HF
MCID: HYD012
MIFTS: 61

Hydrops Fetalis (HF) malady

Genetic diseases, Rare diseases, Fetal diseases, Immune diseases categories

Summaries for Hydrops Fetalis

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NIH Rare Diseases:42 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. last updated: 1/25/2012

MalaCards based summary: Hydrops Fetalis, also known as familial non-immune hydrops fetalis, is related to lysosomal storage disease and hepatitis, and has symptoms including hydrops fetalisand hydrops fetalis. An important gene associated with Hydrops Fetalis is GPI (glucose-6-phosphate isomerase), and among its related pathways are Glucuronidation and Lysosome. The compounds starch and 4-methylumbelliferone have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and placenta, and related mouse phenotypes are liver/biliary system and integument.

Wikipedia:64 Hydrops fetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at... more...

Description from OMIM:46 236750

Aliases & Classifications for Hydrops Fetalis

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Sources:
42NIH Rare Diseases, 23GTR, 44Novoseek, 48Orphanet, 46OMIM, 61UMLS, 27ICD10 via Orphanet, 62UMLS via Orphanet, 35MESH via Orphanet, 26ICD10
See all sources

Hydrops Fetalis, Aliases & Descriptions:

Name: Hydrops Fetalis 42 23 44 48 46 61
Familial Non-Immune Hydrops Fetalis 42 61
Fetal Hydrops 48 61
Hydrops Fetalis, Non-Immune 61
Idiopathic Hydrops Fetalis 42
 
Hydrops Fetalis, Nonimmune 44
Hydrops Fetalis Nonimmune 42
Generalized Fetal Edema 48
Fetal Anasarca 48
Hf 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Immune diseases


Characteristics (Orphanet epidemiological data):

48
hydrops fetalis:
Inheritance: Sporadic; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

ICD10 via Orphanet27 P56.0, P56.9, P83.2
UMLS via Orphanet62 C0020305
OMIM46 236750
MESH via Orphanet35 D015160
ICD1026 P56, P56.0, P56.9

Related Diseases for Hydrops Fetalis

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Graphical network of the top 20 diseases related to Hydrops Fetalis:



Diseases related to hydrops fetalis

Symptoms for Hydrops Fetalis

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Clinical features from OMIM:

236750

Symptoms:

 48
  • hydrops fetalis

HPO human phenotypes related to Hydrops Fetalis:

id Description Frequency HPO Source Accession
1 hydrops fetalis hallmark (90%) HP:0001789

Drugs & Therapeutics for Hydrops Fetalis

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Drug clinical trials:

Search ClinicalTrials for Hydrops Fetalis

Search NIH Clinical Center for Hydrops Fetalis

Genetic Tests for Hydrops Fetalis

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Genetic tests related to Hydrops Fetalis:

id Genetic test Affiliating Genes
1 Hydrops Fetalis23

Anatomical Context for Hydrops Fetalis

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MalaCards organs/tissues related to Hydrops Fetalis:

32
Heart, Lung, Placenta, Brain, Bone, Testes, Bone marrow, Kidney, Pancreas, Adrenal gland, Endothelial, Cardiac myocytes, Pituitary

Animal Models for Hydrops Fetalis or affiliated genes

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MGI Mouse Phenotypes related to Hydrops Fetalis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1ALB, CCBE1, NEU1, GPI
2MP:00107718.1CCBE1, NEU1, HBA2, GUSB
3MP:00053977.6GPI, GUSB, HBA2, NEU1, CCBE1
4MP:00053767.2ALB, CCBE1, NEU1, HBA2, GUSB, GPI
5MP:00053847.2GUSB, HBA2, NEU1, CCBE1, ALB
6MP:00107687.2GPI, GUSB, HBA2, NEU1, CCBE1, ALB

Publications for Hydrops Fetalis

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Articles related to Hydrops Fetalis:

(show top 50)    (show all 517)
idTitleAuthorsYear
1
Staged pacemaker implantation in a preterm with hydrops fetalis due to complete heart block. (23626451)
2013
2
Reply-nonimmune hydrops fetalis and lysosomal storage diseases. (24120156)
2013
3
Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis. (23597521)
2013
4
Non-immune hydrops fetalis: A prospective study of 53 cases. (24039125)
2013
5
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease: Response to letter "Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birth" by J. Finsterer and Claudia StAPllberger, DOI 10.1007/s10545-013-9612-4. (23974651)
2013
6
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. (23137060)
2012
7
Adrenal cytomegaly is a frequent pathologic finding in hemoglobin bart hydrops fetalis. (22257311)
2012
8
Antenatal closure of the ductus arteriosus and hydrops fetalis. (21985268)
2011
9
Short-term and long-term outcomes of 214 cases of non-immune hydrops fetalis. (21592689)
2011
10
Hydrops fetalis associated with homozygosity for Hb Adana [alpha59(E8)Gly-->Asp (alpha2)]. (20642338)
2010
11
Acute non-immune hydrops fetalis caused by intrauterine echovirus infection. (22791477)
2010
12
Venous Doppler studies in low-output and high-output hydrops fetalis. (20684946)
2010
13
Was alpha-thalassemia searched as a cause of non-immune "hydrops fetalis?". (21428207)
2010
14
Transient abnormal myelopoiesis associated with Down syndrome presenting as severe hydrops fetalis: a case report. (20160425)
2010
15
Hydrops fetalis associated with chorioangioma and thrombosis of umbilical vein. (20112613)
2009
16
Atrial hemangioma: a rare cause of hydrops fetalis and intrauterine fetal death. (16621228)
2007
17
Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis. (17431907)
2007
18
Nonimmune hydrops fetalis diagnosed during the second half of pregnancy in Southern China. (17361085)
2007
19
Microsatellite markers within --SEA breakpoints for prenatal diagnosis of HbBarts hydrops fetalis. (17158194)
2007
20
Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis. (16865740)
2006
21
Severity of non-immune hydrops fetalis at birth continues to predict survival despite advances in perinatal care. (16757915)
2006
22
Hemoglobin H hydrops fetalis syndrome resulting from the association of the - -SEA deletion and the alphaQuong Szealpha mutation in a Chinese woman. (16104884)
2005
23
Sonographic features of Ebstein anomaly associated with hydrops fetalis: a report of two cases. (15756659)
2005
24
Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (16339648)
2005
25
A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. (15211660)
2004
26
Hydrops fetalis and extralobar lung sequestration. (11976473)
2002
27
Value of autopsy in nonimmune hydrops fetalis: series of 51 stillborn fetuses. (12016530)
2002
28
Pathogenesis of nonimmune hydrops fetalis caused by intrauterine B19 infection. (10770616)
2000
29
Investigation of nonimmune hydrops fetalis: multidisciplinary studies are necessary for diagnosis--review of 94 cases. (10441620)
1999
30
Nonimmune hydrops fetalis. (10818859)
1999
31
Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. (9516118)
1998
32
Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. (9667408)
1998
33
Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. (9762608)
1998
34
Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. (9155679)
1997
35
Second-trimester hydrops fetalis in pregnancies affected by homozygous alpha-thalassaemia-1. (9110371)
1997
36
A case of hydrops fetalis, probably due to antibodies directed against antigenic determinants of GP.Mur (Miltenberger class III) cells. (15387736)
1996
37
Hematologic disorders and nonimmune hydrops fetalis. (8822334)
1995
38
Agenesis of the ductus venosus and its correlation to hydrops fetalis and the fetal hepatic circulation: case reports and review of the literature. (8736596)
1995
39
Cardiac abnormalities associated with hydrops fetalis. (8822332)
1995
40
Four cases of absent ductus venosus: three in combination with severe hydrops fetalis. (7880437)
1994
41
Antenatal diagnosis and outcome in hydrops fetalis. (8487153)
1993
42
DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis. (8140064)
1993
43
Genetic causes of hydrops fetalis. (1728027)
1992
44
Hydrops fetalis associated with congenital myotonic dystrophy. (1550167)
1992
45
Nonimmune hydrops fetalis associated with maternal infection with syphilis. (1442955)
1992
46
Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis. (1632450)
1992
47
Antenatal classification of hydrops fetalis. (1731295)
1992
48
Intrauterine transfusion treatment of nonimmune hydrops fetalis secondary to human parvovirus B19 infection. (1849704)
1991
49
Clinico-pathological findings in non-immune hydrops fetalis. (1817125)
1991
50
Nonimmune hydrops fetalis associated with genetic abnormalities. (2406672)
1990

Variations for Hydrops Fetalis

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Expression for genes affiliated with Hydrops Fetalis

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Expression patterns in normal tissues for genes affiliated with Hydrops Fetalis

Search GEO for disease gene expression data for Hydrops Fetalis.

Pathways for genes affiliated with Hydrops Fetalis

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Pathways related to Hydrops Fetalis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6GPI, GUSB
29.5GUSB, NEU1
3
Show member pathways
thioredoxin pathway37
9.3ALB, HBA2
4
Show member pathways
9.3ALB, HBA2
5
Show member pathways
7.9ALB, GPI, GUSB, HBA2, NEU1

Compounds for genes affiliated with Hydrops Fetalis

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Compounds related to Hydrops Fetalis according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1starch449.9GUSB, GPI
24-methylumbelliferone449.9NEU1, GUSB
3ketoprofen29 44 1211.9ALB, GUSB
4antipyrine44 1210.8GUSB, ALB
5amitriptyline44 29 50 1212.8GUSB, ALB
6furosemide44 60 29 50 25 1214.8ALB, GUSB
7glutaraldehyde449.8ALB, NEU1
8chlorpromazine29 44 50 1212.7NEU1, ALB
9vitamin b12449.7ALB, GUSB
10daunorubicin44 50 1211.7NEU1, GUSB
11dextran sulfate449.7ALB, NEU1
12irinotecan44 50 1211.7GUSB, ALB
13tetracycline44 1210.6GUSB, ALB
14sulfate44 2510.6GPI, GUSB
15mannitol44 1210.6ALB, GUSB
16polyethylene glycol449.5ALB, NEU1
17mannose 6-phosphate44 2510.5GPI, GUSB, NEU1
18hyaluronic acid44 2510.4ALB, NEU1
19citrate449.4ALB, GUSB
20lactate449.4ALB, GUSB, GPI
21creatinine449.4ALB, GUSB, GPI
22aspartate449.4GPI, GUSB, ALB
23zidovudine44 50 1211.3ALB, NEU1, GUSB
24histamine44 29 2511.3ALB, NEU1, GUSB
25agarose449.2NEU1, GPI
26heparin44 29 25 1212.2GUSB, NEU1, ALB
27cellulose acetate448.8ALB, NEU1, HBA2, GPI

GO Terms for genes affiliated with Hydrops Fetalis

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Cellular components related to Hydrops Fetalis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725629.3ALB, HBA2
2lysosomal lumenGO:0432029.2NEU1, GUSB
3extracellular vesicular exosomeGO:0700627.8ALB, NEU1, HBA2, GUSB, GPI

Biological processes related to Hydrops Fetalis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small molecule metabolic processGO:0442817.9ALB, NEU1, HBA2, GUSB, GPI

Molecular functions related to Hydrops Fetalis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1oxygen bindingGO:0198259.3ALB, HBA2

Products for genes affiliated with Hydrops Fetalis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hydrops Fetalis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet