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 57 74 29 6
Hlasa 57 74
Edema 44 17
Hydrops-Lactic Acidosis-Sideroblastic Anemia-Multisystemic Failure Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hydrops, lactic acidosis, and sideroblastic anemia:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 617021
Orphanet 59 ORPHA528091

Summaries for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

UniProtKB/Swiss-Prot : 74 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 idiopathic edema and acquired angioedema. 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 Glyburide and Manidipine have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and heart, and related phenotypes are hypertension and seizures

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 1977)
# Related Disease Score Top Affiliating Genes
1 idiopathic edema 33.9 MPO AQP1
2 acquired angioedema 33.0 SERPING1 C1S
3 hereditary angioedema 32.9 SERPING1 KNG1 C1S
4 c1 inhibitor deficiency 32.3 SERPING1 KNG1 C1S
5 brain edema 31.9 VEGFA MIP KNG1 AQP4 AQP1 ALB
6 neuroretinitis 31.2 VEGFA AQP4
7 angioedema 31.1 SERPING1 PTGS2 PTGS1 KNG1 C1S
8 background diabetic retinopathy 31.0 VEGFA ALB
9 capillary leak syndrome 30.8 C1S ALB
10 severe nonproliferative diabetic retinopathy 30.8 VEGFA ALB
11 glomerulonephritis 30.6 MPO C1S ALB
12 ischemia 30.6 VEGFA MPO KNG1
13 central pontine myelinolysis 30.3 AQP4 AQP1
14 nervous system disease 30.2 VEGFA AQP4 ALB
15 peritonitis 30.1 MPO AQP1 ALB
16 arteries, anomalies of 30.0 VEGFA KNG1 ALB
17 vascular disease 30.0 VEGFA MPO KNG1 ALB
18 urticaria 29.9 SERPING1 PTGS2 PTGS1 C1S
19 leukostasis 29.9 VEGFA MPO
20 hypertensive nephropathy 29.8 VEGFA ALB
21 tuberculous meningitis 29.5 VEGFA ALOX5
22 rheumatic disease 29.5 PTGS2 PTGS1 C1S
23 gastrointestinal system disease 29.4 VEGFA PTGS2 ALB
24 autosomal dominant polycystic kidney disease 29.4 VEGFA AQP1 ALB
25 intestinal disease 29.1 VEGFA PTGS2 MPO ALB
26 allergic rhinitis 29.0 MPO KNG1 ALOX5
27 renal hypertension 28.8 KNG1 ALB
28 hydrarthrosis 28.7 MIP AQP1
29 meniere disease 28.6 MIP AQP4 AQP1
30 proteasome-associated autoinflammatory syndrome 1 28.6 PTGS2 PTGS1 MPO ALOX5 ALB
31 myocardial infarction 28.3 VEGFA PTGS2 PTGS1 MPO KNG1 ALB
32 pulmonary edema 12.7
33 macular retinal edema 12.7
34 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 12.5
35 pulmonary edema of mountaineers 12.5
36 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 12.5
37 remitting seronegative symmetrical synovitis with pitting edema 12.4
38 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 12.4
39 diabetic macular edema 12.4
40 corneal edema 12.4
41 idiopathic corneal edema 12.3
42 contact lens corneal edema 12.3
43 fetal edema 12.2
44 enteropathy, familial, with villous edema and immunoglobulin g2 deficiency 12.2
45 secondary corneal edema 12.2
46 angioedema, hereditary, type i 12.1
47 acute mountain sickness 12.1
48 peho syndrome 12.1
49 edema, familial idiopathic, prepubertal 12.1
50 adult respiratory distress syndrome 11.9

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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 seizures 32 HP:0001250
3 respiratory insufficiency 32 HP:0002093
4 eeg abnormality 32 HP:0002353
5 arrhythmia 32 HP:0011675
6 decreased liver function 32 HP:0001410
7 patent ductus arteriosus 32 HP:0001643
8 intrauterine growth retardation 32 HP:0001511
9 thrombocytopenia 32 HP:0001873
10 lactic acidosis 32 HP:0003128
11 ventricular septal defect 32 HP:0001629
12 oligohydramnios 32 HP:0001562
13 sideroblastic anemia 32 HP:0001924

