveness of Low Level Laser at the Auriculotherapy Points, in Reducing Postoperative Pain in Third Molar Surgery Unknown status NCT02657174 Phase 4
44 Remifentanil for c-Section With General Anesthesia in Severe Preeclamptic Patients Unknown status NCT00567957 Phase 4 Remifentanil;Saline
45 A Pilot Study to Determine if Intravitreal Injections of Pegaptanib Sodium (Macugen) Given Every 12 Weeks for a Year After an Induction Phase of Three Injections Every 6 Weeks Will Reduce the Progression of Proliferative Diabetic Retinopathy in Patients Without Significant Vitreous Hemorrhage in Comparison to Treatment With Retinal Photocoagulation Alone and After an Induction Phase Unknown status NCT01486771 Phase 4 Macugen ® (pegaptanib sodium)
46 Efficacy and Safety Study of Tolvaptan for Liver Cirrhotic Patients With Hyponatremia and Ascites: A Multi-center, Randomized, Double-blind, Placebo-controlled 4-weeks Clinical Trial Unknown status NCT01716611 Phase 4 Tolvaptan;placebo
47 Non-Invasive Positive Pressure Mask Ventilation vs Extrathoracic Biphasic Cuirass Ventilation in Patients With Acute Respiratory Failure: A Randomized Prospective Study. Unknown status NCT00331656 Phase 4
48 A Multicenter Study Comparing Efficacy and Safety of " Treat-and-Extend" Regimen Versus PRN Regimen of Conbercept in Neovascular Age-related Macular Degeneration Unknown status NCT02802657 Phase 4 Conbercept
49 Topical Application of ACULAR a Randomized, Vehicle Controlled Clinical Trial: Efficiency in Inhibiting Proliferative Retinopathy of Prematurity Unknown status NCT00634972 Phase 4 ACULAR;REFRESH TEARS;placebo
50 The Efficacy of Alpha-blockers for Expulsion of Distal Ureteral Stones Unknown status NCT00451061 Phase 4 Alfuzosin;Tamsulosin

Search NIH Clinical Center for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Cochrane evidence based reviews: edema

Genetic Tests for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Genetic tests related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia:

# Genetic test Affiliating Genes
1 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 29 LARS2

Anatomical Context for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

MalaCards organs/tissues related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia:

40
Brain, Lung, Heart, Endothelial, Eye, Bone, Breast

Publications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Articles related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia:

