HLASA
MCID: HYD058
MIFTS: 59

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 brain 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 Betamethasone and Glyburide have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and heart, and related phenotypes are eeg abnormality and arrhythmia

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 1997)
# Related Disease Score Top Affiliating Genes
1 brain edema 33.0 VEGFA MIP KNG1 AQP4 ALB
2 acquired angioedema 32.7 SERPING1 C1S
3 hereditary angioedema 32.1 SERPING1 MPO KNG1 C1S
4 c1 inhibitor deficiency 32.1 SERPING1 KNG1 C1S
5 arthus reaction 32.0 ALOX5 ALB
6 severe pre-eclampsia 31.8 VEGFA KNG1 ALB
7 hereditary angioedema with normal c1inh 31.7 MPO KNG1 C1S
8 background diabetic retinopathy 30.7 VEGFA ALB
9 hypertensive encephalopathy 30.6 VEGFA ALB
10 congestive heart failure 30.6 VEGFA KNG1 ALB
11 severe nonproliferative diabetic retinopathy 30.5 VEGFA ALB
12 optic nerve disease 30.5 VEGFA AQP4 ALB
13 exanthem 30.5 VEGFA MPO ALB
14 meningitis 30.4 VEGFA AQP4 ALB
15 angioedema 30.4 SERPING1 PTGS2 PTGS1 KNG1 C1S ALOX5
16 branch retinal artery occlusion 30.4 VEGFA AQP4
17 macular degeneration, age-related, 1 30.3 VEGFA SERPING1 C1S ALB
18 capillary leak syndrome 30.3 SERPING1 C1S ALB
19 intraocular pressure quantitative trait locus 30.1 VEGFA MIP AQP4
20 pulmonary hypertension 30.1 VEGFA PTGS2 ALOX5 ALB
21 mediastinitis 30.1 MPO ALB
22 stroke, ischemic 30.0 VEGFA AQP4 ALOX5 ALB
23 glomerulonephritis 30.0 MPO C1S ALOX5 ALB
24 hypertensive retinopathy 30.0 VEGFA ALB
25 cataract 30.0 VEGFA PTGS2 MIP AQP4 ALB
26 respiratory failure 29.9 PTGS1 MPO ALOX5 ALB
27 inappropriate adh syndrome 29.8 AQP4 ALB
28 cranial nerve palsy 29.8 AQP4 ALB
29 hantavirus hemorrhagic fever with renal syndrome 29.7 VEGFA ALB
30 tuberculous meningitis 29.7 VEGFA ALOX5
31 peripheral vascular disease 29.7 VEGFA KNG1 ALB
32 bone inflammation disease 29.6 VEGFA PTGS2 ALB
33 communicating hydrocephalus 29.6 AQP4 ALB
34 hypertensive nephropathy 29.6 VEGFA ALB
35 peripheral nervous system disease 29.5 VEGFA KNG1 AQP4 ALB
36 bursitis 29.5 PTGS2 KNG1
37 bronchitis 29.5 VEGFA MPO ALB
38 pain agnosia 29.4 PTGS2 KNG1 ALB
39 migraine with or without aura 1 29.4 PTGS2 KNG1 AQP4 ALB
40 decubitus ulcer 29.3 VEGFA ALB
41 gastrointestinal ulceration, recurrent, with dysfunctional platelets 29.3 PTGS2 PTGS1
42 bronchopneumonia 29.2 MPO ALB
43 cystitis 29.2 VEGFA PTGS2 KNG1
44 urticaria 29.2 SERPING1 PTGS2 PTGS1 C1S ALOX5
45 hypersensitivity vasculitis 29.1 MPO ALB
46 impotence 29.1 VEGFA KNG1 ALB
47 atherosclerosis susceptibility 29.1 VEGFA MPO ALOX5 ALB
48 peptic ulcer disease 29.0 PTGS2 PTGS1 ALB
49 rhinitis 28.8 PTGS1 KNG1 ALB
50 gastroesophageal reflux 28.7 PTGS2 PTGS1 MPO