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
abnormal eeg
cerebral dysfunction

Cardiovascular Vascular:
patent ductus arteriosus
pulmonary hypertension

Metabolic Features:
lactic acidosis

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
fetal hydrops

Growth Other:
intrauterine growth restriction

Muscle Soft Tissue:
mildly decreased mitochondrial complex i

Respiratory:
respiratory insufficiency

Hematology:
thrombocytopenia
sideroblastic anemia
coagulation defects due to liver disease

Cardiovascular Heart:
ventricular septal defect
arrhythmias
cardiac dysfunction

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 ALOX5 AQP1 AQP4 MPO PTGS1 PTGS2
2 renal/urinary system MP:0005367 9.1 ALB AQP1 AQP4 PTGS1 PTGS2 VEGFA

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 864)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glyburide Approved Phase 4 10238-21-8 3488
2
Manidipine Approved, Investigational Phase 4 89226-50-6
3
Simvastatin Approved Phase 4 79902-63-9 54454
4
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
5
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
6
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
7
Metformin Approved Phase 4 657-24-9 4091 14219
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
Desogestrel Approved Phase 4 54024-22-5 40973
12
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
13
Mirabegron Approved Phase 4 223673-61-8 9865528
14
Nicardipine Approved, Investigational Phase 4 55985-32-5 4474
15
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
16
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
17
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
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 acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
22
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
23
Losartan Approved Phase 4 114798-26-4 3961
24
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
25
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
26
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
27
Morphine Approved, Investigational Phase 4 57-27-2 5288826
28
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
29
Ropinirole Approved, Investigational Phase 4 91374-21-9, 91374-20-8 5095 497540
30
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
31
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
32
Homatropine Approved Phase 4 87-00-3
33
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
34
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
35
Codeine Approved, Illicit Phase 4 76-57-3 5284371
36
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
37
Colchicine Approved Phase 4 64-86-8 6167 2833
38
Ethanol Approved Phase 4 64-17-5 702
39
Travoprost Approved Phase 4 157283-68-6 5282226
40
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
41
Febuxostat Approved Phase 4 144060-53-7 134018
42
Budesonide Approved Phase 4 51333-22-3 63006 5281004
43
Desflurane Approved Phase 4 57041-67-5 42113
44
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
45
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
46
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
47
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
48
Clarithromycin Approved Phase 4 81103-11-9 84029
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 2896)
# 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 Study Design and Rationale of "A Multicenter, Open-Labeled, Randomized Controlled Trial Comparing MIdazolam Versus MOrphine in Acute Pulmonary Edema": MIMO Trial Unknown status NCT02856698 Phase 4 Midazolam;Morphine
7 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
8 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
9 Phase 4 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
10 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
11 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
12 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
13 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
14 Effect of Aflibercept (Eylea®) in the Management of Bevacizumab (Avastin®) Resistant Diabetic Macular Edema Unknown status NCT02924987 Phase 4 Aflibercept Injection
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 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
18 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
19 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
20 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
21 Longterm Efficiency and Safety of Intravitreal Injections With Bevacizumab in Patients With Neovascularisation or Macular Edema Unknown status NCT03211741 Phase 4 Bevacizumab Injection [Avastin]
22 The Effects of Thiazolidinedione on the Diabetic Retinopathy and Nephropathy Unknown status NCT01175486 Phase 4 Actos (Pioglitazone);Acarbose
23 Epinephrine Sprayed on the Papilla for the Prevention of Post-ERCP Pancreatitis Unknown status NCT02839356 Phase 4 epinephrine;normal saline
24 Aflibercept Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT02033018 Phase 4 Aflibercept Injection
25 Ranibizumabe Intravitreal Injection for Myopic Choroidal Neovascularization Unknown status NCT01246089 Phase 4 ranibizumab injection
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 Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors Unknown status NCT00777504 Phase 4 usage oral angiogenesis inhibitor;stop oral angiogenesis inhibitor
28 Role of Phosphodiesterase 5 Inhibitors (PDE5i) (Sildenafil) in Management of Distal Ureteral Stone Unknown status NCT02519153 Phase 4 Sildenafil
29 A One-year Randomized Controlled Trial Evaluating the Impact of Pioglitazone Versus Linagliptin on Bone Turnover Markers Unknown status NCT02429232 Phase 4 Pioglitazone;Linagliptin
30 The ABC Trial - Does All-Blood Cardioplegia Prevent Blood Transfusion in Cardiac Surgery Unknown status NCT01623193 Phase 4
31 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
32 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
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 Peripheral Perfusion Targeted Fluid Management in Critically Ill Patients: a Pilot Study Unknown status NCT01397474 Phase 4
35 Home Oxygen Therapy in the Ambulatory Treatment of Bronchiolitis Unknown status NCT01216553 Phase 4
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 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Unknown status NCT02095665 Phase 4 Mirabegron;Tamsulosin;Tylenol #3
39 A MULTICENTRE RANDOMIZED CONTROLLED CLINICAL TRIAL ON THE EFFICACY OF TEGADERM CHG IN REDUCING CATHETER RELATED BLOOD STREAM INFECTIONS Unknown status NCT01142934 Phase 4
40 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
41 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
42 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
43 Behavior and Exercise Versus Drug Treatment in Men With Nocturia Unknown status NCT00824200 Phase 4 tamsulosin (alpha-adrenergic antagonist medication);placebo
44 Effectiveness of Low Level Laser at the Auriculotherapy Points, in Reducing Postoperative Pain in Third Molar Surgery Unknown status NCT02657174 Phase 4
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 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
47 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
48 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
49 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
50 Remifentanil for c-Section With General Anesthesia in Severe Preeclamptic Patients Unknown status NCT00567957 Phase 4 Remifentanil;Saline

