IHF
MCID: IMM039
MIFTS: 33

Immune Hydrops Fetalis (IHF)

Categories: Fetal diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immune Hydrops Fetalis

MalaCards integrated aliases for Immune Hydrops Fetalis:

Name: Immune Hydrops Fetalis 58 71
Immune Fetal Hydrops 58
Immune Fetal Edema 58
Immune Hf 58
Ihf 58

Characteristics:

Orphanet epidemiological data:

58
immune hydrops fetalis
Inheritance: Not applicable; Prevalence: 1-5/10000 (United Kingdom); Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 P56.0
UMLS via Orphanet 72 C0455990
Orphanet 58 ORPHA364013
UMLS 71 C0455990

Summaries for Immune Hydrops Fetalis

MalaCards based summary : Immune Hydrops Fetalis, also known as immune fetal hydrops, is related to hydrops fetalis, nonimmune and mucopolysaccharidosis-plus syndrome. An important gene associated with Immune Hydrops Fetalis is GUSB (Glucuronidase Beta), and among its related pathways/superpathways are Lysosome and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include placenta, tongue and fetal lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Immune Hydrops Fetalis

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

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 hydrops fetalis, nonimmune 32.3 HBA2 HBA1 GUSB
2 mucopolysaccharidosis-plus syndrome 30.3 GUSB GBA
3 thalassemia 30.2 HBA2 HBA1
4 hemolytic anemia 29.7 PIEZO1 HBA2 HBA1
5 gaucher's disease 29.6 GUSB GBA
6 deficiency anemia 29.5 HBA2 HBA1 GBA
7 ephb4-related lymphatic-related hydrops fetalis 11.3
8 piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 11.3
9 mucopolysaccharidosis, type vii 11.3
10 lymphangiectasia, pulmonary, congenital 11.3
11 lymphatic malformation 6 11.3
12 lymphatic malformation 7 11.2
13 lymphatic malformation 8 11.2
14 arterial calcification of infancy 11.2
15 polyhydramnios 10.5
16 lymphangiectasis 10.4
17 lysosomal storage disease 10.3
18 inherited metabolic disorder 10.3
19 cystic lymphangioma 10.3
20 myotonic dystrophy 1 10.2
21 down syndrome 10.2
22 galactosialidosis 10.2
23 alpha-thalassemia 10.2
24 human cytomegalovirus infection 10.2
25 teratoma 10.2
26 turner syndrome 10.2
27 syphilis 10.2
28 congestive heart failure 10.2
29 myocarditis 10.2
30 congenital syphilis 10.2
31 chromosomal triplication 10.2
32 papillomatosis, confluent and reticulated 10.0
33 helix syndrome 10.0
34 diaphragmatic hernia, congenital 10.0
35 hypertelorism 10.0
36 yellow nail syndrome 10.0
37 lymphedema-distichiasis syndrome 10.0
38 williams-beuren syndrome 10.0
39 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 10.0
40 chondrodysplasia punctata syndrome 10.0
41 glycogen storage disease ii 10.0
42 neuraminidase deficiency 10.0
43 refsum disease, classic 10.0
44 adrenoleukodystrophy 10.0
45 peroxisome biogenesis disorder 1b 10.0
46 chylothorax, congenital 10.0
47 capillary malformation-arteriovenous malformation 1 10.0
48 congenital disorder of glycosylation, type in 10.0
49 hydrops fetalis, nonimmune, with gracile bones and dysmorphism 10.0
50 hydrops, lactic acidosis, and sideroblastic anemia 10.0

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



Diseases related to Immune Hydrops Fetalis

Symptoms & Phenotypes for Immune Hydrops Fetalis

GenomeRNAi Phenotypes related to Immune 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-113 9.23 HBA1 HBA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.23 HBA1 HBA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.23 HBA1 HBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.23 HBA1 HBA2

Drugs & Therapeutics for Immune Hydrops Fetalis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Unknown status NCT02956564
2 Whole Exome Sequencing and Whole Genome Sequencing for Non-immune Fetal/Neonatal Hydrops Recruiting NCT03911531
3 Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops Fetalis by Massively Parallel Sequencing Not yet recruiting NCT04308603

Search NIH Clinical Center for Immune Hydrops Fetalis

Genetic Tests for Immune Hydrops Fetalis

Anatomical Context for Immune Hydrops Fetalis

MalaCards organs/tissues related to Immune Hydrops Fetalis:

40
Placenta, Tongue, Fetal Lung, Pituitary

Publications for Immune Hydrops Fetalis

Articles related to Immune Hydrops Fetalis:

(show top 50) (show all 243)
# Title Authors PMID Year
1
Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing. 61
33382994 2021
2
Non-immune hydrops fetalis was rare in Sweden during 1997-2015, but cases were associated with complications and poor prognosis. 61
32187745 2020
3
Clinical characteristics and neonatal outcomes of liveborn newborns with hydrops fetalis treated in a tertiary level neonatal intensive care unit. 61
32212385 2020
4
Infantile onset Pompe disease presenting with non-immune hydrops fetalis. 61
31467850 2019
5
Congenital erythropoietic porphyria: Recent advances. 61
30685241 2019
6
Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey. 61
31727109 2019
7
Identification of a homozygous deletion of the NEU1 gene in a patient with type II sialidosis presenting isolated fetal ascites and central nervous system hypoplasia. 61
32742167 2019
8
A system-based approach to the genetic etiologies of non-immune hydrops fetalis. 61
31087399 2019
9
Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases. 61
31341179 2019
10
Diamond-Blackfan anemia RPL35A: a case report. 61
31208452 2019
11
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. 61
31028252 2019
12
Non-immune hydrops fetalis neonate born to a mother with yellow nail syndrome. 61
30883972 2019
13
Placental chorioangioma associated with polyhydramnios and hydrops fetalis. 61
30700468 2019
14
Non-immune Hydrops Fetalis and Hepatic Dysfunction in a Preterm Infant With Congenital Syphilis. 61
31921721 2019
15
Early fetal hydropic changes are associated with moderate dilatation of the brain ventricular system: A clue to a possible link between cervical lymphatic engorgement and ventricular dilatation? 61
31119910 2019
16
A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations. 61
31192173 2019
17
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy. 61
30442200 2018
18
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. 61
28822227 2018
19
A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family. 61
30055085 2018
20
N° 363 - Évaluation et prise en charge de l'anasarque fÅ“toplacentaire non immune. 61
29980442 2018
21
No. 363-Investigation and Management of Non-immune Fetal Hydrops. 61
30103882 2018
22
Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report. 61
29976176 2018
23
Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter? 61
29076544 2018
24
Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. 61
29444212 2018
25
Infection status of human parvovirus B19, cytomegalovirus and herpes simplex Virus-1/2 in women with first-trimester spontaneous abortions in Chongqing, China. 61
29688863 2018
26
A case of vasculopathy of unknown etiology associated with fatal hydrops fetalis and review of the literature on intimomedial mucoid degeneration. 61
29414431 2018
27
[Progress in genetic research on non-immune hydrops fetalis]. 61
29419878 2018
28
Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center. 61
30968631 2018
29
Thymic teratoma presenting as non-immune hydrops fetalis. 61
29515979 2018
30
Coexistence of Kasabach-Merritt Syndrome and placental chorioangioma in a premature infant. 61
29991142 2018
31
Perinatal mortality in Japanese women diagnosed with gestational diabetes mellitus and diabetes mellitus. 61
28817202 2017
32
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses. 61
28370531 2017
33
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. 61
28749998 2017
34
Clinical course of sly syndrome (mucopolysaccharidosis type VII). 61
26908836 2016
35
Percutaneous umbilical blood sampling: current trends and outcomes. 61
27014852 2016
36
A Rare Association of Non-Compaction of the Ventricular Myocardium, and Non-Immune Hydrops Fetalis. 61
27328555 2016
37
Perinatal and one-year outcomes of non-immune hydrops fetalis by etiology and age at diagnosis. 61
26712114 2016
38
Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis. 61
26365158 2016
39
[NEW APPROACH IN DIAGNOSTIC ALGORITHM OF AN INFECTIOUS AGENTS (PARVOVIRUS B19 AND CHLAMYDIA TRACHOMATIS) INVOLVED IN THE DEVELOPMENT OF PATHOLOGICAL PREGNANCY]. 61
27514136 2016
40
Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. 61
26096958 2015
41
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. 61
26333996 2015
42
Non-immune Hydrops fetalis due to Parvovirus B19 Infection in 2 Extremely Preterm Infants: Perinatal Management and Long-term Neurodevelopmental Outcome. 61
25830498 2015
43
Etiology of non-immune hydrops fetalis: An update. 61
25712632 2015
44
Non-immune hydrops fetalis as a diagnostic and survival problems: what do we tell the parents? 61
25294712 2015
45
Primary endocardial fibroelastosis and nonimmune hydrops fetalis: case report with autopsy. 61
25517884 2015
46
Parvovirus B19 infection as a cause of acute myositis in an adult. 61
25839959 2015
47
De novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis). 61
25289481 2015
48
Perinatal-lethal Gaucher disease presenting as hydrops fetalis. 61
26327947 2015
49
Relation between parvovirus B19 infection and fetal mortality and spontaneous abortion. 61
26157715 2015
50
Mediastinal teratoma with hydrops fetalis in a newborn and development of chronic respiratory insufficiency. 61
25435854 2014

Variations for Immune Hydrops Fetalis

Expression for Immune Hydrops Fetalis

Search GEO for disease gene expression data for Immune Hydrops Fetalis.

Pathways for Immune Hydrops Fetalis

GO Terms for Immune Hydrops Fetalis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.71 HBA2 HBA1 GUSB GBA
2 extracellular exosome GO:0070062 9.65 HBA2 HBA1 GUSB GBE1 GBA
3 lysosomal lumen GO:0043202 9.37 GUSB GBA
4 cytosolic small ribosomal subunit GO:0022627 9.32 HBA2 HBA1
5 endocytic vesicle lumen GO:0071682 9.16 HBA2 HBA1
6 hemoglobin complex GO:0005833 8.96 HBA2 HBA1
7 haptoglobin-hemoglobin complex GO:0031838 8.62 HBA2 HBA1

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

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

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.43 HBA2 HBA1
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.4 GUSB GBA
3 peroxidase activity GO:0004601 9.37 HBA2 HBA1
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.32 GUSB GBE1
5 oxygen binding GO:0019825 9.26 HBA2 HBA1
6 oxygen carrier activity GO:0005344 9.16 HBA2 HBA1
7 organic acid binding GO:0043177 8.96 HBA2 HBA1
8 haptoglobin binding GO:0031720 8.62 HBA2 HBA1

Sources for Immune Hydrops Fetalis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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