Hydrops, Lactic Acidosis, and Sideroblastic Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617021

MedGen ⁴² C4310761 CN237417

MeSH ⁴⁴ D000756 D004487 D008659

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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 brain 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 Arachidonic acid metabolism. Affiliated tissues include liver, lung and brain, and related phenotypes are hypertension and seizures

Description from OMIM: 617021

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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 1055)

#	Related Disease	Score	Top Affiliating Genes
1	brain edema	33.2	ALB AQP4 KNG1 MIP VEGFA
2	hereditary angioedema	32.6	C1S KNG1 SERPING1
3	c1 inhibitor deficiency	31.9	C1S KNG1 SERPING1
4	acquired angioedema	31.8	C1S SERPING1
5	angioedema	31.4	C1S KNG1 PTGS1 PTGS2 SERPING1
6	ischemia	30.5	KNG1 MPO VEGFA
7	capillary leak syndrome	29.9	ALB C1S
8	glomerulonephritis	29.6	ALB C1S MPO
9	background diabetic retinopathy	29.6	ALB VEGFA
10	arteries, anomalies of	29.5	ALB KNG1 VEGFA
11	vascular disease	29.4	ALB KNG1 MPO VEGFA
12	neuroretinitis	29.3	AQP4 VEGFA
13	urticaria	29.3	C1S PTGS1 PTGS2 SERPING1
14	tuberculous meningitis	29.1	ALOX5 VEGFA
15	myocardial infarction	29.0	ALB KNG1 MPO PTGS1 PTGS2 VEGFA
16	intestinal disease	28.8	ALB MPO PTGS2 VEGFA
17	pulmonary edema	12.5
18	idiopathic edema	12.4
19	dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	12.4
20	macular retinal edema	12.4
21	remitting seronegative symmetrical synovitis with pitting edema	12.3
22	encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	12.3
23	diabetic macular edema	12.3
24	pulmonary edema of mountaineers	12.2
25	corneal edema	12.2
26	idiopathic corneal edema	12.1
27	dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema	12.1
28	fetal edema	12.1
29	secondary corneal edema	12.0
30	contact lens corneal edema	12.0
31	acute mountain sickness	12.0
32	peho syndrome	12.0
33	edema, familial idiopathic, prepubertal	11.9
34	enteropathy, familial, with villous edema and immunoglobulin g2 deficiency	11.9
35	short limb dwarf edema iris coloboma	11.9
36	macular dystrophy, dominant cystoid	11.8
37	adult respiratory distress syndrome	11.7
38	angioedema, hereditary, type i	11.7
39	kwashiorkor	11.6
40	peho-like syndrome	11.6
41	hydrops fetalis, nonimmune	11.5
42	acute respiratory distress syndrome	11.5
43	splenomegaly, cytopenia, and vision loss	11.4
44	trichinosis	11.3
45	anthrax disease	11.3
46	central retinal vein occlusion	11.3
47	angioedema, hereditary, type iii	11.3
48	papilledema	11.3
49	analbuminemia	11.3
50	glaucoma 3, primary congenital, a	11.2

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

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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 13)

#	Description	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

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

Sources

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

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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

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Anatomical Context for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

