Hydrops Fetalis malady

NIH Rare Diseases: Hydrops fetalis is a serious condition in which abnormal amounts of fluid build up in two or more body areas of a fetus or newborn. There are two types of hydrops fetalis: immune and nonimmune. Immune hydrops fetalis is a complication of a severe form of Rh incompatibility. Rh compatibility causes massive red blood cell destruction, which leads to several problems, including total body swelling. Severe swelling can interfere with how the body organs work. Nonimmune hydrops fetalis occurs when a disease or medical condition disrupts the body's ability to manage fluid. There are three main causes for this type: heart or lung problems, severe anemia (thalassemia), and genetic defects, including Turner syndrome. The exact cause depends on which form a baby has.³⁰

MalaCards: Hydrops Fetalis, also known as familial non-immune hydrops fetalis, is related to hemophagocytic lymphohistiocytosis and gaucher's disease. An important gene associated with Hydrops Fetalis is GPI (glucose-6-phosphate isomerase), and among its related pathways are O2/CO2 exchange in erythrocytes and African trypanosomiasis. The compounds opium and 4-Carboxycinnamic Acid have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and t cells, and related mouse phenotypes are skeleton and renal/urinary system.

Wikipedia: Hydrops fetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at...⁴⁴ more...

hydrops fetalis 7 30 32 43 familial non-immune hydrops fetalis 30 hydrops fetalis, nonimmune 32

idiopathic hydrops fetalis 30 hydrops fetalis nonimmune 30

Diseases related to hydrops fetalis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 165)

id	Related Disease	Score	Top Affiliating Genes
1	hemophagocytic lymphohistiocytosis	31.2	UNC13D, PRF1
2	gaucher's disease	30.6	GUSB, HBB, GBA
3	lysosomal storage disease	30.6	GUSB, NEU1, GBA
4	pmm2-cdg (cdg-ia)	30.0	PMM2, NEU1
5	rh isoimmunization	29.8	RHD, EPO
6	alpha thalassemia	29.1	G6PD, HBA1, HBA2, HBB, HBZ
7	down syndrome	27.8	CGA, GPI, ALB, PTPN11, G6PD, HBB
8	noonan syndrome	27.3	ALB, PTPN11, G6PD, TALDO1, PMM2, SLC17A5
9	hemolytic anemia	27.1	GPI, SPTB, RHD, G6PD, HBA2, HBB
10	anemia	24.5	BLMH, UROS, BCS1L, GUSB, GPI, ALB
11	leukemia	23.3	CGA, FLT4, GUSB, GPI, ALB, PTPN11
12	hemoglobin constant spring	13.6	HBA2, HBB
13	heinz body anemia	13.5	HBA1, HBA2, HBB
14	capillary hemangioma	13.5	FLT4, HBA1, HBA2
15	ivemark syndrome	13.5	HBA1, HBA2, HBB
16	monogenic disease	13.5	HBA1, HBA2, HBB
17	lymphangioma	13.5	FLT4, HBA1, HBA2
18	choledocholithiasis	13.5	GUSB, ALB, SLC17A5
19	dengue disease	13.5	PTPN11, SLC17A5, NEU1
20	myoclonus	13.4	GPI, NEU1, GBA, GBE1
21	beta thalassemia	13.4	HBA2, HBB
22	diamond-blackfan anemia	13.3	HBB, HBE1
23	hemangiopericytoma	13.3	FLT4, HBA1, HBA2
24	hepatitis	13.3	GUSB, GPC3, ALB, SLC17A5
25	neonatal anemia	13.3	HBA2, EPO
26	hepatitis d	13.3	IGHV4-39, HBE1, SLC17A5
27	nephrocalcinosis	13.2	ALB, HBA2, HBB
28	vacuolar myopathy	13.2	GUSB, SPTB, NEU1
29	nonalcoholic steatohepatitis	13.2	ALB, HBA1, HBB, SLC17A5
30	congenital disorder of glycosylation	13.2	ALB, ALG1, PMM2, NEU1
31	hypersplenism	13.2	ALB, EPO, GBA
32	erythremia	13.1	HBA1, HBB, EPO
33	chediak-higashi syndrome	13.1	UNC13D, GUSB, PRF1
34	hypofibrinogenemia	13.1	UNC13D, ALB, PRF1
35	mucopolysaccharidosis iv	13.1	GUSB, NEU1
36	schistosomiasis	13.1	GUSB, IGHV4-39, ALB, SLC17A5
37	trypanosomiasis	13.1	IGHV4-39, ALB, HBA1, HBA2, HBB
38	periodontal disease	13.1	GUSB, ALB, HBA1, HBB, SLC17A5
39	glucosephosphate isomerase deficiency	13.0	GPI, G6PD
40	autonomic neuropathy	13.0	ALB, HBA1, HBA2, EPO
41	pyropoikilocytosis hereditary	13.0	SPTA1, SPTB
42	congenital nonspherocytic hemolytic anemia	13.0	GPI, G6PD
43	pyropoikilocytosis	12.9	SPTA1, SPTB
44	porphyria cutanea tarda	12.9	ALB, SLC17A5, EPO
45	erythrocytosis	12.9	HBA2, HBB, EPO
46	variegate porphyria	12.9	UROS, ALB, SLC17A5, EPO
47	hereditary spherocytosis	12.9	G6PD, HBA2, HBB
48	hemangioblastoma	12.9	FLT4, HBA1, EPO
49	renal hypertension	12.9	ALB, EPO
50	splenomegaly	12.9	HBA2, HBB, SLC17A5, EPO, GBA

