HLASA
MCID: HYD058
MIFTS: 60

Hydrops, Lactic Acidosis, and Sideroblastic Anemia (HLASA)

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Respiratory 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 73 29 6
Hlasa 57 73
Edema 44 17
Hydrops-Lactic Acidosis-Sideroblastic Anemia-Multisystemic Failure Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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

OMIM® : 57 Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is an autosomal recessive multisystem disorder characterized by the onset of hydrops in utero. The severity of the hydrops and the disorder in general is highly variable. At birth, affected infants usually show poor growth, lactic acidosis, pulmonary hypertension with hypoxic respiratory insufficiency, and sideroblastic anemia. More variable features may include hepatosplenomegaly or cholestasis, hypoglycemia, pancreatic insufficiency, and micropenis or hypospadias. Death in infancy may occur. Those who survive tend to have resolution of lactic acidosis and anemia, but may show developmental delay and sensorineural deafness (summary by Riley et al., 2020). (617021) (Updated 05-Mar-2021)

MalaCards based summary : Hydrops, Lactic Acidosis, and Sideroblastic Anemia, also known as hlasa, is related to idiopathic edema and hereditary 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 Spinal Cord Injury. The drugs Dorzolamide and Diclofenac have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and brain, and related phenotypes are eeg abnormality and hypertension

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.

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 2037)
# Related Disease Score Top Affiliating Genes
1 idiopathic edema 32.1 NPPA MPO AQP1
2 hereditary angioedema 32.0 SERPING1 MPO KNG1 C1S
3 acquired angioedema 32.0 SERPING1 C1S
4 c1 inhibitor deficiency 31.9 SERPING1 KNG1 C1S
5 papilledema 31.8 VEGFA AQP4 ALB
6 hereditary angioedema with normal c1inh 31.7 MPO KNG1 C1S
7 angioedema 31.7 SERPING1 PTGS2 PTGS1 KNG1 C1S
8 severe pre-eclampsia 31.5 VEGFA KNG1 ALB
9 brain edema 31.4 VEGFA MIP KNG1 CLDN5 AQP4 AQP1
10 hepatorenal syndrome 31.0 NPPA AQP1 ALB
11 meningitis 30.8 VEGFA AQP4 ALB
12 hypertensive encephalopathy 30.6 VEGFA ALB
13 congestive heart failure 30.6 VEGFA NPPA KNG1 ALB
14 severe nonproliferative diabetic retinopathy 30.6 VEGFA ALB
15 capillary leak syndrome 30.6 SERPING1 C1S ALB
16 urticaria 30.5 SERPING1 PTGS2 PTGS1 C1S ALOX5
17 cataract 30.5 VEGFA PTGS2 MIP AQP4 AQP1 ALB
18 branch retinal artery occlusion 30.4 VEGFA AQP4
19 acute kidney failure 30.4 NPPA KNG1 ALB
20 perrault syndrome 4 30.4 LARS2-AS1 LARS2
21 algoneurodystrophy 30.4 PTGS1 KNG1
22 stroke, ischemic 30.4 NPPA AQP4 ALOX5 ALB
23 pulmonary hypertension 30.3 VEGFA PTGS2 NPPA ALOX5 ALB
24 pericardial effusion 30.3 VEGFA NPPA ALB
25 respiratory failure 30.3 VEGFA PTGS1 NPPA MPO ALOX5 ALB
26 mediastinitis 30.3 MPO ALB
27 bullous keratopathy 30.3 MIP AQP4 AQP1
28 gastrointestinal ulceration, recurrent, with dysfunctional platelets 30.2 PTGS2 PTGS1
29 peritonitis 30.2 MPO AQP1 ALB
30 intraocular pressure quantitative trait locus 30.1 VEGFA MIP AQP4 AQP1
31 central pontine myelinolysis 30.1 AQP4 AQP1 ALB
32 bone inflammation disease 30.1 VEGFA PTGS2 ALB
33 peripheral vascular disease 30.0 VEGFA KNG1 ALB
34 pain agnosia 30.0 PTGS2 KNG1 ALB
35 hypertensive retinopathy 30.0 VEGFA ALB
36 bursitis 30.0 PTGS2 KNG1
37 optic nerve disease 30.0 VEGFA AQP4 AQP1 ANTXR1 ALB
38 protein-losing enteropathy 29.9 VEGFA ANTXR2 ALB
39 communicating hydrocephalus 29.8 AQP4 AQP1 ALB
40 peripheral nervous system disease 29.8 VEGFA PTGS2 KNG1 AQP4 ALB
41 cystitis 29.8 VEGFA PTGS2 KNG1
42 proteasome-associated autoinflammatory syndrome 1 29.7 PTGS2 PTGS1 MPO ALOX5 ALB
43 constipation 29.7 PTGS2 PTGS1 AQP4 ALB
44 cranial nerve palsy 29.7 AQP4 ALB
45 vascular disease 29.6 VEGFA PTGS2 PTGS1 MPO KNG1 ALOX5
46 renal artery disease 29.6 NPPA ALB
47 tuberculous meningitis 29.6 VEGFA NPPA ALOX5
48 urinary tract obstruction 29.5 PTGS2 AQP1 ALB
49 lipoprotein quantitative trait locus 29.4 VEGFA NPPA MPO KNG1 ALB
50 hydrarthrosis 29.4 MIP AQP1