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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Acetazolamide
Bumetanide
Chlorothiazide
Etacrynic acid
Furosemide
Hydrochlorothiazide
Methyclothiazide
Metolazone
Spironolactone
Torasemide
Triamterene

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:

41
Brain, Lung, Heart, Eye, Endothelial, Bone, Bone Marrow

Publications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

(show top 50) (show all 30534)
# Title Authors PMID Year
1
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 8 71
26537577 2016
2
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 71
23541342 2013
3
Oxygen resuscitation does not ameliorate neonatal hypoxia/ischemia-induced cerebral edema. 9 38
20143414 2010
4
A phase III randomized trial of the timing of meloxicam with iodine-125 prostate brachytherapy. 9 38
20350785 2010
5
Effectiveness of human atrial natriuretic peptide supplementation in pulmonary edema patients using the pulse contour cardiac output system. 9 38
20376887 2010
6
Aquaporin-4 and traumatic brain edema. 9 38
20356447 2010
7
Angioedema: 6 years experience with fourteen cases. 9 38
19709832 2010
8
Expression of aquaporin 1 (AQP1) in human synovitis. 9 38
20149606 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. 9 38
20159397 2010
10
PPARgamma Agonists: Blood Pressure and Edema. 9 38
20069049 2010
11
Cellular characterization of the peritumoral edema zone in malignant brain tumors. 9 38
19681905 2009
12
A microprocessor-controlled tracheal insufflation-assisted total liquid ventilation system. 9 38
19629555 2009
13
Loss of astrocyte polarity marks blood-brain barrier impairment during experimental autoimmune encephalomyelitis. 9 38
19533155 2009
14
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. 9 38
19394045 2009
15
Bacillus anthracis edema toxin impairs neutrophil actin-based motility. 9 38
19349425 2009
16
Clara cell protein (CC16), a marker of lung epithelial injury, is decreased in plasma and pulmonary edema fluid from patients with acute lung injury. 9 38
19188556 2009
17
Bacillus anthracis edema toxin suppresses human macrophage phagocytosis and cytoskeletal remodeling via the protein kinase A and exchange protein activated by cyclic AMP pathways. 9 38
19307216 2009
18
Anthrax edema toxin induces maturation of dendritic cells and enhances chemotaxis towards macrophage inflammatory protein 3beta. 9 38
19273556 2009
19
Induction of mast cell accumulation, histamine release and skin edema by N49 phospholipase A2. 9 38
19400930 2009
20
Aquaporin-4 expression is increased in edematous meningiomas. 9 38
19153045 2009
21
Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. 9 38
18996102 2009
22
Role of aquaporin-4 in cerebral edema and stroke. 9 38
19096776 2009
23
Brain natriuretic peptide levels in six basic underwater demolitions/SEAL recruits presenting with swimming induced pulmonary edema (SIPE). 9 38
19739476 2009
24
[The relationship between the aquaporin-4 and brain edema, pathologic change, ultrastructure in peri-hematoma tissue in patients with intracerebral hemorrhage]. 9 38
19000426 2008
25
Genetic and gene expression studies implicate renin and endothelin-1 in edema caused by peroxisome proliferator-activated receptor gamma agonists. 9 38