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to hydrops fetalis:

²²

MGI Mouse Phenotypes related to hydrops fetalis:

²⁵ (show all 12)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	skeleton phenotype	MP:0005390	8.9	UROS, UNC13D, PTPN11, SPTA1, HBB, NEU1
2	renal/urinary system phenotype	MP:0005367	8.5	ALB, SPTA1, SPTB, HBB, SLC14A1, UROS
3	integument phenotype	MP:0010771	8.0	BLMH, GBA, UROS, EPO, NEU1, HBB
4	hematopoietic system phenotype	MP:0005397	7.9	EPO, HBZ, UROS, UNC13D, GPI, GPC3
5	liver/biliary system phenotype	MP:0005370	7.9	EPO, HBB, NEU1, SPTB, SPTA1, PTPN11
6	immune system phenotype	MP:0005387	7.9	GBA, BLMH, UROS, UNC13D, CCBE1, GPC3
7	reproductive system phenotype	MP:0005389	7.9	SLC14A1, HBZ, HBB, HBA1, SPTB, SPTA1
8	cardiovascular system phenotype	MP:0005385	6.4	SPTB, FLT4, GPI, GBE1, BLMH, GBA
9	cellular phenotype	MP:0005384	6.3	GPC3, GUSB, PTPN11, GBE1, GBA, EPO
10	mortality/aging	MP:0010768	5.8	GBA, NEU1, SLC14A1, PMM2, PRF1, HBA1
11	growth/size phenotype	MP:0005378	5.5	GPC3, GPI, BLMH, UROS, CGA, FLT4
12	homeostasis/metabolism phenotype	MP:0005376	4.2	PTPN11, G6PD, HBA2, HBB, TALDO1, PRF1

Articles related to hydrops fetalis:

(show all 28)

id	Title	Authors	Year	Affiliating Genes
1	Hemophagocytic lymphohistiocytosis with Munc13-4 muta tion: a cause of recurrent fatal hydrops fetalis. (21646258)	Bechara E.... PondarrAc C.	2011	UNC13D
2	Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? (20638314)	LActicAce N.... AttiAc-Bitach T.	2010	PMM2
3	Hydrops fetalis and early neonatal multiple organ fai lure in familial hemophagocytic lymphohistiocytosis. (19595804)	Vermeulen M.J.... van de Kamp J.M.	2009	PRF1
4	A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis. (17161635)	Meulemans A.... Jaeken J.	2007	MT-TE
5	Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease. (17095351)	Valayannopoulos V.... Saudubray J.M.	2006	TALDO1
6	A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. (15211660)	Yoshida R.... Ogata T.	2004	PTPN11
7	Hydrops fetalis associated with homozygosity for hemoglobin Taybe (alpha 38/39 THR deletion) in newborn triplets. (15224363)	Arnon S.... Jaber L.	2004	HBA1
8	Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis. (14711113)	Cheng Y.... Hibbard J.U.	2003	GUSB
9	Fatal hydrops fetalis caused by anti-D in a mother with partial D. (14607035)	Cannon M.... Schucker J.	2003	RHD
10	Extreme second-trimester serum analyte values in down syndrome pregnancies with hydrops fetalis. (12375682)	Benn P.A.... Ingardia C.J.	2002	CGA
11	In utero erythrocyte transfusion for fetal xerocytosis associated with severe anemia and non-immune hydrops fetalis. (11483935)	Ogburn P.L.... Ramsey P.S.	2001	ALB
12	Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis. (10833378)	Soma H.... Kudo M.	2000	GBA
13	Glycogen storage disease type IV presenting as hydrops fetalis. (10384399)	Alegria A.... Maire I.	1999	GBE1
14	Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling. (9793981)	Van Eyndhoven H.W.... Kleijer W.J.	1998	GUSB
15	Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus. (9635296)	Reissner K.... Sidransky E.	1998	GBA
16	Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. (9155679)	Molyneux A.J.... Daish P.	1997	GUSB
17	Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. (8644704)	Vervoort R.... Lissens W.	1996	GUSB
18	Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings. (8831129)	Van Dorpe J.... Fryns J.P.	1996	GUSB
19	Hematologic disorders and nonimmune hydrops fetalis. (8822334)	Arcasoy M.O.... Gallagher P.G.	1995	G6PD
20	Infantile lethal variant of Simpson-Golabi-Behmel syn drome associated with hydrops fetalis. (8599356)	Terespolsky D.... Weksberg R.	1995	GPC3
21	Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. (7883966)	Gallagher P.G.... Forget B.G.	1995	SPTA1, SPTB
22	Hydrops fetalis and G-6-PD deficiency (7640754)	Masson P.... CAccile W.	1995	G6PD
23	Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis. (8496396)	Nelson J.... Broadhead D.	1993	GUSB
24	Erythropoietin in human fetuses with immune hemolytic anemia and hydrops fetalis. (8355933)	Moya F.R.... Hobbins J.C.	1993	EPO
25	Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. (8111413)	Wu B.M.... Sly W.S.	1993	GUSB
26	Molecular analysis of a patient with hydrops fetalis caused by beta- glucuronidase deficiency, and evidence for additional pseudogenes. (8111412)	Vervoort R.... Liebaers I.	1993	GUSB
27	Lysosomal storage diseases presenting as transient or persistent hydrops fetalis. (1799421)	Bonduelle M.... Liebaers I.	1991	GUSB
28	Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis. (1833732)	Lissens W.... Liebaers I.	1991	GUSB

Genes related to hydrops fetalis according to GeneCards:

(show all 33)

id	Symbol	Description	Score	GeneCards Section Context
1	GPI	glucose-6-phosphate isomerase	11.1	Summaries
2	GUSB	glucuronidase, beta	11.1	Publications
3	GBA	glucosidase, beta, acid	11.0	Publications
4	HBA2	hemoglobin, alpha 2	11.0
5	NEU1	sialidase 1 (lysosomal sialidase)	11.0
6	UROS	uroporphyrinogen III synthase	11.0
7	ALG1	asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)	11.0
8	SLC14A1	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	11.0
9	HBA1	hemoglobin, alpha 1	11.0	Publications
10	GBE1	glucan (1,4-alpha-), branching enzyme 1	11.0	Publications
11	GPC3	glypican 3	11.0	Publications
12	PTPN11	protein tyrosine phosphatase, non-receptor type 11	11.0	Publications
13	SLC17A5	solute carrier family 17 (anion/sugar transporter), member 5	11.0
14	CCBE1	collagen and calcium binding EGF domains 1	11.0
15	FLT4	fms-related tyrosine kinase 4	11.0
16	HBB	hemoglobin, beta	11.0
17	ALB	albumin	11.0	Publications
18	MT-TE	mitochondrially encoded tRNA glutamic acid	11.0	Publications
19	IGHV4-39	immunoglobulin heavy variable 4-39	11.0
20	BCS1L	BCS1-like (S. cerevisiae)	11.0
21	HBZ	hemoglobin, zeta	11.0
22	TALDO1	transaldolase 1	11.0	Publications
23	UNC13D	unc-13 homolog D (C. elegans)	11.0	Publications
24	HBE1	hemoglobin, epsilon 1	11.0
25	BLMH	bleomycin hydrolase	11.0
26	SPTA1	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	11.0	Publications
27	RHD	Rh blood group, D antigen	11.0	Publications
28	SPTB	spectrin, beta, erythrocytic	11.0	Publications
29	PRF1	perforin 1 (pore forming protein)	11.0	Publications
30	PMM2	phosphomannomutase 2	11.0	Publications
31	CGA	glycoprotein hormones, alpha polypeptide	11.0	Publications
32	G6PD	glucose-6-phosphate dehydrogenase	11.0	Publications
33	EPO	erythropoietin	11.0	Publications

Pathways related to hydrops fetalis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	O2/CO2 exchange in erythrocytes38	10.1	HBB, HBA2, HBA1
2	African trypanosomiasis20	10.0	HBA2, HBB, HBA1
3	Malaria20	10.0	HBB, HBA2, HBA1
4	Lysosome20	9.8	NEU1, GUSB, GBA, SLC17A5
5	Pentose phosphate pathway20	9.4	TALDO1, G6PD, GPI
6	Pentose Phosphate Pathway (Erythrocyte)34	9.2	GPI, G6PD
7	Metabolic pathways20	8.1	UROS, GBE1, GBA, GUSB, GPI, ALG1

Compounds related to hydrops fetalis according to GeneDecks:

(show top 50)    (show all 59)

id	Compound	Score	Top Affiliating Genes
1	opium32	10.5	SLC17A5, GUSB
2	4-Carboxycinnamic Acid9 9	11.5	HBA1, HBB
3	2-[(2-methoxy-5-methylphenoxy)methyl]pyridine9 9	11.5	HBA1, HBB
4	2-[4-({[(3,5-DICHLOROPHENYL)AMINO]CARBONYL}AMINO)PHENOXY]-2-METHYLPROPANOIC ACID9 9	11.5	HBA1, HBB
5	1,3,5-BENZENETRICARBOXYLIC ACID9 9	11.5	HBA1, HBB
6	SEBACIC ACID9 9	11.5	HBB, HBA1
7	2,6-DICARBOXYNAPHTHALENE9 9	11.5	HBA1, HBB
8	4-[(5-methoxy-2-methylphenoxy)methyl]pyridine9 9	11.4	HBA1, HBB
9	2-{4-[(3,5-DIMETHYLANILINO)-CARBONYL-METHYL]-PHENOXY}-2-METHYLPROPIONIC ACID9 9	11.4	HBA1, HBB
10	phosphatidylserine32 9 9	12.3	NEU1, TALDO1
11	antipyrine32 9 9	12.2	GUSB, ALB, SLC17A5
12	iron dextran32 9 9	12.0	EPO, HBA1, HBB
13	neomycin32	9.9	GUSB, GBA, EPO, HBB
14	mannose 6-phosphate32 18	10.9	GBA, GUSB, GPI, PMM2, NEU1
15	thiamine32 9 18 9	12.8	GUSB, EPO, SLC17A5, TALDO1
16	midodrine32 9 9	11.7	ALB, EPO
17	zidovudine32 9 9	11.7	GUSB, ALB, EPO, NEU1, SLC17A5
18	starch32	9.7	GUSB, GPI, GBE1, G6PD
19	fructose-1,6-bisphosphate32	9.7	G6PD, TALDO1, GPI
20	Heme9 18 9	11.6	HBA1, UROS, HBB, HBE1, HBZ, ALB
21	isoniazid32 34 9 9	12.6	G6PD, NEU1, SLC17A5
22	glucose32	9.6	GPI, TALDO1, SPTB, RHD
23	mefloquine32 9 9	11.5	RHD, G6PD, HBA1
24	cellulose acetate32	9.5	HBA2, G6PD, ALB, GPI, NEU1
25	phenylhydrazine32	9.5	RHD, EPO
26	polyacrylamide32	9.5	GPI, RHD, HBB, NEU1, SLC17A5
27	6-phosphogluconate32	9.4	G6PD, GPI, TALDO1
28	eprex32	9.4	ALB, EPO
29	zinc protoporphyrin32	9.3	SLC17A5, EPO, G6PD
30	glutaraldehyde32	9.3	SPTB, ALB, G6PD, NEU1
31	23-diphosphoglycerate32	9.2	HBA2, HBB, EPO, G6PD
32	polyethylene glycol32	9.2	G6PD, SLC17A5, NEU1, ALB
33	ribavirin32 34 9 9	12.2	G6PD, NEU1, SLC17A5, EPO
34	pyruvate32	9.2	SLC17A5, GBA, TALDO1, GPI, G6PD
35	glucose 6-phosphate32 18	10.1	GPI, G6PD, TALDO1, HBB
36	vitamin b1232	9.1	ALB, GUSB, G6PD, SLC17A5, EPO
37	methotrexate32 34 42 9 9	13.0	EPO, SLC17A5, ALB, CGA, GBA
38	iron32 18	9.8	SLC17A5, EPO, ALB, HBB, HBA2, HBA1
39	dmso32	8.8	CGA, NEU1, SLC17A5, HBB, G6PD
40	glyceraldehyde 3-phosphate32	8.7	GPI, TALDO1, G6PD, HBB, RHD, SPTB
41	folate32	8.5	EPO, SLC17A5, ALB, CGA, G6PD
42	mannitol32 9 9	10.5	TALDO1, G6PD, SPTB, ALB, GUSB, CGA
43	adenylate32	8.3	GPI, HBB, HBA2, CGA, G6PD, RHD
44	creatinine32	8.3	SLC17A5, GPI, ALB, GUSB, G6PD, CGA
45	ascorbic acid32 18	9.3	EPO, SLC17A5, TALDO1, G6PD, CGA, ALB
46	h2o232	8.1	CGA, RHD, HBB, TALDO1, SLC17A5, G6PD
47	aspartate32	7.7	EPO, SLC17A5, HBB, RHD, ALB, GUSB
48	lactate32	7.5	HBB, TALDO1, ALB, CGA, BLMH, GPI
49	oxygen32 18	8.4	HBB, TALDO1, SPTB, FLT4, PTPN11, GBA
50	serine32	7.2	NEU1, PRF1, GBA, HBB, G6PD, RHD

Cellular components related to hydrops fetalis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	haptoglobin-hemoglobin complex	GO:031838	10.0	HBB, HBA2
2	lysosomal lumen	GO:043202	10.0	NEU1, GPC3, GUSB, GBA
3	spectrin-associated cytoskeleton	GO:014731	9.7	SPTB, SPTA1
4	hemoglobin complex	GO:005833	9.7	HBA2, HBZ, HBE1, HBB
5	intrinsic to internal side of plasma membrane	GO:031235	9.4	SPTB, SPTA1
6	cytosol	GO:005829	6.6	HBB, UROS, GPI, PTPN11, BLMH, SPTA1

Biological processes related to hydrops fetalis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	porphyrin-containing compound biosynthetic process	GO:006779	9.7	SPTA1, SPTB
2	glucose 6-phosphate metabolic process	GO:051156	9.2	GPI, G6PD
3	erythrocyte maturation	GO:043249	8.8	EPO, G6PD, HBZ
4	carbohydrate metabolic process	GO:005975	8.7	GUSB, GBA, GPI, GPC3, G6PD, TALDO1
5	small molecule metabolic process	GO:044281	7.3	CGA, GUSB, GPI, GPC3, ALB, G6PD

Molecular functions related to hydrops fetalis according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	haptoglobin binding	GO:031720	10.2	HBA2, HBB
2	cation binding	GO:043169	10.1	GBA, GBE1, GUSB
3	monosaccharide binding	GO:048029	9.8	GPI, TALDO1
4	oxygen transporter activity	GO:005344	9.7	HBA2, HBB, HBE1, HBZ
5	iron ion binding	GO:005506	9.6	HBA2, HBB, HBZ, HBE1
6	oxygen binding	GO:019825	9.5	HBZ, HBE1, HBB, HBA2, ALB
7	heme binding	GO:020037	9.5	HBA2, HBB, HBZ, HBE1