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
abnormal eeg
cerebral dysfunction

Hematology:
thrombocytopenia
sideroblastic anemia
coagulation defects due to liver disease

Cardiovascular Heart:
ventricular septal defect
arrhythmias
cardiac dysfunction

Metabolic Features:
lactic acidosis

Growth Other:
intrauterine growth restriction

Muscle Soft Tissue:
mildly decreased mitochondrial complex i

Respiratory:
respiratory insufficiency

Cardiovascular Vascular:
patent ductus arteriosus
pulmonary hypertension

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
fetal hydrops

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 846)
# 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
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
5
Simvastatin Approved Phase 4 79902-63-9 54454
6
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
7
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
8
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
9
Metformin Approved Phase 4 657-24-9 14219 4091
10
Clobetasol Approved, Experimental, Investigational Phase 4 25122-41-2, 25122-46-7 32798 5311051
11
Linagliptin Approved Phase 4 668270-12-0 10096344
12
Mirabegron Approved Phase 4 223673-61-8 9865528
13
Bromhexine Approved Phase 4 3572-43-8
14
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
15
Nicardipine Approved, Investigational Phase 4 55985-32-5 4474
16
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
17
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
18
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
19
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
20
Lisinopril Approved, Investigational Phase 4 76547-98-3, 83915-83-7 5362119
21
Gliclazide Approved Phase 4 21187-98-4 3475
22
Bevacizumab Approved, Investigational Phase 4 216974-75-3
23
Losartan Approved Phase 4 114798-26-4 3961
24
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
25
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
26
Coal tar Approved Phase 4 8007-45-2
27
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
28
Bromfenac Approved Phase 4 91714-94-2 60726
29
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
30
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
31
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 9865442 444025
32
Ropinirole Approved, Investigational Phase 4 91374-20-8, 91374-21-9 497540 5095
33
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868
34
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
35
Homatropine Approved Phase 4 87-00-3
36
Codeine Approved, Illicit Phase 4 76-57-3 5284371
37
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
38
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
39
Colchicine Approved Phase 4 64-86-8 2833 6167
40
Ethanol Approved Phase 4 64-17-5 702
41
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
42
Tenoxicam Approved Phase 4 59804-37-4 5312154
43
Travoprost Approved Phase 4 157283-68-6 5282226
44
Febuxostat Approved Phase 4 144060-53-7 134018
45
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
46
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
47
Desflurane Approved Phase 4 57041-67-5 42113
48
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
49
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
50
Clarithromycin Approved Phase 4 81103-11-9 84029

Interventional clinical trials:

(show top 50) (show all 3201)
# 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 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
3 Analysis of Cytokines in Response to Treatment of Diabetic Macular Edema With 0.3mg Lucentis Unknown status NCT03097068 Phase 4 Lucentis
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 The Effects of Intravitral Ozurdex Implant in DME: Cytokine Change in Aqueous Humor Unknown status NCT03475407 Phase 4 Ozurdex intravitreal injection
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 Panretinal Photocoagulation for Proliferative Diabetic Retinopathy in a Single Session Using Low Fluence Parameters Unknown status NCT01023698 Phase 4
16 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
17 Manidipine Versus Amlodipine in Patients With Hypertension: Effects on Peripheral Edema Evaluated by Bioimpedance Analysis Unknown status NCT03106597 Phase 4 Manidipine 20mg;Amlodipine 10mg
18 Intravitreal Diclofenac Versus Intravitreal Ranibizumab for the Treatment of Diabetic Macular Edema. Unknown status NCT03458923 Phase 4 Diclofenac Sodium 0.1 ml containing 500µg;Ranibizumab 0.5 mg Solution for Injection
19 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
20 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
21 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
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 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 Home Oxygen Therapy in the Ambulatory Treatment of Bronchiolitis Unknown status NCT01216553 Phase 4
33 Peripheral Perfusion Targeted Fluid Management in Critically Ill Patients: a Pilot Study Unknown status NCT01397474 Phase 4
34 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
35 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
36 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
37 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
38 A MULTICENTRE RANDOMIZED CONTROLLED CLINICAL TRIAL ON THE EFFICACY OF TEGADERM CHG IN REDUCING CATHETER RELATED BLOOD STREAM INFECTIONS Unknown status NCT01142934 Phase 4
39 Effects of Spironolactone on Collagen Metabolism in Pulmonary Arterial Hypertension Unknown status NCT01468571 Phase 4 Spironolactone;Placebo
40 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
41 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Unknown status NCT02095665 Phase 4 Mirabegron;Tamsulosin;Tylenol #3
42 Prospective Evaluation of Perioperative Steroid Dosing on Postsurgical Edema in Orthognathic Surgery Unknown status NCT03190642 Phase 4 Methylprednisolone
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 Remifentanil for c-Section With General Anesthesia in Severe Preeclamptic Patients Unknown status NCT00567957 Phase 4 Remifentanil;Saline
46 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
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 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
49 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)
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
Lung, Brain, Heart, Eye, Endothelial, Breast, Bone

Publications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

(show top 50) (show all 700)
# Title Authors PMID Year
1
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 6 56
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
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. 61
32442335 2020
4
Oxygen resuscitation does not ameliorate neonatal hypoxia/ischemia-induced cerebral edema. 54
20143414 2010
5
Synthesis and evaluation of benzoxazinone derivatives on activity of human neutrophil elastase and on hemorrhagic shock-induced lung injury in rats. 54
20417587 2010
6
A phase III randomized trial of the timing of meloxicam with iodine-125 prostate brachytherapy. 54
20350785 2010
7
Mid-region pro-hormone markers for diagnosis and prognosis in acute dyspnea: results from the BACH (Biomarkers in Acute Heart Failure) trial. 54
20447528 2010
8
Effectiveness of human atrial natriuretic peptide supplementation in pulmonary edema patients using the pulse contour cardiac output system. 54
20376887 2010
9
Expression of aquaporin 1 (AQP1) in human synovitis. 54
20149606 2010
10
Critical elements of clinical follow-up after hospital discharge for heart failure: insights from the EVEREST trial. 54
20197265 2010
11
Roles for novel pharmacological blockers of aquaporins in the treatment of brain oedema and cancer. 54
19566827 2010
12
Aquaporin-4 and traumatic brain edema. 54
20356447 2010
13
MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases. 54
20308477 2010
14
Angioedema: 6 years experience with fourteen cases. 54
19709832 2010
15
Tumor invasion after treatment of glioblastoma with bevacizumab: radiographic and pathologic correlation in humans and mice. 54
20167811 2010
16
Insulin modulates protease-activated receptor 2 signaling: implications for the innate immune response. 54
20118282 2010
17
Recurrent capillary leak syndrome following bortezomib therapy in a patient with relapsed myeloma. 54
20150504 2010
18
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
20159397 2010
19
Intra-cerebral injection of neuromyelitis optica immunoglobulin G and human complement produces neuromyelitis optica lesions in mice. 54
20047900 2010
20
Cardiac efficiency improvement after slow continuous ultrafiltration is assessed by beat-to-beat minimally invasive monitoring in congestive heart failure patients: a preliminary report. 54
19907163 2010
21
Compartment syndrome after Bothrops jararaca snakebite: monitoring, treatment, and outcome. 54
20095815 2010
22
Predictors of patient survival in continuous ambulatory peritoneal dialysis: 10-year experience in 2 major centers in Tehran. 54
20081304 2010
23
Glutamine attenuates hyperoxia-induced acute lung injury in mice. 54
19566832 2010
24
PPARgamma Agonists: Blood Pressure and Edema. 54
20069049 2010
25
Relationships of methacholine and adenosine monophosphate responsiveness with serum vascular endothelial growth factor in children with asthma. 54
20143643 2010
26
Elevated levels of vascular endothelial growth factor (VEGF) and soluble vascular endothelial growth factor receptor (VEGFR)-2 in human malaria. 54
20065009 2010
27
Substance P antagonists as a therapeutic approach to improving outcome following traumatic brain injury. 54
20129499 2010
28
The transcriptional programme of human heart valves reveals the natural history of infective endocarditis. 54
20126625 2010
29
Neuroprotective profile of novel SRC kinase inhibitors in rodent models of cerebral ischemia. 54
