MCID: HYD012
MIFTS: 50

Hydrops Fetalis

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

Aliases & Classifications for Hydrops Fetalis

MalaCards integrated aliases for Hydrops Fetalis:

Name: Hydrops Fetalis 49 28 51 69
Familial Non-Immune Hydrops Fetalis 49
Hydrops Fetalis, Non-Immune 69
Idiopathic Hydrops Fetalis 49
Hydrops Fetalis Nonimmune 49
Nonimmune Hydrops Fetalis 28

Classifications:



External Ids:

ICD10 32 P56 P56.0 P56.9
SNOMED-CT via HPO 65 276508000

Summaries for Hydrops Fetalis

NIH Rare Diseases : 49 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 hydrops fetalis, nonimmune and hemoglobin h disease, and has symptoms including peau d'orange and edema. An important gene associated with Hydrops Fetalis is GUSB (Glucuronidase Beta), and among its related pathways/superpathways are Binding and Uptake of Ligands by Scavenger Receptors and Malaria. The drugs Darbepoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and placenta, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 179)
# Related Disease Score Top Affiliating Genes
1 hydrops fetalis, nonimmune 34.3 HBA1 HBA2
2 hemoglobin h disease 32.3 HBA1 HBA2
3 alpha-thalassemia 32.0 HBA1 HBA2
4 immune hydrops fetalis 31.2 EPHB4 GBE1 GUSB HBA1 HBA2 PIEZO1
5 thalassemia 30.4 HBA1 HBA2
6 hemoglobinopathy 30.0 HBA1 HBA2
7 beta-thalassemia 29.7 HBA1 HBA2
8 hemolytic anemia 28.8 HBA2 PIEZO1
9 hydrops fetalis, nonimmune, and/or atrial septal defect 12.7
10 hydrops fetalis anemia immune disorder absent thumb 12.1
11 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features 12.1
12 mucopolysaccharidosis, type vii 11.6
13 fetal edema 11.5
14 teratoma 11.4
15 lymphangiectasia, pulmonary, congenital 11.4
16 congenital dyserythropoietic anemia 11.4
17 pyruvate kinase deficiency of red cells 11.4
18 transaldolase deficiency 11.4
19 gaucher disease, perinatal lethal 11.4
20 lymphedema, hereditary, iii 11.2
21 chondrodysplasia, blomstrand type 11.2
22 semmekrot haraldsson weemaes syndrome 11.2
23 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
24 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.1
25 achondrogenesis, type ii 11.1
26 hypochondrogenesis 11.1
27 greenberg dysplasia 11.1
28 porphyria, congenital erythropoietic 11.1
29 pyknoachondrogenesis 11.1
30 retinohepatoendocrinologic syndrome 11.1
31 short-rib thoracic dysplasia 12 11.1
32 chorioangioma 10.4
33 mucopolysaccharidosis-plus syndrome 10.3
34 hepatitis 10.2
35 lysosomal storage disease 10.2
36 atrial standstill 1 10.2
37 hemophagocytic lymphohistiocytosis 10.2
38 down syndrome 10.2
39 syphilis 10.2
40 pulmonary sequestration 10.2
41 cerebritis 10.1
42 congenital syphilis 10.1
43 lymphedema 10.1
44 mediastinitis 10.1
45 diamond-blackfan anemia 10.1
46 polyhydramnios 10.1
47 methemoglobinemia, beta-globin type 10.1 HBA1 HBA2
48 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.1 HBA1 HBA2
49 hennekam lymphangiectasia-lymphedema syndrome 1 10.0
50 chylothorax, congenital 10.0

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:

31
# Description HPO Frequency HPO Source Accession
1 hydrops fetalis 31 hallmark (90%) HP:0001789

UMLS symptoms related to Hydrops Fetalis:


peau d'orange, edema

GenomeRNAi Phenotypes related to Hydrops Fetalis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.23 HBA1 HBA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.23 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.23 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.23 HBA1 HBA2

Drugs & Therapeutics for Hydrops Fetalis

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 209810-58-2, 11096-26-7
2 Hematinics Phase 2, Phase 3
3
Betamethasone Approved, Vet_approved Phase 1, Phase 2 378-44-9 9782
4 Betamethasone Valerate Phase 1, Phase 2 2152-44-5
5 glucocorticoids Phase 1, Phase 2
6 Respiratory System Agents Phase 1, Phase 2
7 Hormone Antagonists Phase 1, Phase 2
8 Hormones Phase 1, Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
10 Anti-Asthmatic Agents Phase 1, Phase 2
11 Anti-Inflammatory Agents Phase 1, Phase 2
12 Betamethasone benzoate Phase 1, Phase 2
13 Betamethasone sodium phosphate Phase 1, Phase 2
14 Betamethasone-17,21-dipropionate Phase 1, Phase 2
15
Menthol Approved Phase 1 2216-51-5 16666
16 Anti-Arrhythmia Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 EPO-4-Rhesus Study 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 Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
6 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Not yet recruiting NCT02956564
7 Fetal Birth Defects: Toward a Precision-based Approach Not yet recruiting NCT03412760

Search NIH Clinical Center for Hydrops Fetalis

Genetic Tests for Hydrops Fetalis

Genetic tests related to Hydrops Fetalis:

# Genetic test Affiliating Genes
1 Nonimmune Hydrops Fetalis 28
2 Hydrops Fetalis 28

Anatomical Context for Hydrops Fetalis

MalaCards organs/tissues related to Hydrops Fetalis:

38
Heart, Lung, Placenta, Brain, Bone, Testes, Endothelial

Publications for Hydrops Fetalis

Articles related to Hydrops Fetalis:

(show top 50) (show all 583)
# Title Authors Year
1
Iron overload in transfusion-dependent survivors of hemoglobin Bart's hydrops fetalis. ( 29371322 )
2018
2
A case of vasculopathy of unknown etiology associated with fatal hydrops fetalis and review of the literature on intimomedial mucoid degeneration. ( 29414431 )
2018
3
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. ( 28822227 )
2017
4
Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter? ( 29076544 )
2017
5
An international registry of survivors with Hb Bart's Hydrops Fetalis Syndrome. ( 28057638 )
2017
6
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. ( 28180938 )
2017
7
Fetal Anemia Causing Hydrops Fetalis From an Alpha-Globin Variant: Homozygous Hemoglobin Constant Spring. ( 29240037 )
2017
8
Prognostic factors of hydrops fetalis with pleural effusion. ( 28672054 )
2017
9
Alpha-Thalassemia Major and Restrictive Foramen Ovale in a Preterm Neonate Without Severe Hydrops Fetalis. ( 28381365 )
2017
10
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis. ( 28603204 )
2017
11
Outcome and Treatment of Antenatally Diagnosed Nonimmune Hydrops Fetalis. ( 28647738 )
2017
12
Preservative Monitoring of a Greek Woman with Hydrops Fetalis due to Parvovirus B19 Infection. ( 28785496 )
2017
13
Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China. ( 28611934 )
2017
14
Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. ( 28174644 )
2017
15
Kaposiform Hemangioendothelioma Presenting as Hydrops Fetalis. ( 28318049 )
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
Resuscitation with Intact Placental Circulation in a Preterm Infant with Hydrops Fetalis. ( 28367357 )
2017
18
Fetal hemoglobin Bart's hydrops fetalis: pathophysiology, prenatal diagnosis and possibility of intrauterine treatment. ( 28277912 )
2017
19
Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis-Insights from a Population-Based Dataset. ( 28533037 )
2017
20
Cardiac Etiologies of Hydrops Fetalis. ( 28561210 )
2017
21
Fetal Thoracoamniotic Shunting in a Case of Congenital Pulmonary Airway Malformations with Hydrops Fetalis. ( 28948063 )
2017
22
Mesalazine as a cause of fetal anemia and hydrops fetalis: A case report. ( 29390381 )
2017
23
Pulmonary Neuroendocrine Cell Hyperplasia in Hemoglobin Bart-induced Hydrops Fetalis: A model for Chronic Intrauterine Hypoxia. ( 28727978 )
2017
24
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. ( 27400125 )
2016
25
Cerebral Venous Engorgement in Hydrops Fetalis. ( 27403227 )
2016
26
Perinatal and one-year outcomes of non-immune hydrops fetalis by etiology and age at diagnosis. ( 26712114 )
2016
27
Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178Ga88>a88C) and the Southeast Asian (- -(SEA)/) Deletion. ( 27686733 )
2016
28
Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427Ta88>a88C). ( 26757782 )
2016
29
Hemoglobin Bart hydrops fetalis: A model for studying vascular changes in placental hypoxia. ( 27452444 )
2016
30
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience. ( 27928775 )
2016
31
An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for KrA1ppel-like Factor 1 mutations. ( 28361594 )
2016
32
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. ( 27416089 )
2016
33
EP03.14: Using spatiotemporal image correlation with M-mode display to monitor ventricular systolic function of hydrops fetalis. ( 27644483 )
2016
34
Congenital Chylothorax: A Unique Presentation of Nonimmune Hydrops Fetalis in a Preterm Infant. ( 26945279 )
2016
35
Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise. ( 26914330 )
2016
36
A Rare Association of Non-Compaction of the Ventricular Myocardium, and Non-Immune Hydrops Fetalis. ( 27328555 )
2016
37
Pulmonary neuroendocrine cell hyperplasia in hemoglobin Bart-induced hydrops fetalis: A model for chronic intrauterine hypoxia. ( 27598399 )
2016
38
Optimizing chronic transfusion therapy for survivors of hemoglobin Barts hydrops fetalis. ( 26732098 )
2016
39
Chylous Ascites in a Neonate with Hydrops Fetalis. ( 27670562 )
2016
40
Hydrops fetalis in a congenital chagas case in a non-endemic area. ( 26940819 )
2016
41
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. ( 26096958 )
2015
42
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
43
Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis. ( 26365158 )
2015
44
KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome. ( 25724378 )
2015
45
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. ( 26333996 )
2015
46
Non-immune Hydrops fetalis due to Parvovirus B19 Infection in 2 Extremely Preterm Infants: Perinatal Management and Long-term Neurodevelopmental Outcome. ( 25830498 )
2015
47
Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis. ( 25557883 )
2015
48
Fetal critical aortic stenosis with natural improvement of hydrops fetalis due to spontaneous relief of severe restrictive atrial communication. ( 25772579 )
2015
49
Antenatal diagnosis of idiopathic arterial calcification with hydrops fetalis. ( 25851317 )
2015
50
Etiology of non-immune hydrops fetalis: An update. ( 25712632 )
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:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.72 EPHB4 GBE1 GUSB HBA1 HBA2
2 cytosolic small ribosomal subunit GO:0022627 9.26 HBA1 HBA2
3 endocytic vesicle lumen GO:0071682 9.16 HBA1 HBA2
4 hemoglobin complex GO:0005833 8.96 HBA1 HBA2
5 haptoglobin-hemoglobin complex GO:0031838 8.62 HBA1 HBA2

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

# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.4 HBA1 HBA2
2 protein heterooligomerization GO:0051291 9.37 HBA1 HBA2
3 response to hydrogen peroxide GO:0042542 9.32 HBA1 HBA2
4 positive regulation of cell death GO:0010942 9.26 HBA1 HBA2
5 bicarbonate transport GO:0015701 9.16 HBA1 HBA2
6 hydrogen peroxide catabolic process GO:0042744 8.96 HBA1 HBA2
7 oxygen transport GO:0015671 8.62 HBA1 HBA2

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.4 HBA1 HBA2
2 heme binding GO:0020037 9.37 HBA1 HBA2
3 oxygen binding GO:0019825 9.32 HBA1 HBA2
4 peroxidase activity GO:0004601 9.26 HBA1 HBA2
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GBE1 GUSB
6 oxygen carrier activity GO:0005344 8.96 HBA1 HBA2
7 haptoglobin binding GO:0031720 8.62 HBA1 HBA2

Sources for Hydrops Fetalis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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