(show top 50) (show all 30540)
# Title Authors PMID Year
1
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 56 6
26537577 2016
2
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 6
23541342 2013
3
Oxygen resuscitation does not ameliorate neonatal hypoxia/ischemia-induced cerebral edema. 54 61
20143414 2010
4
A phase III randomized trial of the timing of meloxicam with iodine-125 prostate brachytherapy. 54 61
20350785 2010
5
Effectiveness of human atrial natriuretic peptide supplementation in pulmonary edema patients using the pulse contour cardiac output system. 54 61
20376887 2010
6
Expression of aquaporin 1 (AQP1) in human synovitis. 54 61
20149606 2010
7
Angioedema: 6 years experience with fourteen cases. 54 61
19709832 2010
8
Aquaporin-4 and traumatic brain edema. 54 61
20356447 2010
9
The effects of continuous positive airway pressure on plasma brain natriuretic peptide concentrations in patients presenting with acute cardiogenic pulmonary edema with preserved left ventricular systolic function. 54 61
20159397 2010
10
PPARgamma Agonists: Blood Pressure and Edema. 54 61
20069049 2010
11
Cellular characterization of the peritumoral edema zone in malignant brain tumors. 54 61
19681905 2009
12
Loss of astrocyte polarity marks blood-brain barrier impairment during experimental autoimmune encephalomyelitis. 54 61
19533155 2009
13
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. 54 61
19394045 2009
14
Bacillus anthracis edema toxin suppresses human macrophage phagocytosis and cytoskeletal remodeling via the protein kinase A and exchange protein activated by cyclic AMP pathways. 54 61
19307216 2009
15
Clara cell protein (CC16), a marker of lung epithelial injury, is decreased in plasma and pulmonary edema fluid from patients with acute lung injury. 54 61
19188556 2009
16
Bacillus anthracis edema toxin impairs neutrophil actin-based motility. 54 61
19349425 2009
17
Anthrax edema toxin induces maturation of dendritic cells and enhances chemotaxis towards macrophage inflammatory protein 3beta. 54 61
19273556 2009
18
Induction of mast cell accumulation, histamine release and skin edema by N49 phospholipase A2. 54 61
19400930 2009
19
Aquaporin-4 expression is increased in edematous meningiomas. 54 61
19153045 2009
20
Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. 54 61
18996102 2009
21
Brain natriuretic peptide levels in six basic underwater demolitions/SEAL recruits presenting with swimming induced pulmonary edema (SIPE). 54 61
19739476 2009
22
Role of aquaporin-4 in cerebral edema and stroke. 54 61
19096776 2009
23
[The relationship between the aquaporin-4 and brain edema, pathologic change, ultrastructure in peri-hematoma tissue in patients with intracerebral hemorrhage]. 54 61
19000426 2008
24
Genetic and gene expression studies implicate renin and endothelin-1 in edema caused by peroxisome proliferator-activated receptor gamma agonists. 54 61
18794727 2008
25
LFA-1 and MAC-1 mediate pulmonary recruitment of neutrophils and tissue damage in abdominal sepsis. 54 61
18197144 2008
26
An insilico approach to high altitude pulmonary edema - Molecular modeling of human beta2 adrenergic receptor and its interaction with Salmeterol & Nifedipine. 54 61
18512086 2008
27
Endothelins modulate inflammatory reaction in zymosan-induced arthritis: participation of LTB4, TNF-alpha, and CXCL-1. 54 61
18515326 2008
28
Involvement of cystic fibrosis transmembrane conductance regulator in infection-induced edema. 54 61
18462959 2008
29
Time course of imaging changes of GBM during extended bevacizumab treatment. 54 61
18389177 2008
30
Cardiac function and brain-type natriuretic peptide in first-time flash pulmonary edema. 54 61
18315994 2008
31
Diagnostic utility of B-type natriuretic peptide in critically ill patients with pulmonary edema: a prospective cohort study. 54 61
18194554 2008
32
Temporal and regional evolution of aquaporin-4 expression and magnetic resonance imaging in a rat pup model of neonatal stroke. 54 61
17622964 2007
33
Platelet activating factor receptors drive CXC chemokine production, neutrophil influx and edema formation in the lungs of mice injected with Tityus serrulatus venom. 54 61
17532358 2007
34
Optic disc edema, cystoid macular edema, and elevated vascular endothelial growth factor in a patient with POEMS syndrome. 54 61
17895817 2007
35
Differential roles of p55 and p75 tumor necrosis factor receptors on stretch-induced pulmonary edema in mice. 54 61
17435079 2007
36
Possible increased risk of pulmonary edema in patients with hepatorenal syndrome on adding octreotide to albumin / noradrenaline therapies. 54 61
17496406 2007
37
Serum B-type natriuretic peptide: a marker of fluid resuscitation after injury? 54 61
17563646 2007
38
Treatment of acute edema attacks in hereditary angioedema with a bradykinin receptor-2 antagonist (Icatibant). 54 61
17418383 2007
39
Relationship between survival and edema in malignant gliomas: role of vascular endothelial growth factor and neuronal pentraxin 2. 54 61
17473188 2007
40
Expression pattern of the water channel aquaporin-4 in human gliomas is associated with blood-brain barrier disturbance but not with patient survival. 54 61
17335082 2007
41
Peritumoral edema after stereotactic radiosurgery for intracranial meningiomas and molecular factors that predict its development. 54 61
17245625 2007
42
A review of progress in understanding the pathophysiology and treatment of brain edema. 54 61
17613227 2007
43
Contributions of histamine, prostanoids, and neurokinins to edema elicited by edema toxin from Bacillus anthracis. 54 61
17261611 2007
44
Diagnostic and prognostic utility of brain natriuretic Peptide in subjects admitted to the ICU with hypoxic respiratory failure due to noncardiogenic and cardiogenic pulmonary edema. 54 61
17426196 2007
45
[Evidence-based therapy of nephrotic edema]. 54 61
17448310 2007
46
["Free" iron, transferrin and ferritin levels in serum and their relation with severe malnutrition]. 54 61
17266850 2007
47
Aquaporins: role in cerebral edema and brain water balance. 54 61
17618977 2007
48
Recombinant human VEGF treatment transiently increases lung edema but enhances lung structure after neonatal hyperoxia. 54 61
16829629 2006
49
The Pro12Ala variant of the PPARG gene is a risk factor for peroxisome proliferator-activated receptor-gamma/alpha agonist-induced edema in type 2 diabetic patients. 54 61
16822823 2006
50
Extracellular heat shock protein 72 is a marker of the stress protein response in acute lung injury. 54 61
16679378 2006