18794727 2008
26
LFA-1 and MAC-1 mediate pulmonary recruitment of neutrophils and tissue damage in abdominal sepsis. 9 38
18197144 2008
27
Endothelins modulate inflammatory reaction in zymosan-induced arthritis: participation of LTB4, TNF-alpha, and CXCL-1. 9 38
18515326 2008
28
An insilico approach to high altitude pulmonary edema - Molecular modeling of human beta2 adrenergic receptor and its interaction with Salmeterol & Nifedipine. 9 38
18512086 2008
29
Involvement of cystic fibrosis transmembrane conductance regulator in infection-induced edema. 9 38
18462959 2008
30
Time course of imaging changes of GBM during extended bevacizumab treatment. 9 38
18389177 2008
31
Cardiac function and brain-type natriuretic peptide in first-time flash pulmonary edema. 9 38
18315994 2008
32
Diagnostic utility of B-type natriuretic peptide in critically ill patients with pulmonary edema: a prospective cohort study. 9 38
18194554 2008
33
Platelet activating factor receptors drive CXC chemokine production, neutrophil influx and edema formation in the lungs of mice injected with Tityus serrulatus venom. 9 38
17532358 2007
34
Optic disc edema, cystoid macular edema, and elevated vascular endothelial growth factor in a patient with POEMS syndrome. 9 38
17895817 2007
35
Temporal and regional evolution of aquaporin-4 expression and magnetic resonance imaging in a rat pup model of neonatal stroke. 9 38
17622964 2007
36
Differential roles of p55 and p75 tumor necrosis factor receptors on stretch-induced pulmonary edema in mice. 9 38
17435079 2007
37
Possible increased risk of pulmonary edema in patients with hepatorenal syndrome on adding octreotide to albumin / noradrenaline therapies. 9 38
17496406 2007
38
Serum B-type natriuretic peptide: a marker of fluid resuscitation after injury? 9 38
17563646 2007
39
Treatment of acute edema attacks in hereditary angioedema with a bradykinin receptor-2 antagonist (Icatibant). 9 38
17418383 2007
40
Relationship between survival and edema in malignant gliomas: role of vascular endothelial growth factor and neuronal pentraxin 2. 9 38
17473188 2007
41
A review of progress in understanding the pathophysiology and treatment of brain edema. 9 38
17613227 2007
42
Expression pattern of the water channel aquaporin-4 in human gliomas is associated with blood-brain barrier disturbance but not with patient survival. 9 38
17335082 2007
43
Peritumoral edema after stereotactic radiosurgery for intracranial meningiomas and molecular factors that predict its development. 9 38
17245625 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. 9 38
17426196 2007
45
[Evidence-based therapy of nephrotic edema]. 9 38
17448310 2007
46
Contributions of histamine, prostanoids, and neurokinins to edema elicited by edema toxin from Bacillus anthracis. 9 38
17261611 2007
47
Aquaporins: role in cerebral edema and brain water balance. 9 38
17618977 2007
48
["Free" iron, transferrin and ferritin levels in serum and their relation with severe malnutrition]. 9 38
17266850 2007
49
Recombinant human VEGF treatment transiently increases lung edema but enhances lung structure after neonatal hyperoxia. 9 38
16829629 2006
50
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. 9 38
16822823 2006

Variations for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LARS2 NM_015340.4(LARS2): c.1289C> T (p.Ala430Val) single nucleotide variant Pathogenic rs879255606 3:45533058-45533058 3:45491566-45491566
2 LARS2 NM_015340.4(LARS2): c.1565C> A (p.Thr522Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199589947 3:45537808-45537808 3:45496316-45496316
3 LARS2 NM_015340.4(LARS2): c.457A> C (p.Asn153His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205560 3:45461162-45461162 3:45419670-45419670
4 LARS2 NM_015340.4(LARS2): c.1814G> A (p.Arg605His) single nucleotide variant Uncertain significance rs142665087 3:45554680-45554680 3:45513188-45513188

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

74
# 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 16)
# Super pathways Score Top Affiliating Genes
1 12.18 PTGS2 PTGS1 MPO ALOX5
2
Show member pathways
11.92 PTGS2 PTGS1 ALOX5
3 11.83 SERPING1 KNG1 C1S
4 11.73 PTGS2 AQP4 AQP1
5
Show member pathways
11.7 PTGS2 PTGS1 ALOX5
6 11.67 PTGS2 PTGS1 ALOX5
7 11.64 VEGFA PTGS2 ALOX5
8
Show member pathways
11.36 PTGS2 PTGS1 MPO ALOX5 ALB
9 11.26 VEGFA PTGS2 PTGS1
10 11.03 PTGS2 PTGS1
11 10.99 PTGS2 PTGS1
12 10.89 PTGS2 PTGS1
13
Show member pathways
10.86 PTGS2 PTGS1 ALOX5
14 10.77 PTGS2 PTGS1
15 10.71 PTGS2 PTGS1 ALOX5
16 10.31 PTGS2 PTGS1 MPO

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 region GO:0005576 9.8 VEGFA SERPING1 MPO KNG1 C1S ALOX5
2 extracellular space GO:0005615 9.7 VEGFA SERPING1 MPO KNG1 C1S ALOX5
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 17)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.78 PTGS2 PTGS1 KNG1 ALOX5
2 aging GO:0007568 9.73 SERPING1 PTGS2 MPO
3 negative regulation of apoptotic process GO:0043066 9.72 VEGFA PTGS2 MPO AQP1 ALB
4 response to oxidative stress GO:0006979 9.7 PTGS2 PTGS1 MPO
5 cellular response to hypoxia GO:0071456 9.67 VEGFA PTGS2 AQP1
6 renal water homeostasis GO:0003091 9.57 AQP4 AQP1
7 prostaglandin metabolic process GO:0006693 9.55 PTGS2 PTGS1
8 long-chain fatty acid biosynthetic process GO:0042759 9.54 PTGS2 ALOX5
9 blood coagulation, intrinsic pathway GO:0007597 9.51 SERPING1 KNG1
10 prostaglandin biosynthetic process GO:0001516 9.46 PTGS2 PTGS1
11 platelet degranulation GO:0002576 9.46 VEGFA SERPING1 KNG1 ALB
12 lipoxygenase pathway GO:0019372 9.43 PTGS2 ALOX5
13 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 9.43 VEGFA PTGS2 AQP1
14 cyclooxygenase pathway GO:0019371 9.4 PTGS2 PTGS1
15 multicellular organismal water homeostasis GO:0050891 9.37 AQP4 AQP1
16 water transport GO:0006833 9.13 MIP AQP4 AQP1
17 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 9.63 VEGFA MPO KNG1
2 heme binding GO:0020037 9.61 PTGS2 PTGS1 MPO
3 dioxygenase activity GO:0051213 9.54 PTGS2 PTGS1 ALOX5
4 peroxidase activity GO:0004601 9.43 PTGS2 PTGS1 MPO
5 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.4 PTGS2 ALOX5
6 prostaglandin-endoperoxide synthase activity GO:0004666 9.16 PTGS2 PTGS1
7 channel activity GO:0015267 9.13 MIP AQP4 AQP1
8 water transmembrane transporter activity GO:0005372 9.02 AQP1
9 water channel activity GO:0015250 8.8 MIP AQP4 AQP1

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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