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 hypertension 31 HP:0000822
3 respiratory insufficiency 31 HP:0002093
4 intrauterine growth retardation 31 HP:0001511
5 thrombocytopenia 31 HP:0001873
6 arrhythmia 31 HP:0011675
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 9.77 ALB ALOX5 ANTXR1 ANTXR2 AQP1 AQP4
2 renal/urinary system MP:0005367 9.17 ALB AQP1 AQP4 NPPA 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 439)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
2
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
3
Ketoprofen Approved, Vet_approved Phase 4 22071-15-4 3825
4
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
5
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
6
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
7
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
8
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
9
Iodine Approved, Investigational Phase 4 7553-56-2 807
10
Povidone Approved Phase 4 9003-39-8 131751496
11
Timolol Approved Phase 4 26839-75-8 33624 5478
12
Bromfenac Approved Phase 4 91714-94-2 60726
13
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
14
Homatropine Approved Phase 4 87-00-3
15
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
16
Sodium citrate Approved, Investigational Phase 4 68-04-2
17
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
18
Thrombin Approved, Investigational Phase 4
19
Tranexamic Acid Approved Phase 4 1197-18-8 5526
20
rituximab Approved Phase 4 174722-31-7 10201696
21
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
22
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
23
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
24
Travoprost Approved Phase 4 157283-68-6 5282226
25
Milrinone Approved Phase 4 78415-72-2 4197
26
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
27
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
28
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
29
Norepinephrine Approved Phase 4 51-41-2 439260
30
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8
31
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
32
Phenylephrine Approved Phase 4 59-42-7 6041
33
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
34
Racepinephrine Approved Phase 4 329-65-7 838
35
Deflazacort Approved, Investigational Phase 4 14484-47-0
36
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
37
Dipivefrin Approved Phase 4 52365-63-6 3105
38
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
39
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
40
Denosumab Approved Phase 4 615258-40-7
41
Amlodipine Approved Phase 4 88150-42-9 2162
42
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
43 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
44
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
45
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
46
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
47
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
48
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
49
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
50
Tolvaptan Approved Phase 4 150683-30-0 216237

Interventional clinical trials:

(show top 50) (show all 1295)
# Name Status NCT ID Phase Drugs
1 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
2 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
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 Single Arm, Single Dose Clinical Study to Investigate Efficacy of Treat-and-Extend Regimen of Intravitreal Aflibercept Injection in Diabetic Macular Edema Unknown status NCT02788877 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 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
7 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
8 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
9 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)
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 A Prospective, Single-Center, Randomized, Double Blind, Double Arm, Comparative Clinical Trial to Compare the Safety and Preliminary Efficacy Between Ranibizumab Monotherapy and Ranibizumab Combined With R:GEN (Selective Retina Therapy) in Clinically Significant Diabetic Macular Edema (a Pilot Study) Unknown status NCT03759860 Phase 4
12 Prospective Trial of Treat and Extend Aflibercept for Macular Edema Secondary to Branch Retinal Vein Occlusion: the PLATON Trial Unknown status NCT03405376 Phase 4 Intravitreal aflibercept injection
13 Effect of Aflibercept (Eylea®) in the Management of Bevacizumab (Avastin®) Resistant Diabetic Macular Edema Unknown status NCT02924987 Phase 4 Aflibercept Injection
14 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
15 Behavior and Exercise Versus Drug Treatment in Men With Nocturia Unknown status NCT00824200 Phase 4 tamsulosin (alpha-adrenergic antagonist medication);placebo
16 Ozurdex Versus Ranibizumab Versus Combination for Central Retinal Vein Unknown status NCT01827722 Phase 4 Ozurdex;Ranibizumab;Combination Ozurdex with Ranibizumab PRN
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 The Effects of Intravitral Ozurdex Implant in DME: Cytokine Change in Aqueous Humor Unknown status NCT03475407 Phase 4 Ozurdex intravitreal injection
19 A Phase 4 Safety Study of IOP Signals in Patients Treated With ILUVIEN® (Fluocinolone Acetonide Intravitreal Implant) 0.19 mg Unknown status NCT02424019 Phase 4 ILUVIEN 0.19 MG
20 Phase 4 Comparison of the Effects of Bevacizumab Before vs After Pattern Panretinal Photocoagulation Unknown status NCT00804206 Phase 4 bevacizumab;bevacizumab
21 Prospective Evaluation of Perioperative Steroid Dosing on Postsurgical Edema in Orthognathic Surgery Unknown status NCT03190642 Phase 4 Methylprednisolone
22 Pattern Scan Laser System vs Regular Photocoagulation System: Changes in Macular Edema Post Treatment. Unknown status NCT00563628 Phase 4
23 Effect of Gradual Reperfusion on Myocardial Edema and Coronary Microvascular Integrity in Patients Undergoing Primary Percutaneous Coronary Intervention Unknown status NCT02732080 Phase 4
24 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
25 Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration Unknown status NCT00716586 Phase 4 dorzolamide
26 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
27 Placebo-controlled, Case-controlled, Open Label Therapeutic Trial for Unilateral or Bilateral Lymphedema of Arm or Leg. Completed NCT02257970 Phase 4 Ketoprofen;Placebo
28 Topical Hydrocortisone for Pain and Edema Control After Third Molar Surgery: a Clinical, Crossover, Randomized, Double-blind, Controlled Study Completed NCT03179813 Phase 4
29 Prospective, Randomized Controlled Trial Comparing the Effect of a Non-elastic Compression Device Juxta Reduction Kit (Medi ®)" Versus Elastic Class 1 Stockings (BSN Medical® in Patients Undergoing Total Knee Arthroplasty Completed NCT02375945 Phase 4
30 Influence of Different Topical Arnica and Mucopolysaccharide Polysulfate on Postoperative Pain, Edema and Trismus After Extraction of Impacted Third Molar Completed NCT04534426 Phase 4 : Arnica montana;Mucopolysaccharide polysulfate
31 Randomized Trial Comparing Injection Frequency Between Aflibercept and Ranibizumab in Patients With Central Retinal Vein Occlusion With a Treat and Extend Algorithm Completed NCT02274259 Phase 4 Aflibercept;Ranibizumab
32 A 12-month, Phase IV, Open-label, Randomized, Active Controlled, 2-arm, Multicenter Study Assessing the Efficacy and Safety of Intravitreal Ranibizumab Combined With Grid&Direct Short Pulse Laser Photocoagulation Versus a PRN Ranibizumab Monotherapy in Japanese Patients With Macular Edema Secondary to Branch Retinal Vein Occlusion (BRVO) Completed NCT02953938 Phase 4
33 Peripheral and Macular Retinal Vascular Perfusion and Leakage Dynamics in Diabetic Macular Edema and Retinal Venous Occlusions During Intravitreal Aflibercept Injection (IAI) Treatment for Retinal Edema: PERMEATE Study Completed NCT02503540 Phase 4 Aflibercept
34 Randomized Clinical Trial Comparing Prophylactic Nepafenac 0.1% and Ketorolac 0.5% Versus Placebo in Preventing Postoperative Macular Edema After Uncomplicated Phacoemulsification Cataract Extraction (PNK) Completed NCT01395069 Phase 4 Nepafenac 0.1%;Ketorolac 0.5%
35 An Open-label, Multicenter, Phase IV Study of the Efficacy and Safety of Ranibizumab 0.5mg in Diabetic Patients Presenting a Visual Impairment Due to Macular Edema in Current Medical Practice Completed NCT01315275 Phase 4 Ranibizumab
36 A 10 Month, Single Masked, Randomized Controlled Study to Assess Anti-VEGF Alone Versus Ozurdex Given Every 3 Months for Treatment of Persistent Diabetic Macular Edema Completed NCT02036424 Phase 4 Ozurdex;Bevacizumab
37 A Randomized Clinical Trial of Intravitreal dexamethasOne Versus Bevacizumab in Aboriginal and Torres Strait Islander patientS With Diabetic Macular Oedema (The OASIS Study) Completed NCT04619303 Phase 4 Dexamethasone intravitreal implant;Bevacizumab Injectable Product
38 Treatment of Acute Pseudophakic Cystoid Macular Edema: Bromfenac 0.09% Versus Diclofenac Sodium 0.1% Versus Ketorolac Tromethamine 0.5% Completed NCT00595543 Phase 4 Bromfenac;Ketorolac;Diclofenac
39 Central Macular Thickness, Macular Electroretinogram, and Visual Acuity in Patients With Diabetic Macular Edema After Intravitreal Aflibercept Injection. A One Month Pre-Post Intervention Follow Up Study Completed NCT03453281 Phase 4 Aflibercept Injection [Eylea]
40 A Randomized, Masked Multi-center Safety & Efficacy Study of the Effects of Preoperative & Postoperative Cataract Surgery Use of Difluprednate Ophthalmic Emulsion, 0.05% Compared to Prednisolone Acetate Ophthalmic Suspension 1% on Visual Acuity & Corneal Edema. Completed NCT01244334 Phase 4 Difluprednate ophthalmic emulsion 0.05%;Prednisolone acetate 1%
41 Non Invasive Positive Airway Pressure And Risk Of Myocardial Infarction In Acute Cardiogenic Pulmonary Edema: Continuous Positive Airway Pressure Vs Non Invasive Positive Pressure Ventilation Completed NCT00453947 Phase 4
42 TAHOE: Sustained InTravitreal DexAmetHasone Implant (Ozurdex) for Uveitic Macular Edema Completed NCT01870440 Phase 4 Ozurdex Intravitreal Injection (0.7 mg)
43 NEWTON: A Single-center Open Label Study Evaluating Intravitreal Aflibercept Injection (IAI) for Previously Treated Macular Edema Associated With Central Retinal Vein Occlusions Completed NCT01870427 Phase 4 Aflibercept (2.0 mg)
44 A Randomized, Parallel Group, Masked Clinical Study to Evaluate the Efficacy of Triamcinolone and Bevacizumab Through Intravitreal Injection With Individual or Simultaneous Drugs to Treatment of Diabetic Macular Edema Completed NCT00737971 Phase 4 Bevacizumab intravitreal;Triamcinolone;Triamcinolone + Bevacizumab
45 A Multicenter Randomized Study Evaluating Dosing Regimens for Treatment With Intravitreal Ranibizumab Injections in Subjects With Macular Edema Following Retinal Vein Occlusion Completed NCT01277302 Phase 4 Ranibizumab
46 Ranibizumab Treatment of Diabetic Macular Oedema With Bimonthly Monitoring After a Phase of Initial Treatment. A UK, 18-month, Prospective, Open-label, Multicentre, Single-arm, Phase IIIb Study With 12-month Primary Endpoint, Assessing the Efficacy and Safety of Ranibizumab in Patients With Visual Impairment Due to Diabetic Macular Oedema. Completed NCT01257815 Phase 4 Ranibizumab
47 Yellow Micropulse Laser 577-nm vs Infrared Diode Micropulse Laser 810-nm for the Treatment of Diabetic Macular Edema Completed NCT04359771 Phase 4
48 Long-Term Efficacy and Safety of Aflibercept Intravitreal Injections for the Treatment of Diabetic Macular Edema in Subjects Who Completed the Three Year VISTA-DME Trial Completed NCT02734407 Phase 4 aflibercept 2.0 mg
49 A Phase IV OpenLabelled Prospective Pilot Study of Intravitreal Macugen (Pegaptanib) for Ischaemic Diabetic Macular Oedema (MIDME Study) Completed NCT01175070 Phase 4 Intravitreal injection of pegaptanib sodium
50 Open-label Phase-4 Study to Examine the Change of Vision-related Quality of Life in Subjects With Diabetic Macular Edema (DME) During Treatment With Intravitreal Injections of 2 mg Aflibercept According to EU Label for the First Year of Treatment Completed NCT02581995 Phase 4 Eylea (Aflibercept, VEGF Trap-Eye, BAY86-5321)

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
Endothelial, Eye, Brain, Bone, Bone Marrow, Skin, Retina

Publications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

(show top 50) (show all 701)
# Title Authors PMID Year
1
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. 61 6 57
32442335 2020
2
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. 57 6
26537577 2016
3
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. 6
30737337 2019
4
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. 6
23541342 2013
5
Oxygen resuscitation does not ameliorate neonatal hypoxia/ischemia-induced cerebral edema. 54
20143414 2010
6
Synthesis and evaluation of benzoxazinone derivatives on activity of human neutrophil elastase and on hemorrhagic shock-induced lung injury in rats. 54
20417587 2010
7
A phase III randomized trial of the timing of meloxicam with iodine-125 prostate brachytherapy. 54
20350785 2010
8
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
9
Effectiveness of human atrial natriuretic peptide supplementation in pulmonary edema patients using the pulse contour cardiac output system. 54
20376887 2010
10
Expression of aquaporin 1 (AQP1) in human synovitis. 54
20149606 2010
11
Critical elements of clinical follow-up after hospital discharge for heart failure: insights from the EVEREST trial. 54
20197265 2010
12
Roles for novel pharmacological blockers of aquaporins in the treatment of brain oedema and cancer. 54
19566827 2010
13
Angioedema: 6 years experience with fourteen cases. 54
19709832 2010
14
MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases. 54
20308477 2010
15
Aquaporin-4 and traumatic brain edema. 54
20356447 2010
16
Tumor invasion after treatment of glioblastoma with bevacizumab: radiographic and pathologic correlation in humans and mice. 54
20167811 2010
17
Insulin modulates protease-activated receptor 2 signaling: implications for the innate immune response. 54
20118282 2010
18
Recurrent capillary leak syndrome following bortezomib therapy in a patient with relapsed myeloma. 54
20150504 2010
19
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
20
Intra-cerebral injection of neuromyelitis optica immunoglobulin G and human complement produces neuromyelitis optica lesions in mice. 54
20047900 2010
21
Glutamine attenuates hyperoxia-induced acute lung injury in mice. 54
19566832 2010
22
Substance P antagonists as a therapeutic approach to improving outcome following traumatic brain injury. 54
20129499 2010
23
Predictors of patient survival in continuous ambulatory peritoneal dialysis: 10-year experience in 2 major centers in Tehran. 54
20081304 2010
24
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
25
Compartment syndrome after Bothrops jararaca snakebite: monitoring, treatment, and outcome. 54
20095815 2010
26
Relationships of methacholine and adenosine monophosphate responsiveness with serum vascular endothelial growth factor in children with asthma. 54
20143643 2010
27
PPARgamma Agonists: Blood Pressure and Edema. 54
20069049 2010
28
Elevated levels of vascular endothelial growth factor (VEGF) and soluble vascular endothelial growth factor receptor (VEGFR)-2 in human malaria. 54
20065009 2010
29
The transcriptional programme of human heart valves reveals the natural history of infective endocarditis. 54
20126625 2010
30
Neuroprotective profile of novel SRC kinase inhibitors in rodent models of cerebral ischemia. 54
19741150 2009
31
Mechanisms of therapeutic effects of rhubarb on gut origin sepsis. 54
19930907 2009
32
Neutrophil-derived heparin binding protein--a mediator of increased vascular permeability after burns? 54
19477593 2009
33
Aquaporin-4 contributes to the resolution of peritumoural brain oedema in human glioblastoma multiforme after combined chemotherapy and radiotherapy. 54
19836227 2009
34
Abdominal compartment syndrome associated with capillary leak syndrome after liver transplantation. 54
19917414 2009
35
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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-AS1 NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) SNV Pathogenic 55871 rs199589947 3:45537808-45537808 3:45496316-45496316
2 LARS2-AS1 NM_015340.4(LARS2):c.1289C>T (p.Ala430Val) SNV Pathogenic 245613 rs879255606 3:45533058-45533058 3:45491566-45491566
3 LARS2 D438G Variation Pathogenic 992957
4 LARS2-AS1 NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly) SNV Likely pathogenic 691520 rs1575289366 3:45533082-45533082 3:45491590-45491590
5 LARS2 NM_015340.4(LARS2):c.683G>A (p.Arg228His) SNV Likely pathogenic 691519 rs770440975 3:45500311-45500311 3:45458819-45458819
6 LARS2 NM_015340.4(LARS2):c.388G>A (p.Ala130Thr) SNV Likely pathogenic 691521 rs1575240334 3:45458998-45458998 3:45417506-45417506
7 LARS2 NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile) SNV Likely pathogenic 691522 rs1575308774 3:45559449-45559449 3:45517957-45517957
8 LARS2 NM_015340.4(LARS2):c.457A>C (p.Asn153His) SNV Uncertain significance 191173 rs786205560 3:45461162-45461162 3:45419670-45419670
9 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

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 9.86 VEGFA SERPING1 NPPA MPO KNG1 C1S
2 extracellular region GO:0005576 9.65 VEGFA SERPING1 NPPA MPO KNG1 C1S
3 blood microparticle GO:0072562 9.46 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 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.83 VEGFA PTGS2 MPO AQP1 ALB
2 cellular response to mechanical stimulus GO:0071260 9.58 PTGS2 NPPA AQP1
3 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 9.54 VEGFA PTGS2 AQP1
4 prostaglandin biosynthetic process GO:0001516 9.52 PTGS2 PTGS1
5 blood coagulation, intrinsic pathway GO:0007597 9.51 SERPING1 KNG1
6 regulation of blood pressure GO:0008217 9.5 PTGS2 PTGS1 NPPA
7 lipoxygenase pathway GO:0019372 9.49 PTGS2 ALOX5
8 multicellular organismal water homeostasis GO:0050891 9.48 AQP4 AQP1
9 cyclooxygenase pathway GO:0019371 9.46 PTGS2 PTGS1
10 platelet degranulation GO:0002576 9.46 VEGFA SERPING1 KNG1 ALB
11 cellular water homeostasis GO:0009992 9.26 AQP4 AQP1
12 cellular oxidant detoxification GO:0098869 9.26 PTGS2 PTGS1 MPO ALB
13 water transport GO:0006833 8.8 MIP AQP4 AQP1

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

# Name GO ID Score Top Affiliating Genes
1 dioxygenase activity GO:0051213 9.5 PTGS2 PTGS1 ALOX5
2 peroxidase activity GO:0004601 9.43 PTGS2 PTGS1 MPO
3 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.37 PTGS2 ALOX5
4 channel activity GO:0015267 9.33 MIP AQP4 AQP1
5 prostaglandin-endoperoxide synthase activity GO:0004666 8.96 PTGS2 PTGS1
6 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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