19741150 2009
30
Mechanisms of therapeutic effects of rhubarb on gut origin sepsis. 54
19930907 2009
31
Neutrophil-derived heparin binding protein--a mediator of increased vascular permeability after burns? 54
19477593 2009
32
Aquaporin-4 contributes to the resolution of peritumoural brain oedema in human glioblastoma multiforme after combined chemotherapy and radiotherapy. 54
19836227 2009
33
Congenital nephrotic syndrome. 54
17968594 2009
34
Abdominal compartment syndrome associated with capillary leak syndrome after liver transplantation. 54
19917414 2009
35
Clinical review of hereditary angioedema: diagnosis and management. 54
19940422 2009
36
Nephrotic syndrome in diabetic kidney disease: an evaluation and update of the definition. 54
19556043 2009
37
Cyclooxygenase-2 expression in astrocytes and microglia in human oligodendroglioma and astrocytoma. 54
20052522 2009
38
Cellular characterization of the peritumoral edema zone in malignant brain tumors. 54
19681905 2009
39
DSM-RX78, a new phosphodiesterase inhibitor, suppresses superoxide anion production in activated human neutrophils and attenuates hemorrhagic shock-induced lung injury in rats. 54
19540209 2009
40
Increased levels of angiopoietin-2 in induced sputum from smoking asthmatic patients. 54
19438587 2009
41
Intravitreal VEGF levels in uveitis patients and treatment of uveitic macular oedema with intravitreal bevacizumab. 54
19169227 2009
42
A microprocessor-controlled tracheal insufflation-assisted total liquid ventilation system. 54
19629555 2009
43
Loss of astrocyte polarity marks blood-brain barrier impairment during experimental autoimmune encephalomyelitis. 54
19533155 2009
44
Anti-chemokine autoantibody:chemokine immune complexes activate endothelial cells via IgG receptors. 54
19109244 2009
45
Discovery of (2R)-2-(3-{3-[(4-Methoxyphenyl)carbonyl]-2-methyl-6-(trifluoromethoxy)-1H-indol-1-yl}phenoxy)butanoic acid (MK-0533): a novel selective peroxisome proliferator-activated receptor gamma modulator for the treatment of type 2 diabetes mellitus with a reduced potential to increase plasma and extracellular fluid volume. 54
19507861 2009
46
Changes of aqueous vascular endothelial growth factor and pigment epithelium-derived factor following intravitreal bevacizumab for macular oedema secondary to branch retinal vein occlusion. 54
19624346 2009
47
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. 54
19394045 2009
48
Bacillus anthracis edema toxin impairs neutrophil actin-based motility. 54
19349425 2009
49
Vascular endothelial growth factor receptor and coreceptor expression in human acute respiratory distress syndrome. 54
19327291 2009
50
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
19188556 2009

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 16)
# 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 11.03 PTGS2 PTGS1
10 10.99 PTGS2 PTGS1
11 10.89 PTGS2 PTGS1
12
Show member pathways
10.86 PTGS2 PTGS1 ALOX5
13 10.77 PTGS2 PTGS1
14 10.71 PTGS2 PTGS1 ALOX5
15 10.31 PTGS2 PTGS1 MPO
16
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 9.58 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 prostaglandin biosynthetic process GO:0001516 9.46 PTGS2 PTGS1
7 blood coagulation, intrinsic pathway GO:0007597 9.37 SERPING1 KNG1
8 water transport GO:0006833 9.32 MIP AQP4
9 lipoxygenase pathway GO:0019372 9.26 PTGS2 ALOX5
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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