Variations for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

ClinVar genetic disease variations for Hydrops, Lactic Acidosis, and Sideroblastic Anemia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LARS2 NM_015340.4(LARS2):c.1289C>T (p.Ala430Val)SNV Pathogenic 245613 rs879255606 3:45533058-45533058 3:45491566-45491566
2 LARS2 NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)SNV Pathogenic/Likely pathogenic 55871 rs199589947 3:45537808-45537808 3:45496316-45496316
3 LARS2 NM_015340.4(LARS2):c.457A>C (p.Asn153His)SNV Likely pathogenic 191173 rs786205560 3:45461162-45461162 3:45419670-45419670
4 LARS2 NM_015340.4(LARS2):c.388G>A (p.Ala130Thr)SNV Likely pathogenic 691521 3:45458998-45458998 3:45417506-45417506
5 LARS2 NM_015340.4(LARS2):c.683G>A (p.Arg228His)SNV Likely pathogenic 691519 3:45500311-45500311 3:45458819-45458819
6 LARS2 NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly)SNV Likely pathogenic 691520 3:45533082-45533082 3:45491590-45491590
7 LARS2 NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile)SNV Likely pathogenic 691522 3:45559449-45559449 3:45517957-45517957
8 LARS2 NM_015340.4(LARS2):c.1814G>A (p.Arg605His)SNV Uncertain significance 504796 rs142665087 3:45554680-45554680 3:45513188-45513188

UniProtKB/Swiss-Prot genetic disease variations for Hydrops, Lactic Acidosis, and Sideroblastic Anemia:

73
# Symbol AA change Variation ID SNP ID
1 LARS2 p.Thr522Asn VAR_070094 rs199589947
2 LARS2 p.Ala430Val VAR_076997 rs879255606

Expression for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Search GEO for disease gene expression data for Hydrops, Lactic Acidosis, and Sideroblastic Anemia.

Pathways for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Pathways related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1 12.22 PTGS2 PTGS1 MPO ALOX5
2
Show member pathways
11.92 PTGS2 PTGS1 ALOX5
3 11.85 SERPING1 KNG1 C1S
4
Show member pathways
11.72 PTGS2 PTGS1 ALOX5
5 11.69 PTGS2 PTGS1 ALOX5
6 11.67 VEGFA PTGS2 ALOX5
7
Show member pathways
11.35 PTGS2 PTGS1 MPO ALOX5 ALB
8 11.26 VEGFA PTGS2 PTGS1
9 10.99 PTGS2 PTGS1
10 10.89 PTGS2 PTGS1
11
Show member pathways
10.86 PTGS2 PTGS1 ALOX5
12 10.77 PTGS2 PTGS1
13 10.71 PTGS2 PTGS1 ALOX5
14 10.31 PTGS2 PTGS1 MPO
15
Show member pathways
10.15 PTGS2 ALOX5

GO Terms for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Cellular components related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 VEGFA SERPING1 MPO KNG1 C1S ALOX5
2 extracellular region GO:0005576 9.76 VEGFA SERPING1 MPO KNG1 C1S AQP4
3 blood microparticle GO:0072562 9.26 SERPING1 KNG1 C1S ALB
4 platelet alpha granule lumen GO:0031093 8.92 VEGFA SERPING1 KNG1 ALB

Biological processes related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.73 PTGS2 PTGS1 KNG1 ALOX5
2 aging GO:0007568 9.69 SERPING1 PTGS2 MPO
3 response to oxidative stress GO:0006979 9.63 PTGS2 PTGS1 MPO
4 prostaglandin metabolic process GO:0006693 9.49 PTGS2 PTGS1
5 long-chain fatty acid biosynthetic process GO:0042759 9.48 PTGS2 ALOX5
6 blood coagulation, intrinsic pathway GO:0007597 9.4 SERPING1 KNG1
7 water transport GO:0006833 9.37 MIP AQP4
8 lipoxygenase pathway GO:0019372 9.32 PTGS2 ALOX5
9 prostaglandin biosynthetic process GO:0001516 9.26 PTGS2 PTGS1
10 platelet degranulation GO:0002576 9.26 VEGFA SERPING1 KNG1 ALB
11 cyclooxygenase pathway GO:0019371 9.16 PTGS2 PTGS1
12 cellular oxidant detoxification GO:0098869 8.92 PTGS2 PTGS1 MPO ALB

Molecular functions related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.58 VEGFA MPO KNG1
2 heme binding GO:0020037 9.54 PTGS2 PTGS1 MPO
3 dioxygenase activity GO:0051213 9.33 PTGS2 PTGS1 ALOX5
4 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.32 PTGS2 ALOX5
5 water channel activity GO:0015250 9.26 MIP AQP4
6 peroxidase activity GO:0004601 9.13 PTGS2 PTGS1 MPO
7 prostaglandin-endoperoxide synthase activity GO:0004666 8.62 PTGS2 PTGS1

Sources for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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