MCID: HYD058
MIFTS: 41

Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Categories: Genetic 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 75 29 6
Hlasa 57 75
Edema 44

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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

UniProtKB/Swiss-Prot : 75 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 acquired angioedema 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 Arachidonic acid metabolism. Affiliated tissues include liver, and related phenotypes are seizures and decreased liver function

Description 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 844)
# Related Disease Score Top Affiliating Genes
1 acquired angioedema 32.2 C1S SERPING1
2 hereditary angioedema 32.2 C1S KNG1 SERPING1
3 brain edema 31.8 ALB AQP4 KNG1 MIP VEGFA
4 c1 inhibitor deficiency 31.7 C1S KNG1 SERPING1
5 acute hemorrhagic leukoencephalitis 31.5 AQP4 VEGFA
6 capillary leak syndrome 30.3 ALB C1S
7 ischemia 30.0 KNG1 MPO VEGFA
8 angioedema 29.5 C1S KNG1 PTGS1 PTGS2 SERPING1
9 tuberculous meningitis 29.2 ALOX5 VEGFA
10 arteries, anomalies of 29.0 ALB KNG1 VEGFA
11 complement deficiency 29.0 KNG1 SERPING1
12 neuroretinitis 28.7 AQP4 VEGFA
13 urticaria 28.4 C1S PTGS1 PTGS2
14 vascular disease 28.2 ALB KNG1 MPO VEGFA
15 myocardial infarction 26.5 ALB KNG1 MPO PTGS1 PTGS2 VEGFA
16 pulmonary edema 12.3
17 idiopathic edema 12.3
18 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 12.2
19 macular retinal edema 12.2
20 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 12.1
21 pulmonary edema of mountaineers 12.1
22 diabetic macular edema 12.1
23 corneal edema 12.1
24 idiopathic corneal edema 12.0
25 dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema 12.0
26 fetal edema 11.9
27 secondary corneal edema 11.9
28 contact lens corneal edema 11.8
29 angioedema, hereditary, type i 11.8
30 peho syndrome 11.8
31 edema, familial idiopathic, prepubertal 11.8
32 enteropathy, familial, with villous edema and immunoglobulin g2 deficiency 11.8
33 short limb dwarf edema iris coloboma 11.8
34 macular dystrophy, dominant cystoid 11.7
35 adult respiratory distress syndrome 11.6
36 lymphedema 11.5
37 peho-like syndrome 11.5
38 kwashiorkor 11.5
39 acute mountain sickness 11.5
40 hydrops fetalis, nonimmune 11.4
41 acute respiratory distress syndrome 11.3
42 splenomegaly, cytopenia, and vision loss 11.3
43 central retinal vein occlusion 11.1
44 angioedema, hereditary, type iii 11.1
45 papilledema 11.1
46 glaucoma 3, primary congenital, a 11.1
47 blepharochalasis 11.1
48 retinitis pigmentosa 11.0
49 angioedema induced by ace inhibitors 11.0
50 toxic pneumonitis 11.0

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

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

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

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

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 9.5 ALOX5 AQP4 MPO PTGS1 PTGS2 SERPING1
2 renal/urinary system MP:0005367 9.1 ALB AQP4 PTGS1 PTGS2 SELPLG VEGFA

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

Search Clinical Trials , 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:

41
Liver

Publications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Variations for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

75
# 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.1565C> A (p.Thr522Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199589947 GRCh37 Chromosome 3, 45537808: 45537808
2 LARS2 NM_015340.3(LARS2): c.1565C> A (p.Thr522Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199589947 GRCh38 Chromosome 3, 45496316: 45496316
3 LARS2 NM_015340.3(LARS2): c.1289C> T (p.Ala430Val) single nucleotide variant Pathogenic rs879255606 GRCh37 Chromosome 3, 45533058: 45533058
4 LARS2 NM_015340.3(LARS2): c.1289C> T (p.Ala430Val) single nucleotide variant Pathogenic rs879255606 GRCh38 Chromosome 3, 45491566: 45491566

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 18)
# Super pathways Score Top Affiliating Genes
1 12.25 ALOX5 MPO PTGS1 PTGS2
2
Show member pathways
11.94 ALOX5 PTGS1 PTGS2
3 11.84 C1S KNG1 SERPING1
4
Show member pathways
11.74 ALOX5 PTGS1 PTGS2
5 11.71 ALOX5 PTGS2 VEGFA
6 11.69 ALOX5 PTGS1 PTGS2
7
Show member pathways
11.35 ALB ALOX5 MPO PTGS1 PTGS2
8 11.31 PTGS1 PTGS2 VEGFA
9 11.18 KNG1 MPO SELPLG
10 11.14 PTGS2 VEGFA
11 11.04 PTGS1 PTGS2
12 11 PTGS1 PTGS2
13 10.9 PTGS1 PTGS2
14
Show member pathways
10.86 ALOX5 PTGS1 PTGS2
15 10.79 PTGS1 PTGS2
16 10.71 ALOX5 PTGS1 PTGS2
17 10.31 MPO PTGS1 PTGS2
18
Show member pathways
10.18 ALOX5 PTGS2

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 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 inflammatory response GO:0006954 9.76 ALOX5 KNG1 PTGS1 PTGS2
3 aging GO:0007568 9.67 MPO PTGS2 SERPING1
4 response to oxidative stress GO:0006979 9.54 MPO PTGS1 PTGS2
5 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.51 PTGS2 VEGFA
6 prostaglandin metabolic process GO:0006693 9.48 PTGS1 PTGS2
7 blood coagulation, intrinsic pathway GO:0007597 9.43 KNG1 SERPING1
8 water transport GO:0006833 9.4 AQP4 MIP
9 lipoxygenase pathway GO:0019372 9.32 ALOX5 PTGS2
10 prostaglandin biosynthetic process GO:0001516 9.26 PTGS1 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 water channel activity GO:0015250 9.32 AQP4 MIP
6 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 9.26 ALOX5 PTGS2
7 prostaglandin-endoperoxide synthase activity GO:0004666 8.96 PTGS1 PTGS2
8 peroxidase activity GO:0004601 8.8 MPO PTGS1 PTGS2

Sources for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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