⁴¹

Liver, Lung, Brain, Kidney, Bone, Heart, Endothelial

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Publications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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Genes for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Genes related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LARS2	Leucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	1378.76	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)
2	C1S	Complement C1s	Protein Coding	18.47	Novoseek inferred ⁵⁵	11718165 16610507 15321158 (more) 11126274 19160940 11524698 8511092 7483505 16463755 10203164 9095417 12505453 16310338 19940422 19709832 15935642 14617586
3	SELPLG	Selectin P Ligand	Protein Coding	18.16	Novoseek inferred ⁵⁵	15123773 8980964 7599839 (more) 9351625 9202956 14980286 16162765 16786176 10400043 19771274
4	AQP4	Aquaporin 4	Protein Coding	17.87	Novoseek inferred ⁵⁵	19153045 19096776 19836227 (more) 19000426 15677340 17622964 12162729 15723236 11243009 17701333 14645363 20143414 20047900 14734638 20356447 18065151 17928579 17335082 11796780 19533155 17618977 19681905 15561416 16089144 15651229 16133546 16313100
5	ALB	Albumin	Protein Coding	17.83	Novoseek inferred ⁵⁵	11420914 19374089 17321950 (more) 12708949 9398127 12746661 1447074 14580047 1536412 10992901 8948376 1796045 16580285 8942422 8881493 8401093 17718922 17448310 11430540 8656473 17202201 15829162 15325533 19629555 11713150 10896337 10352599 9259139 1782939 1568149 1375008 8105968 11483935 15122706 19556043 1797334 19352113 18087120 17409769 17362162 17328680 17343081 16939063 15760552 15003932 12887837 12740780 12172291 12166776 11442575 10921506 10447726 17266850 17496406 16534226 15086908 9688461 9049453 9025223 8789548 8672009 9414399 8735630 8794277 8026208 8219217 10078302 1504745 1942297 2050328 7980630 8395291 1811351 2252240 2225969 2106103 17968594 17622953 17474561 16865084 15340186 9522902 9213788 9059163 9049217 8502517 20150504 20081304 19917414 19348381 18459107 17892874 17261183 8637261 8287667 8342598 2344315 18948692 18571450
6	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	17.08	Novoseek inferred ⁵⁵	15994395 8929501 17473188 (more) 11236633 16829629 10836914 19624346 12182416 16826241 10769671 17718922 9689324 15122706 11131986 14753496 12841659 12521215 14517472 17245625 10928051 8942877 19385471 14753452 10849907 10774874 18346582 11459087 10215998 19169227 12425822 15671629 15145186 12524373 2089955 11717873 11685611 16456664 17619562 18246603 19327291 20143643 15522734 15168155 12668796 12558942 12168808 11839635 11513303 11334422 9440033 17144494 16874958 12744358 12545262 12899344 12235821 11245271 10706506 9453354 12833685 12543720 12543719 12235206 11123261 10425008 9537336 9224211 8563931 9524107 7528359 20167811 19174400 18567356 18567355 18320142 17276498 17082487 16354983 16304990 8202606 20065009 19050630 18988927 18339029 17722967 17895817 17867314 19046206 18404258 18702899 18389177 14994415 12582307 12635663 12364953 10201297 10349336 11929188 10704059
7	SERPING1	Serpin Family G Member 1	Protein Coding	16.95	Novoseek inferred ⁵⁵	10093876 1862309 15580551 (more) 14635117
8	ALOX5	Arachidonate 5-Lipoxygenase	Protein Coding	16.51	Novoseek inferred ⁵⁵	7541689 1478686 8032607 (more) 9444606 8129222 8683259 7889293 16491449 1665293 1281720 11958283 19131228
9	MPO	Myeloperoxidase	Protein Coding	16.39	Novoseek inferred ⁵⁵	1324280 8891584 18854985 (more) 1314853 18246603 19566832 8281452 8113982 10096975 11557312 12771616 19540209 1535326 8395246 8910867 17292406 17220373 18177902 18197144 1501127 17885748 18156155 18214165 15867791 9831321 19558673 17047516 15947338 12522141 9888841 9113093 15630367 14607958 11697546 8575515 9535542 11932067 12352050 15341509 18180122 19930907 20417587
10	KNG1	Kininogen 1	Protein Coding	16.3	Novoseek inferred ⁵⁵	8171943 8306095 9833105 (more) 2316620 2323344 2115661 11199871 16282771 19400930 18025295 17418383 10427658 7653889 7523980 8009499 1862741 19076006 17665039 8735630 9353570 9105704 7693286 1645969 17607158 14753436 18206518 10210260 8582087 1281720 2076490 19160940 16142635 10783504 2128586 12922922 18207562
11	PTGS2	Prostaglandin-Endoperoxide Synthase 2	Protein Coding	16.15	Novoseek inferred ⁵⁵	7991575 12749519 9707287 (more) 15087954 18854985 12411415 11060900 11695250 15957551 20052522 12877584 16764647 20350785 15940774 13680221 12901032 17523710 16706694 11525842 8906578 16785827 12378813 15942684 18194346 16760523 15892676 14575647 10956225 10665781 10483780 16354389 15496168 12745131 11712212 11462976 11177775 11165997 10449199 19059783 15926604 9175123 16223182 14691350 12576462
12	PTGS1	Prostaglandin-Endoperoxide Synthase 1	Protein Coding	16.08	Novoseek inferred ⁵⁵	12877584 11525842 10786968 (more) 10985084 11958283 11462976 10483780
13	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	16.03	Novoseek inferred ⁵⁵	19566827 10652478 15561416 (more) 11243009 18045170 16582023 20149606 15809194 17613227 11450025 15561403

