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HLASA
MCID: HYD058
MIFTS: 43

Hydrops, Lactic Acidosis, and Sideroblastic Anemia (HLASA)

Categories: Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes
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Aliases & Classifications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

Name: Hydrops, Lactic Acidosis, and Sideroblastic Anemia 58 76 30 6
Hlasa 58 76
Edema 45 17
Hydrops-Lactic Acidosis-Sideroblastic Anemia-Multisystemic Failure Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
hydrops, lactic acidosis, and sideroblastic anemia:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
See all MalaCards categories (disease lists)
Orphanet: 60  
Inborn errors of metabolism


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Summaries for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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UniProtKB/Swiss-Prot : 76 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. Affiliated tissues include liver, and related phenotypes are hypertension and seizures

Description from OMIM: 617021
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Related Diseases for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

(show top 50) (show all 1155)
# Related Disease Score Top Affiliating Genes
1 brain edema 33.0 ALB AQP4 KNG1 MIP VEGFA
2 acquired angioedema 32.4 C1S SERPING1
3 hereditary angioedema 32.3 C1S KNG1 SERPING1
4 c1 inhibitor deficiency 31.9 C1S KNG1 SERPING1
5 angioedema 31.0 C1S KNG1 PTGS1 PTGS2 SERPING1
6 ischemia 30.5 KNG1 MPO VEGFA
7 capillary leak syndrome 30.0 ALB C1S
8 glomerulonephritis 29.9 ALB C1S MPO
9 arteries, anomalies of 29.8 ALB KNG1 VEGFA
10 background diabetic retinopathy 29.7 ALB VEGFA
11 neuroretinitis 29.4 AQP4 VEGFA
12 vascular disease 29.3 ALB KNG1 MPO VEGFA
13 urticaria 29.1 C1S PTGS1 PTGS2 SERPING1
14 tuberculous meningitis 29.1 ALOX5 VEGFA
15 myocardial infarction 28.7 ALB KNG1 MPO PTGS1 PTGS2 VEGFA
16 intestinal disease 28.7 ALB MPO PTGS2 VEGFA
17 rheumatic disease 28.7 C1S PTGS1 PTGS2
18 pulmonary edema 12.5
19 idiopathic edema 12.4
20 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 12.4
21 macular retinal edema 12.4
22 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 12.3
23 diabetic macular edema 12.3
24 remitting seronegative symmetrical synovitis with pitting edema 12.3
25 pulmonary edema of mountaineers 12.3
26 corneal edema 12.2
27 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 12.2
28 idiopathic corneal edema 12.2
29 dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema 12.1
30 fetal edema 12.1
31 secondary corneal edema 12.0
32 acute mountain sickness 12.0
33 angioedema, hereditary, type i 12.0
34 contact lens corneal edema 12.0
35 peho syndrome 12.0
36 edema, familial idiopathic, prepubertal 11.9
37 enteropathy, familial, with villous edema and immunoglobulin g2 deficiency 11.9
38 short limb dwarf edema iris coloboma 11.9
39 macular dystrophy, dominant cystoid 11.8
40 adult respiratory distress syndrome 11.8
41 kwashiorkor 11.7
42 peho-like syndrome 11.6
43 hydrops fetalis, nonimmune 11.5
44 acute respiratory distress syndrome 11.5
45 splenomegaly, cytopenia, and vision loss 11.5
46 hereditary angioedema with normal c1inh 11.4
47 trichinosis 11.3
48 anthrax disease 11.3
49 central retinal vein occlusion 11.3
50 angioedema, hereditary, type iii 11.3

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



Diseases related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia
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Symptoms & Phenotypes for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 seizures 33 HP:0001250
3 respiratory insufficiency 33 HP:0002093
4 eeg abnormality 33 HP:0002353
5 arrhythmia 33 HP:0011675
6 decreased liver function 33 HP:0001410
7 patent ductus arteriosus 33 HP:0001643
8 intrauterine growth retardation 33 HP:0001511
9 thrombocytopenia 33 HP:0001873
10 lactic acidosis 33 HP:0003128
11 ventricular septal defect 33 HP:0001629
12 oligohydramnios 33 HP:0001562
13 sideroblastic anemia 33 HP:0001924

Symptoms via clinical synopsis from OMIM:

58
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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 ALOX5 AQP4 MPO PTGS1 PTGS2 SERPING1
2 renal/urinary system MP:0005367 9.1 ALB AQP4 PTGS1 PTGS2 SELPLG VEGFA
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Drugs & Therapeutics for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

Cochrane evidence based reviews: edema

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Genetic Tests for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

# Genetic test Affiliating Genes
1 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 30 LARS2
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Anatomical Context for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

42
Liver
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Publications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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Variations for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

76
# Symbol AA change Variation ID SNP ID
1 LARS2 p.Thr522Asn VAR_070094 rs199589947
2 LARS2 p.Ala430Val VAR_076997 rs879255606

