MCID: HYD012
MIFTS: 53

Hydrops Fetalis malady

Categories: Genetic diseases, Rare diseases, Fetal diseases, Immune diseases

Aliases & Classifications for Hydrops Fetalis

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Sources:
45NIH Rare Diseases, 47Novoseek, 51Orphanet, 65UMLS, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 27ICD10
See all MalaCards sources

Aliases & Descriptions for Hydrops Fetalis:

Name: Hydrops Fetalis 45 47 51 65
Familial Non-Immune Hydrops Fetalis 45
Hydrops Fetalis, Non-Immune 65
Idiopathic Hydrops Fetalis 45
Hydrops Fetalis, Nonimmune 47
 
Hydrops Fetalis Nonimmune 45
Generalized Fetal Edema 51
Fetal Anasarca 51
Fetal Hydrops 51
Hf 51

Characteristics:

Orphanet epidemiological data:

51
hydrops fetalis:
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth

Classifications:



External Ids:

Orphanet51 1041
MESH via Orphanet37 D015160
UMLS via Orphanet66 C0020305
ICD10 via Orphanet28 P56.0, P56.9, P83.2
ICD1027 P56, P56.0, P56.9
UMLS65 C0020305, C0455988

Summaries for Hydrops Fetalis

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NIH Rare Diseases:45 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 immune hydrops fetalis and hydrops fetalis anemia immune disorder absent thumb, and has symptoms including abnormality of the heme biosynthetic pathway, anemia and hydrops fetalis. An important gene associated with Hydrops Fetalis is NEU1 (Neuraminidase 1 (Lysosomal Sialidase)), and among its related pathways are Lysosome and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include heart, lung and bone.

Wikipedia:68 Hydrops fetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at... more...

Related Diseases for Hydrops Fetalis

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Diseases related to Hydrops Fetalis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1immune hydrops fetalis31.2GBE1, GUSB, HBA1, HBA2, NEU1
2hydrops fetalis anemia immune disorder absent thumb30.2GBE1, GPI, GUSB, HBA1, HBA2, NEU1
3hemoglobin h disease, nondeletional30.0HBA1, HBA2
4hemophagocytic lymphohistiocytosis29.8GPI, HBA2
5non-immune hydrops fetalis12.5
6hb bart's hydrops fetalis12.4
7fetal edema11.5
8hyaline fibromatosis syndrome11.3
9semmekrot haraldsson weemaes syndrome11.2
10mucopolysaccharidosis vii10.8
11pyruvate kinase deficiency10.7
12thalassemia10.5
13chorioangioma10.4
14teratoma10.4
15mucopolysaccharidosis10.3
16greenberg skeletal dysplasia10.3
17hepatitis10.3
18lysosomal storage disease10.3
19down syndrome10.2
20syphilis10.2
21congenital pulmonary lymphangiectasia10.2
22pulmonary sequestration10.2
23diamond-blackfan anemia10.1
24lymphedema10.1
25mediastinitis10.1
26congenital syphilis10.1
27cardiomyopathy10.1
28mental retardation, autosomal recessive 4310.1GUSB, NEU1
29mood disorder10.1GUSB, NEU1
30gaucher disease, perinatal lethal10.1
31chondrodysplasia, blomstrand type10.1
32porphyria, congenital erythropoietic10.1
33achondrogenesis, type ii or hypochondrogenesis10.1
34thalassemias, alpha-10.1
35hypochondrogenesis10.1
36beemer-langer syndrome10.1
37fetal parvovirus syndrome10.1
38congenital heart block10.1
39sacrococcygeal teratoma10.1
40endocardial fibroelastosis10.1
41congenital dyserythropoietic anemia10.1
42hemoglobinopathy10.1
43cerebritis10.1
44polyhydramnios10.1
45herpes simplex10.1
46cytomegalovirus infection10.1
47tetralogy of fallot10.0
48galactosialidosis10.0
49hemochromatosis10.0
50hemangioma10.0

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



Diseases related to hydrops fetalis

Symptoms for Hydrops Fetalis

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Symptoms:

 51
  • hydrops fetalis

HPO human phenotypes related to Hydrops Fetalis:

(show all 15)
id Description Frequency HPO Source Accession
1 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
2 anemia hallmark (90%) HP:0001903
3 hydrops fetalis hallmark (90%) HP:0001789
4 congestive heart failure hallmark (90%) HP:0001635
5 pallor hallmark (90%) HP:0000980
6 toxemia of pregnancy typical (50%) HP:0100603
7 hepatomegaly typical (50%) HP:0002240
8 splenomegaly typical (50%) HP:0001744
9 oligohydramnios typical (50%) HP:0001562
10 polyhydramnios typical (50%) HP:0001561
11 hydrocephalus typical (50%) HP:0000238
12 abnormality of the pericardium occasional (7.5%) HP:0001697
13 anemia HP:0001903
14 hydrops fetalis HP:0001789
15 congestive heart failure HP:0001635

UMLS symptoms related to Hydrops Fetalis:


fetal bradycardia, fetal tachycardia, joint swelling

Drugs & Therapeutics for Hydrops Fetalis

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Drugs for Hydrops Fetalis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BetamethasoneapprovedPhase 1, Phase 2153378-44-99782
Synonyms:
.beta.-Methasone
.beta.-Methasone alcohol
1,4-Pregnadiene-3,20-dione-9alpha-fluoro-16 beta-methyl-11 beta,17alpha,21-triol
16beta-Methyl-1,4-pregnadiene-9alpha-fluoro-11beta,17alpha,21-triol-3,20-dione
16β-Methyl-1,4-pregnadiene-9α-fluoro-11β,17α,21-triol-3,20-dione
24024-03-1
34166_FLUKA
34166_RIEDEL
378-44-9
4-08-00-03501 (Beilstein Handbook Reference)
9-Fluoro-11,17,21-trihydroxy-16-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11-beta,17,21-trihydroxy-16-beta-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11.beta.,17,21-trihydroxy-16.beta.-methylpregna-1,4-diene-3,20-dione
9-Fluoro-11beta,17,21-trihydroxy-16beta-methylpregna-1,4-diene-3,20-dione
9-Fluoro-16.beta.-methylprednisolone
9-Fluoro-16beta-methylprednisolone
9-Fluoro-16β-methylprednisolone
9-alpha-Fluoro-16-beta-methylprednisolone
9.alpha.-Fluoro-16.beta.-methylprednisolone
9alpha-Fluoro-16 beta-methyl-prednisolone
9alpha-Fluoro-16beta-methylprednisolone
9α-Fluoro-16β-methylprednisolone
AC1L1EYE
AC1L1TT4
AC1Q5HJZ
AKOS001582690
AR-1A7284
AR-1H5595
B1837
B7005_SIAL
B7005_SIGMA
B9675_SIAL
BIDD:PXR0047
BPBio1_000533
BRD-A35108200-001-04-7
BRD-K39188321-001-03-9
BRN 3176546
BSPBio_000483
Bebate
Becort
Bedifos
Betacorlan
Betacortril
Betadexamethasone
Betafluorene
Betamamallet
Betametasona
Betametasona [INN-Spanish]
Betametasone
Betametasone [DCIT]
Betamethasone
Betamethasone (JP15/USP/INN)
Betamethasone Base
Betamethasone Dipropionate
Betamethasone Valearate
Betamethasone Valerate
Betamethasone [USAN:BAN:INN:JAN]
Betamethasone [USAN:INN:BAN:JAN]
Betamethasone alcohol
Betamethasone cream
Betamethasone dipropionate
Betamethasone sodium phosphate
Betamethasone valerate
Betamethasonum
Betamethasonum [INN-Latin]
Betamethasonvalerat Mikron
Betamethazone
Betapredol
 
Betasolon
Betnelan
Betsolan
C22H29FO5
CHEBI:3077
CHEMBL632
CID3003
CID9782
CPD000339803
Celestene
Celeston
Celestona
Celestone
Celestone Syrup and Tablets
Celestone, Betadexamethasone, Flubenisolone, Sch-4831, NCS-39470, Betamethasone
Cellestoderm
Cidoten
D00244
D1961
DB00443
Desacort-Beta
Diprolene
EINECS 206-825-4
Flubenisolone
HMS1569I05
HSDB 3015
Hormezon
I06-0121
KST-1A3042
LS-118466
LT00441022
Luxiq
Luxiqo
MLS-0310139.0001
MLS000686794
MLS000859943
MLS001066413
MLS001332616
MLS002153244
Methazon
MolPort-003-845-025
MolPort-007-981-051
NCGC00164401-01
NCGC00164401-02
NSC 39470
NSC-39470
NSC39470
Prestwick0_000362
Prestwick1_000362
Prestwick2_000362
Prestwick3_000362
Prestwick_703
Rinderon
Rinderon (TN)
Rinderon A
S1500_Selleck
SAM002589959
SCH 4831
SCH-4831
SMP1_000043
SMR000058601
SMR000339803
SPBio_002404
UNII-9842X06Q6M
Valisone
Visubeta
ZINC03876136
beta-Methasone
beta-Methasone alcohol
betamethasone
2Hormone AntagonistsPhase 1, Phase 210002
3HormonesPhase 1, Phase 211748
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 29988
5glucocorticoidsPhase 1, Phase 23896
6Respiratory System AgentsPhase 1, Phase 23931
7Betamethasone ValeratePhase 1, Phase 21532152-44-5
8Anti-Inflammatory AgentsPhase 1, Phase 28478
9Betamethasone benzoatePhase 1, Phase 2153
10Betamethasone sodium phosphatePhase 1, Phase 2153
11Anti-Asthmatic AgentsPhase 1, Phase 22796
12Betamethasone-17,21-dipropionatePhase 1, Phase 2153

Interventional clinical trials:

idNameStatusNCT IDPhase
1Prenatal Steroids for Treatment of Congenital Cystic Adenomatoid Malformations (CCAM)TerminatedNCT00670956Phase 1, Phase 2
2Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGRTerminatedNCT00143039Phase 1

Search NIH Clinical Center for Hydrops Fetalis

Genetic Tests for Hydrops Fetalis

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Anatomical Context for Hydrops Fetalis

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MalaCards organs/tissues related to Hydrops Fetalis:

33
Heart, Lung, Bone, Thyroid, Prostate, Breast, Pituitary

Animal Models for Hydrops Fetalis or affiliated genes

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MGI Mouse Phenotypes related to Hydrops Fetalis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Hydrops Fetalis

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Articles related to Hydrops Fetalis:

(show top 50)    (show all 549)
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. (23430797)
2013
6
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
7
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
8
Adrenal cytomegaly is a frequent pathologic finding in hemoglobin bart hydrops fetalis. (22257311)
2012
9
Antenatal closure of the ductus arteriosus and hydrops fetalis. (21985268)
2011
10
Short-term and long-term outcomes of 214 cases of non-immune hydrops fetalis. (21592689)
2011
11
Hydrops fetalis associated with homozygosity for Hb Adana [alpha59(E8)Gly-->Asp (alpha2)]. (20642338)
2010
12
Acute non-immune hydrops fetalis caused by intrauterine echovirus infection. (22791477)
2010
13
Venous Doppler studies in low-output and high-output hydrops fetalis. (20684946)
2010
14
Was alpha-thalassemia searched as a cause of non-immune "hydrops fetalis?". (21428207)
2010
15
Transient abnormal myelopoiesis associated with Down syndrome presenting as severe hydrops fetalis: a case report. (20160425)
2010
16
Hydrops fetalis associated with chorioangioma and thrombosis of umbilical vein. (20112613)
2009
17
Atrial hemangioma: a rare cause of hydrops fetalis and intrauterine fetal death. (16621228)
2007
18
Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis. (17431907)
2007
19
Nonimmune hydrops fetalis diagnosed during the second half of pregnancy in Southern China. (17361085)
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
Hydrops fetalis and neonatal leukemia in Down syndrome. (8718505)
1996
37
A case of hydrops fetalis, probably due to antibodies directed against antigenic determinants of GP.Mur (Miltenberger class III) cells. (15387736)
1996
38
Hematologic disorders and nonimmune hydrops fetalis. (8822334)
1995
39
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
40
Cardiac abnormalities associated with hydrops fetalis. (8822332)
1995
41
Four cases of absent ductus venosus: three in combination with severe hydrops fetalis. (7880437)
1994
42
Antenatal diagnosis and outcome in hydrops fetalis. (8487153)
1993
43
DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis. (8140064)
1993
44
Genetic causes of hydrops fetalis. (1728027)
1992
45
Hydrops fetalis associated with congenital myotonic dystrophy. (1550167)
1992
46
Nonimmune hydrops fetalis associated with maternal infection with syphilis. (1442955)
1992
47
Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis. (1632450)
1992
48
Antenatal classification of hydrops fetalis. (1731295)
1992
49
Intrauterine transfusion treatment of nonimmune hydrops fetalis secondary to human parvovirus B19 infection. (1849704)
1991
50
Nonimmune hydrops fetalis associated with genetic abnormalities. (2406672)
1990

Variations for Hydrops Fetalis

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Clinvar genetic disease variations for Hydrops Fetalis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NEU1NM_000434.3(NEU1): c.353-2A> Gsingle nucleotide variantPathogenicrs864309513GRCh37Chr 6, 31829229: 31829229
2NEU1NM_000434.3(NEU1): c.1170C> G (p.Tyr390Ter)single nucleotide variantPathogenicrs746607723GRCh38Chr 6, 31859797: 31859797
3GUSBNM_000181.3(GUSB): c.1144C> T (p.Arg382Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121918173GRCh37Chr 7, 65439613: 65439613
4GUSBNM_000181.3(GUSB): c.1069C> T (p.Arg357Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121918185GRCh37Chr 7, 65439688: 65439688

Expression for genes affiliated with Hydrops Fetalis

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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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.6GUSB, NEU1
2
Show member pathways
9.3HBA1, HBA2
39.3HBA1, HBA2
4
Show member pathways
9.3HBA1, HBA2
59.3HBA1, HBA2
6
Show member pathways
9.3HBA1, HBA2
7
Show member pathways
8.7GBE1, GPI, GUSB
8
Show member pathways
8.7GBE1, GPI, GUSB
9
Show member pathways
7.1GBE1, GPI, GUSB, HBA1, HBA2, NEU1

GO Terms for genes affiliated with Hydrops Fetalis

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Cellular components related to Hydrops Fetalis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:00318389.4HBA1, HBA2
2cytosolic small ribosomal subunitGO:00226279.3HBA1, HBA2

Biological processes related to Hydrops Fetalis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor-mediated endocytosisGO:00068989.3HBA1, HBA2
2protein heterooligomerizationGO:00512919.2HBA1, HBA2

Molecular functions related to Hydrops Fetalis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin bindingGO:00317209.5HBA1, HBA2
2peroxidase activityGO:00046019.3HBA1, HBA2
3oxygen transporter activityGO:00053449.0HBA1, HBA2

Sources for Hydrops Fetalis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet