MCID: HYD012
MIFTS: 43

Hydrops Fetalis

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

Aliases & Classifications for Hydrops Fetalis

MalaCards integrated aliases for Hydrops Fetalis:

Name: Hydrops Fetalis 50 29 52 69
Familial Non-Immune Hydrops Fetalis 50
Hydrops Fetalis, Non-Immune 69
Idiopathic Hydrops Fetalis 50
Hydrops Fetalis Nonimmune 50
Nonimmune Hydrops Fetalis 29

Classifications:



External Ids:

ICD10 33 P56 P56.0 P56.9
SNOMED-CT via HPO 65 276508000

Summaries for Hydrops Fetalis

NIH Rare Diseases : 50 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 hepatitis and hydrops fetalis, nonimmune, and has symptoms including edema and joint swelling. An important gene associated with Hydrops Fetalis is EPHB4 (EPH Receptor B4), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Galactose metabolism. The drugs Darbepoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and placenta.

Wikipedia : 72 Hydrops fetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at... more...

Related Diseases for Hydrops Fetalis

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

(show top 50) (show all 136)
id Related Disease Score Top Affiliating Genes
1 hepatitis 30.0 GPI PIEZO1
2 hydrops fetalis, nonimmune 12.6
3 hydrops fetalis, nonimmune, and/or atrial septal defect 12.4
4 immune hydrops fetalis 12.3
5 hydrops fetalis anemia immune disorder absent thumb 12.0
6 mucopolysaccharidosis vii 11.4
7 congenital dyserythropoietic anemia 11.3
8 pyruvate kinase deficiency 11.3
9 transaldolase deficiency 11.3
10 chondrodysplasia, blomstrand type 11.1
11 achondrogenesis, type ii or hypochondrogenesis 11.1
12 hemoglobin h disease, nondeletional 11.1
13 lymphedema, hereditary, iii 11.1
14 semmekrot haraldsson weemaes syndrome 11.1
15 gaucher disease, perinatal lethal 11.0
16 greenberg skeletal dysplasia 11.0
17 megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 11.0
18 porphyria, congenital erythropoietic 11.0
19 thalassemias, alpha- 11.0
20 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 11.0
21 lymphangiectasia, pulmonary, congenital 11.0
22 pyknoachondrogenesis 11.0
23 short-rib thoracic dysplasia 12 11.0
24 hypochondrogenesis 11.0
25 fetal parvovirus syndrome 11.0
26 thalassemia 10.4
27 chorioangioma 10.3
28 teratoma 10.2
29 lysosomal storage disease 10.1
30 down syndrome 10.1
31 hemophagocytic lymphohistiocytosis 10.1
32 syphilis 10.1
33 pulmonary sequestration 10.1
34 diamond-blackfan anemia 10.0
35 lymphedema 10.0
36 cerebritis 10.0
37 mediastinitis 10.0
38 congenital syphilis 10.0
39 cardiomyopathy 10.0
40 endocardial fibroelastosis 10.0
41 sacrococcygeal teratoma 10.0
42 thrombosis 10.0
43 hemoglobinopathy 10.0
44 polyhydramnios 10.0
45 herpes simplex 10.0
46 cytomegalovirus infection 10.0
47 hypoxia 10.0
48 tetralogy of fallot 9.9
49 galactosialidosis 9.9
50 hemochromatosis 9.9

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



Diseases related to Hydrops Fetalis

Symptoms & Phenotypes for Hydrops Fetalis

Human phenotypes related to Hydrops Fetalis:

32
id Description HPO Frequency HPO Source Accession
1 hydrops fetalis 32 hallmark (90%) HP:0001789

UMLS symptoms related to Hydrops Fetalis:


edema, joint swelling

Drugs & Therapeutics for Hydrops Fetalis

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
2 Hematinics Phase 2, Phase 3
3
Betamethasone Approved, Vet_approved Phase 1, Phase 2 378-44-9 9782
4 Anti-Asthmatic Agents Phase 1, Phase 2
5 Anti-Inflammatory Agents Phase 1, Phase 2
6 Betamethasone benzoate Phase 1, Phase 2
7 Betamethasone sodium phosphate Phase 1, Phase 2
8 Betamethasone Valerate Phase 1, Phase 2 2152-44-5
9 Betamethasone-17,21-dipropionate Phase 1, Phase 2
10 glucocorticoids Phase 1, Phase 2
11 Hormone Antagonists Phase 1, Phase 2
12 Hormones Phase 1, Phase 2
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
14 Respiratory System Agents Phase 1, Phase 2
15
Menthol Approved Phase 1 2216-51-5 16666

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 EPO-4-Rhesus: Role of Darbepoetin Alfa in Reducing Late Anaemia in Neonates With Red Blood Cell Alloimmunization After Intrauterine Transfusions Not yet recruiting NCT03104426 Phase 2, Phase 3 Darbepoetin Alfa
2 Prenatal Steroids for Treatment of Congenital Cystic Adenomatoid Malformations (CCAM) Terminated NCT00670956 Phase 1, Phase 2 Betamethasone;Placebo
3 In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM) Recruiting NCT02986698 Phase 1
4 Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR Terminated NCT00143039 Phase 1
5 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Not yet recruiting NCT02956564

Search NIH Clinical Center for Hydrops Fetalis

Genetic Tests for Hydrops Fetalis

Genetic tests related to Hydrops Fetalis:

id Genetic test Affiliating Genes
1 Hydrops Fetalis 29
2 Nonimmune Hydrops Fetalis 29

Anatomical Context for Hydrops Fetalis

MalaCards organs/tissues related to Hydrops Fetalis:

39
Heart, Lung, Placenta, Brain, Bone, Testes, Endothelial

Publications for Hydrops Fetalis

Articles related to Hydrops Fetalis:

(show top 50) (show all 577)
id Title Authors Year
1
An international registry of survivors with Hb Bart's Hydrops Fetalis Syndrome. ( 28057638 )
2017
2
Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China. ( 28611934 )
2017
3
Pulmonary Neuroendocrine Cell Hyperplasia in Hemoglobin Bart-induced Hydrops Fetalis: A model for Chronic Intrauterine Hypoxia. ( 28727978 )
2017
4
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. ( 28180938 )
2017
5
Outcome and Treatment of Antenatally Diagnosed Nonimmune Hydrops Fetalis. ( 28647738 )
2017
6
Cardiac Etiologies of Hydrops Fetalis. ( 28561210 )
2017
7
Preservative Monitoring of a Greek Woman with Hydrops Fetalis due to Parvovirus B19 Infection. ( 28785496 )
2017
8
Alpha-Thalassemia Major and Restrictive Foramen Ovale in a Preterm Neonate Without Severe Hydrops Fetalis. ( 28381365 )
2017
9
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis. ( 28603204 )
2017
10
Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis-Insights from a Population-Based Dataset. ( 28533037 )
2017
11
Prognostic factors of hydrops fetalis with pleural effusion. ( 28672054 )
2017
12
Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. ( 28174644 )
2017
13
Fetal Thoracoamniotic Shunting in a Case of Congenital Pulmonary Airway Malformations with Hydrops Fetalis. ( 28948063 )
2017
14
Resuscitation with Intact Placental Circulation in a Preterm Infant with Hydrops Fetalis. ( 28367357 )
2017
15
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. ( 28822227 )
2017
16
Genetic origin of I+(0)-thalassemia (SEA deletion) in Southeast Asian populations and application to accurate prenatal diagnosis of Hb Bart's hydrops fetalis syndrome. ( 28381876 )
2017
17
Fetal hemoglobin Bart's hydrops fetalis: pathophysiology, prenatal diagnosis and possibility of intrauterine treatment. ( 28277912 )
2017
18
Kaposiform Hemangioendothelioma Presenting as Hydrops Fetalis. ( 28318049 )
2017
19
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. ( 27400125 )
2016
20
Optimizing chronic transfusion therapy for survivors of hemoglobin Barts hydrops fetalis. ( 26732098 )
2016
21
Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise. ( 26914330 )
2016
22
An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for KrA1ppel-like Factor 1 mutations. ( 28361594 )
2016
23
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. ( 27416089 )
2016
24
Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178Ga88>a88C) and the Southeast Asian (- -(SEA)/) Deletion. ( 27686733 )
2016
25
Cerebral Venous Engorgement in Hydrops Fetalis. ( 27403227 )
2016
26
Congenital Chylothorax: A Unique Presentation of Nonimmune Hydrops Fetalis in a Preterm Infant. ( 26945279 )
2016
27
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience. ( 27928775 )
2016
28
Chylous Ascites in a Neonate with Hydrops Fetalis. ( 27670562 )
2016
29
Hemoglobin Bart hydrops fetalis: A model for studying vascular changes in placental hypoxia. ( 27452444 )
2016
30
Pulmonary neuroendocrine cell hyperplasia in hemoglobin Bart-induced hydrops fetalis: A model for chronic intrauterine hypoxia. ( 27598399 )
2016
31
Perinatal and one-year outcomes of non-immune hydrops fetalis by etiology and age at diagnosis. ( 26712114 )
2016
32
Hydrops fetalis in a congenital chagas case in a non-endemic area. ( 26940819 )
2016
33
EP03.14: Using spatiotemporal image correlation with M-mode display to monitor ventricular systolic function of hydrops fetalis. ( 27644483 )
2016
34
Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427Ta88>a88C). ( 26757782 )
2016
35
A Rare Association of Non-Compaction of the Ventricular Myocardium, and Non-Immune Hydrops Fetalis. ( 27328555 )
2016
36
Non-immune Hydrops fetalis due to Parvovirus B19 Infection in 2 Extremely Preterm Infants: Perinatal Management and Long-term Neurodevelopmental Outcome. ( 25830498 )
2015
37
Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis. ( 26365158 )
2015
38
Perinatal-lethal Gaucher disease presenting as hydrops fetalis. ( 26327947 )
2015
39
Intracardiac Fetal Transfusion for Parvovirus-Induced Hydrops Fetalis: A Salvage Procedure. ( 26446819 )
2015
40
Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. ( 25557883 )
2015
41
Antenatal diagnosis of idiopathic arterial calcification with hydrops fetalis. ( 25851317 )
2015
42
Familial Hemophagocytic Lymphohistiocytosis Presenting as Hydrops Fetalis. ( 26199792 )
2015
43
KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome. ( 25724378 )
2015
44
Clinical Features of Neonates with Hydrops Fetalis. ( 26070120 )
2015
45
Fetal critical aortic stenosis with natural improvement of hydrops fetalis due to spontaneous relief of severe restrictive atrial communication. ( 25772579 )
2015
46
Rapid and reliable preimplantation genetic diagnosis of common hemoglobin Bart's hydrops fetalis syndrome and hemoglobin H disease determinants using an enhanced single-tube decaplex polymerase chain reaction assay. ( 26043722 )
2015
47
Hb H Hydrops Fetalis Syndrome Caused by Association of the -a88-(SEA) Deletion and Hb Constant Spring (HBA2: c.427Ta88>a88C) Mutation in a Chinese Family. ( 25897478 )
2015
48
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. ( 26096958 )
2015
49
Single-tube nonaplex microsatellite PCR panel for preimplantation genetic diagnosis of Hb Bart's hydrops fetalis syndrome. ( 25641621 )
2015
50
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. ( 26083569 )
2015

Variations for Hydrops Fetalis

Expression for Hydrops Fetalis

Search GEO for disease gene expression data for Hydrops Fetalis.

Pathways for Hydrops Fetalis

GO Terms for Hydrops Fetalis

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.02 EPHB4 GBE1 GPI GUSB HBA1
2 ficolin-1-rich granule lumen GO:1904813 8.96 GPI GUSB

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

id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 8.8 GBE1 GPI GUSB

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 8.32 GBE1

Sources for Hydrops Fetalis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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