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LARS2 NM_015340.3(LARS2): c.457A> C (p.Asn153His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205560 GRCh37 Chromosome 3, 45461162: 45461162
2 LARS2 NM_015340.3(LARS2): c.457A> C (p.Asn153His) single nucleotide variant Conflicting interpretations of pathogenicity rs786205560 GRCh38 Chromosome 3, 45419670: 45419670
3 LARS2 NM_015340.3(LARS2): c.1565C> A (p.Thr522Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199589947 GRCh37 Chromosome 3, 45537808: 45537808
4 LARS2 NM_015340.3(LARS2): c.1565C> A (p.Thr522Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199589947 GRCh38 Chromosome 3, 45496316: 45496316
5 LARS2 NM_015340.4(LARS2): c.1289C> T (p.Ala430Val) single nucleotide variant Pathogenic rs879255606 GRCh37 Chromosome 3, 45533058: 45533058
6 LARS2 NM_015340.4(LARS2): c.1289C> T (p.Ala430Val) single nucleotide variant Pathogenic rs879255606 GRCh38 Chromosome 3, 45491566: 45491566
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Expression for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
NF-kappaB Signaling 4
12.22 ALOX5 MPO PTGS1 PTGS2
2
Arachidonic acid metabolism 67
Show member pathways
 11.92 ALOX5 PTGS1 PTGS2
3
Complement and coagulation cascades 38 1
11.83 C1S KNG1 SERPING1
4
Linoleic acid metabolism 38
Show member pathways
 11.72 ALOX5 PTGS1 PTGS2
5
Serotonergic synapse 38
11.69 ALOX5 PTGS1 PTGS2
6
Interleukin-4 and 13 signaling 67
11.67 ALOX5 PTGS2 VEGFA
7
Selenium Micronutrient Network 1
Show member pathways
 11.36 ALB ALOX5 MPO PTGS1 PTGS2
8
Celecoxib Pathway, Pharmacodynamics 62
11.31 PTGS1 PTGS2 VEGFA
9
amb2 Integrin signaling 1
11.18 KNG1 MPO SELPLG
10
Photodynamic therapy-induced HIF-1 survival signaling 1
11.14 PTGS2 VEGFA
11
Prostaglandin Synthesis and Regulation 1
11.03 PTGS1 PTGS2
12
Ibuprofen Pathway, Pharmacodynamics 62
10.99 PTGS1 PTGS2
13
Prostaglandin 2 biosynthesis and metabolism FM 23
10.89 PTGS1 PTGS2
14
HETE and HPETE biosynthesis and metabolism 23
Show member pathways
 10.86 ALOX5 PTGS1 PTGS2
15
Overview of nanoparticle effects 1
10.77 PTGS1 PTGS2
16
Eicosanoid Synthesis 1
10.71 ALOX5 PTGS1 PTGS2
17
Etoposide Pathway, Pharmacokinetics/Pharmacodynamics 62
10.31 MPO PTGS1 PTGS2
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GO Terms for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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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 ALB ALOX5 C1S KNG1 MPO SERPING1
2 extracellular space GO:0005615 9.7 ALB ALOX5 C1S KNG1 MPO SERPING1
3 blood microparticle GO:0072562 9.26 ALB C1S KNG1 SERPING1
4 platelet alpha granule lumen GO:0031093 8.92 ALB KNG1 SERPING1 VEGFA

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 ALB MPO PTGS2 VEGFA
2 aging GO:0007568 9.69 MPO PTGS2 SERPING1
3 inflammatory response GO:0006954 9.67 ALOX5 KNG1 PTGS1 PTGS2
4 response to oxidative stress GO:0006979 9.61 MPO PTGS1 PTGS2
5 long-chain fatty acid biosynthetic process GO:0042759 9.49 ALOX5 PTGS2
6 prostaglandin metabolic process GO:0006693 9.48 PTGS1 PTGS2
7 water transport GO:0006833 9.46 AQP4 MIP
8 blood coagulation, intrinsic pathway GO:0007597 9.4 KNG1 SERPING1
9 prostaglandin biosynthetic process GO:0001516 9.32 PTGS1 PTGS2
10 lipoxygenase pathway GO:0019372 9.26 ALOX5 PTGS2
11 platelet degranulation GO:0002576 9.26 ALB KNG1 SERPING1 VEGFA
12 cyclooxygenase pathway GO:0019371 9.16 PTGS1 PTGS2
13 cellular oxidant detoxification GO:0098869 8.92 ALB MPO PTGS1 PTGS2

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 KNG1 MPO VEGFA
2 heme binding GO:0020037 9.54 MPO PTGS1 PTGS2
3 channel activity GO:0015267 9.43 AQP4 MIP
4 dioxygenase activity GO:0051213 9.33 ALOX5 PTGS1 PTGS2
5 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.32 ALOX5 PTGS2
6 water channel activity GO:0015250 9.26 AQP4 MIP
7 peroxidase activity GO:0004601 9.13 MPO PTGS1 PTGS2
8 prostaglandin-endoperoxide synthase activity GO:0004666 8.62 PTGS1 PTGS2
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Sources for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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