MCID: HYD012
MIFTS: 51

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 53 29 55 6 73
Familial Non-Immune Hydrops Fetalis 53
Hydrops Fetalis, Non-Immune 73
Idiopathic Hydrops Fetalis 53
Hydrops Fetalis Nonimmune 53
Nonimmune Hydrops Fetalis 29

Classifications:



External Ids:

ICD10 33 P56 P56.0 P56.9
SNOMED-CT via HPO 69 276508000

Summaries for Hydrops Fetalis

NIH Rare Diseases : 53 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.

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 edema and peau d'orange. 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 hydrops fetalis and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 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 181)
# Related Disease Score Top Affiliating Genes
1 hydrops fetalis, nonimmune 33.8 EPHB4 HBA1 HBA2
2 hemoglobin h disease 32.4 HBA1 HBA2
3 alpha-thalassemia 32.0 HBA1 HBA2
4 immune hydrops fetalis 31.9 GBA GUSB HBA2 PIEZO1
5 thalassemia 30.4 HBA1 HBA2
6 hemoglobinopathy 30.1 HBA1 HBA2
7 beta-thalassemia 29.6 HBA1 HBA2
8 lysosomal storage disease 29.1 GBA GUSB
9 hemolytic anemia 28.9 HBA1 HBA2 PIEZO1
10 hydrops fetalis, nonimmune, and/or atrial septal defect 12.7
11 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features 12.1
12 hydrops fetalis anemia immune disorder absent thumb 12.1
13 fetal edema 11.8
14 mucopolysaccharidosis, type vii 11.6
15 teratoma 11.4
16 lymphangiectasia, pulmonary, congenital 11.4
17 congenital dyserythropoietic anemia 11.4
18 pyruvate kinase deficiency of red cells 11.4
19 gaucher disease, perinatal lethal 11.4
20 transaldolase deficiency 11.4
21 glucose phosphate isomerase deficiency 11.4
22 chondrodysplasia, blomstrand type 11.2
23 lymphedema, hereditary, iii 11.2
24 semmekrot haraldsson weemaes syndrome 11.2
25 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.1
26 achondrogenesis, type ii 11.1
27 greenberg dysplasia 11.1
28 porphyria, congenital erythropoietic 11.1
29 pyknoachondrogenesis 11.1
30 short-rib thoracic dysplasia 12 11.1
31 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
32 hypochondrogenesis 11.1
33 fetal parvovirus syndrome 11.1
34 chorioangioma 10.4
35 hepatitis 10.2
36 atrial standstill 1 10.2
37 pulmonary sequestration 10.2
38 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.2 HBA1 HBA2
39 methemoglobinemia, beta-globin type 10.2 HBA1 HBA2
40 diabetes mellitus, insulin-dependent, 24 10.2 HBA1 HBA2
41 glutathione peroxidase deficiency 10.2 HBA1 HBA2
42 down syndrome 10.2
43 diamond-blackfan anemia 10.2
44 hemophagocytic lymphohistiocytosis 10.2
45 cystic lymphangioma 10.2
46 syphilis 10.2
47 polyhydramnios 10.2
48 hypoglycemic coma 10.1 HBA1 HBA2
49 heinz body anemias 10.1 HBA1 HBA2
50 type 1 diabetes mellitus 7 10.1 HBA1 HBA2

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

UMLS symptoms related to Hydrops Fetalis:


edema, peau d'orange

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

26
# 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

MGI Mouse Phenotypes related to Hydrops Fetalis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 EPHB4 GBA GBE1 GUSB HBA2 PIEZO1

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 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 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 Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
5 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Not yet recruiting NCT02956564 Not Applicable
6 Fetal Birth Defects: Toward a Precision-based Approach Not yet recruiting NCT03412760 Not Applicable
7 Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR Terminated NCT00143039

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 29
2 Hydrops Fetalis 29

Anatomical Context for Hydrops Fetalis

MalaCards organs/tissues related to Hydrops Fetalis:

41
Heart, Lung, Placenta, Brain, Bone, Testes, Endothelial

Publications for Hydrops Fetalis

Articles related to Hydrops Fetalis:

(show top 50) (show all 611)
# Title Authors Year
1
Outcomes following antenatal identification of hydrops fetalis: a single-centre experience from 2001 to 2012. ( 29769237 )
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
Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm. ( 29500832 )
2018
4
Thymic teratoma presenting as non-immune hydrops fetalis. ( 29515979 )
2018
5
Mesalazine as a cause of fetal anemia and hydrops fetalis: A case report: Erratum. ( 29480868 )
2018
6
Nonimmune Hydrops Fetalis: Factors Which Predict Outcome. ( 29895999 )
2018
7
Recurring mutations in <i>RPL15</i> are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. ( 29599205 )
2018
8
Iron overload in transfusion-dependent survivors of hemoglobin Bart's hydrops fetalis. ( 29371322 )
2018
9
Characterization of Hb Bart's Hydrops Fetalis Caused by -a88-<sup>SEA</sup> and a Large Novel I+<sup>0</sup>-Thalassemia Deletion. ( 29493331 )
2018
10
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. ( 29654786 )
2018
11
Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the <i>GBA</i> Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia. ( 29854527 )
2018
12
A case of mirror syndrome caused by hydrops fetalis after fetoscopic laser photocoagulation. ( 29881553 )
2018
13
Sonographic Demonstration of Intracranial Hemorrhage in a Fetus with Hydrops Fetalis due to Rh Alloimmunization after Intrauterine Intravascular Transfusion: A Case Report and Review of the Literature. ( 29780649 )
2018
14
Invasive prenatal diagnosis of I+-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15A years of experience. ( 29948167 )
2018
15
Outcomes and morbidities of patients who survive haemoglobin Bart's hydrops fetalis syndrome: 20-year retrospective review. ( 29632273 )
2018
16
Effect of maternal betamethasone on hydrops fetalis caused by extralobar pulmonary sequestration: a case report. ( 29553854 )
2018
17
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation. ( 29476731 )
2018
18
Fetal Thoracoamniotic Shunting in a Case of Congenital Pulmonary Airway Malformations with Hydrops Fetalis. ( 28948063 )
2017
19
Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. ( 28174644 )
2017
20
Fetal hemoglobin Bart's hydrops fetalis: pathophysiology, prenatal diagnosis and possibility of intrauterine treatment. ( 28277912 )
2017
21
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. ( 28822227 )
2017
22
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis. ( 28603204 )
2017
23
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
24
Alpha-Thalassemia Major and Restrictive Foramen Ovale in a Preterm Neonate Without Severe Hydrops Fetalis. ( 28381365 )
2017
25
Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis. ( 29594000 )
2017
26
Prognostic factors of hydrops fetalis with pleural effusion. ( 28672054 )
2017
27
Pulmonary Neuroendocrine Cell Hyperplasia in Hemoglobin Bart-induced Hydrops Fetalis: A model for Chronic Intrauterine Hypoxia. ( 28727978 )
2017
28
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. ( 28180938 )
2017
29
Fetal Anemia Causing Hydrops Fetalis From an Alpha-Globin Variant: Homozygous Hemoglobin Constant Spring. ( 29240037 )
2017
30
An international registry of survivors with Hb Bart's Hydrops Fetalis Syndrome. ( 28057638 )
2017
31
Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter? ( 29076544 )
2017
32
Mesalazine as a cause of fetal anemia and hydrops fetalis: A case report. ( 29390381 )
2017
33
Cardiac Etiologies of Hydrops Fetalis. ( 28561210 )
2017
34
Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis-Insights from a Population-Based Dataset. ( 28533037 )
2017
35
Kaposiform Hemangioendothelioma Presenting as Hydrops Fetalis. ( 28318049 )
2017
36
Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China. ( 28611934 )
2017
37
Resuscitation with Intact Placental Circulation in a Preterm Infant with Hydrops Fetalis. ( 28367357 )
2017
38
Preservative Monitoring of a Greek Woman with Hydrops Fetalis due to Parvovirus B19 Infection. ( 28785496 )
2017
39
Outcome and Treatment of Antenatally Diagnosed Nonimmune Hydrops Fetalis. ( 28647738 )
2017
40
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. ( 27400125 )
2016
41
Chylous Ascites in a Neonate with Hydrops Fetalis. ( 27670562 )
2016
42
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience. ( 27928775 )
2016
43
Cerebral Venous Engorgement in Hydrops Fetalis. ( 27403227 )
2016
44
An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for KrA1ppel-like Factor 1 mutations. ( 28361594 )
2016
45
Pulmonary neuroendocrine cell hyperplasia in hemoglobin Bart-induced hydrops fetalis: A model for chronic intrauterine hypoxia. ( 27598399 )
2016
46
Hemoglobin Bart hydrops fetalis: A model for studying vascular changes in placental hypoxia. ( 27452444 )
2016
47
Congenital Chylothorax: A Unique Presentation of Nonimmune Hydrops Fetalis in a Preterm Infant. ( 26945279 )
2016
48
Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia. ( 27416089 )
2016
49
Optimizing chronic transfusion therapy for survivors of hemoglobin Barts hydrops fetalis. ( 26732098 )
2016
50
Perinatal and one-year outcomes of non-immune hydrops fetalis by etiology and age at diagnosis. ( 26712114 )
2016

Variations for Hydrops Fetalis

ClinVar genetic disease variations for Hydrops Fetalis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLVCR2 GRCh37/hg19 14q24.3(chr14: 76105695-76107636) copy number loss Uncertain significance GRCh37 Chromosome 14, 76105695: 76107636

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 9.73 EPHB4 GBA GBE1 GUSB HBA1 HBA2
2 lysosomal lumen GO:0043202 9.37 GBA GUSB
3 cytosolic small ribosomal subunit GO:0022627 9.32 HBA1 HBA2
4 endocytic vesicle lumen GO:0071682 9.16 HBA1 HBA2
5 hemoglobin complex GO:0005833 8.96 HBA1 HBA2
6 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 hydrolase activity, acting on glycosyl bonds GO:0016798 9.37 GBA GUSB
2 oxygen binding GO:0019825 9.32 HBA1 HBA2
3 peroxidase activity GO:0004601 9.26 HBA1 HBA2
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.16 GBE1 GUSB
5 oxygen carrier activity GO:0005344 8.96 HBA1 HBA2
6 haptoglobin binding GO:0031720 8.62 HBA1 HBA2

Sources for Hydrops Fetalis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....