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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

Sources

Expression for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

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	NF-kappaB Signaling ⁴	12.25	ALOX5 MPO PTGS1 PTGS2
2	Arachidonic acid metabolism ⁶⁶ Show member pathways alpha-tocopherol degradation ¹ Amodiaquine Pathway, Pharmacokinetics ⁶¹ anandamide degradation ¹ C20 prostanoid biosynthesis ¹ COX reactions ⁶⁶ leukotriene biosynthesis ¹ Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE) ⁶⁶ Synthesis of 12-eicosatetraenoic acid derivatives ⁶⁶ Synthesis of 15-eicosatetraenoic acid derivatives ⁶⁶ Synthesis of 5-eicosatetraenoic acids ⁶⁶ Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET) ⁶⁶ Synthesis of Leukotrienes (LT) and Eoxins (EX) ⁶⁶ Synthesis of Lipoxins (LX) ⁶⁶ Synthesis of Prostaglandins (PG) and Thromboxanes (TX) ⁶⁶	11.94	ALOX5 PTGS1 PTGS2
3	Complement and coagulation cascades ¹ ³⁷	11.84	C1S KNG1 SERPING1
4	Linoleic acid metabolism ³⁷ Show member pathways alpha-Linolenic acid metabolism ³⁷ Arachidonic acid metabolism ³⁷	11.74	ALOX5 PTGS1 PTGS2
5	Serotonergic synapse ³⁷	11.71	ALOX5 PTGS1 PTGS2
6	Interleukin-4 and 13 signaling ⁶⁶	11.69	ALOX5 PTGS2 VEGFA
7	Selenium Micronutrient Network ¹ Show member pathways Folate Metabolism ¹ Metabolism of ingested MeSeO2H into MeSeH ⁶⁶ thioredoxin pathway ¹ Vitamin B12 Metabolism ¹	11.36	ALB ALOX5 MPO PTGS1 PTGS2
8	Celecoxib Pathway, Pharmacodynamics ⁶¹	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	11.04	PTGS1 PTGS2
12	Ibuprofen Pathway, Pharmacodynamics ⁶¹	11	PTGS1 PTGS2
13	Prostaglandin 2 biosynthesis and metabolism FM ²²	10.9	PTGS1 PTGS2
14	HETE and HPETE biosynthesis and metabolism ²² Show member pathways lipoxin biosynthesis ¹ resolvin D biosynthesis ¹ Synthesis of Hepoxilins (HX) and Trioxilins (TrX) ⁶⁶	10.86	ALOX5 PTGS1 PTGS2
15	Overview of nanoparticle effects ¹	10.79	PTGS1 PTGS2
16	Eicosanoid Synthesis ¹	10.71	ALOX5 PTGS1 PTGS2
17	Etoposide Pathway, Pharmacokinetics/Pharmacodynamics ⁶¹	10.31	MPO PTGS1 PTGS2
18	aspirin-triggered lipoxin biosynthesis ¹ Show member pathways aspirin triggered resolvin D biosynthesis ¹ aspirin triggered resolvin E biosynthesis ¹	10.18	ALOX5 PTGS2

Sources

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	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

Sources

Sources for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Hydrops, Lactic Acidosis, and Sideroblastic Anemia (HLASA)

Aliases & Classifications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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:

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

Symptoms & Phenotypes for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

MGI Mouse Phenotypes related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia:

Drugs & Therapeutics 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:

Anatomical Context for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

Publications for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Genes for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

Genes related to Hydrops, Lactic Acidosis, and Sideroblastic Anemia (1 elite genes):

Variations for Hydrops, Lactic Acidosis, and Sideroblastic Anemia

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

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

Expression 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:

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:

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

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

Sources for Hydrops, Lactic Acidosis, and Sideroblastic Anemia