MCID: HYD059
MIFTS: 37

Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

Categories: Genetic diseases, Immune diseases, Fetal diseases

Aliases & Classifications for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

MalaCards integrated aliases for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect:

Name: Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect 57
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect, Susceptibility to 57 6
Hydrops Fetalis 44 73
Hfasd 57 75
Hydrops Fetalis, Non-Immune, and/or Atrial Septal Defect 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity
variable severity
two unrelated families have been reported (last curated january 2017)
onset of hydrops fetalis in utero
hydrops fetalis is associated with high morbidity and mortality in the neonatal period
hydrops resolves spontaneously with time after the neonatal period


HPO:

32
hydrops fetalis, nonimmune, and/or atrial septal defect:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

UniProtKB/Swiss-Prot : 75 Hydrops fetalis, non-immune, and/or atrial septal defect: A form of non-immune hydrops fetalis, a condition characterized by fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are non-immune conditions that present with generalized edema of the fetus. Approximately 15% of non- immune cases result from a lymphatic abnormality. HFASD is an autosomal dominant, lymphatic-related form with variable expressivity. Some patients suffer from severe manifestations that can result in early death, whereas others have milder clinical features, such as atrial septal defect or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period.

MalaCards based summary : Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect, also known as hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to, is related to hydrops fetalis and hydrops fetalis, nonimmune, and has symptoms including edema and peau d'orange. An important gene associated with Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect is EPHB4 (EPH Receptor B4). Affiliated tissues include heart, placenta and lung, and related phenotypes are facial edema and atrial septal defect

OMIM : 57 HFASD is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016). (617300)

Related Diseases for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

Diseases related to Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 168)
# Related Disease Score Top Affiliating Genes
1 hydrops fetalis 12.9
2 hydrops fetalis, nonimmune 12.8
3 immune hydrops fetalis 12.5
4 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features 12.1
5 hydrops fetalis anemia immune disorder absent thumb 12.1
6 fetal edema 11.8
7 mucopolysaccharidosis, type vii 11.6
8 hemoglobin h disease 11.5
9 alpha-thalassemia 11.4
10 teratoma 11.4
11 lymphangiectasia, pulmonary, congenital 11.4
12 congenital dyserythropoietic anemia 11.4
13 pyruvate kinase deficiency of red cells 11.4
14 gaucher disease, perinatal lethal 11.4
15 transaldolase deficiency 11.4
16 glucose phosphate isomerase deficiency 11.4
17 chondrodysplasia, blomstrand type 11.2
18 lymphedema, hereditary, iii 11.2
19 semmekrot haraldsson weemaes syndrome 11.2
20 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.1
21 achondrogenesis, type ii 11.1
22 greenberg dysplasia 11.1
23 porphyria, congenital erythropoietic 11.1
24 pyknoachondrogenesis 11.1
25 short-rib thoracic dysplasia 12 11.1
26 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
27 hypochondrogenesis 11.1
28 fetal parvovirus syndrome 11.1
29 thalassemia 10.5
30 chorioangioma 10.4
31 hepatitis 10.2
32 lysosomal storage disease 10.2
33 atrial standstill 1 10.2
34 pulmonary sequestration 10.2
35 down syndrome 10.2
36 diamond-blackfan anemia 10.2
37 hemophagocytic lymphohistiocytosis 10.2
38 cystic lymphangioma 10.2
39 syphilis 10.2
40 polyhydramnios 10.2
41 lymphedema 10.1
42 cerebritis 10.1
43 mediastinitis 10.1
44 congenital syphilis 10.1
45 endocardial fibroelastosis 10.0
46 heart block, congenital 10.0
47 chylothorax, congenital 10.0
48 congenital disorder of glycosylation, type in 10.0
49 beta-thalassemia 10.0
50 sacrococcygeal teratoma 10.0

Graphical network of the top 20 diseases related to Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect:



Diseases related to Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

Symptoms & Phenotypes for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
edema

Head And Neck Face:
facial edema

Hematology:
anemia (in some patients)

Prenatal Manifestations:
nuchal translucency

Cardiovascular Vascular:
varicose veins (in older patients)

Respiratory:
respiratory distress
chylothoraces
hydrothoraces

Respiratory Lung:
pulmonary edema
pleural effusions

Cardiovascular Heart:
pericardial effusions
atrial septal defect (in some patients)

Prenatal Manifestations Amniotic Fluid:
hydrops fetalis, nonimmune


Clinical features from OMIM:

617300

Human phenotypes related to Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 facial edema 32 HP:0000282
2 atrial septal defect 32 occasional (7.5%) HP:0001631
3 pericardial effusion 32 HP:0001698
4 nonimmune hydrops fetalis 32 HP:0001790
5 anemia 32 occasional (7.5%) HP:0001903
6 respiratory distress 32 HP:0002098
7 varicose veins 32 HP:0002619
8 pulmonary edema 32 HP:0100598

UMLS symptoms related to Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect:


edema, peau d'orange

Drugs & Therapeutics for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

Search Clinical Trials , NIH Clinical Center for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

Cochrane evidence based reviews: hydrops fetalis

Genetic Tests for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

Anatomical Context for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

MalaCards organs/tissues related to Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect:

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

Publications for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

Articles related to Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect:

(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, Nonimmune, and/or Atrial Septal Defect

UniProtKB/Swiss-Prot genetic disease variations for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect:

75
# Symbol AA change Variation ID SNP ID
1 EPHB4 p.Arg739Gln VAR_078063 rs1057519263Hydrops
2 EPHB4 p.Ile782Ser VAR_078064 rs1057519264Hydrops

ClinVar genetic disease variations for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EPHB4 NM_004444.4(EPHB4): c.2216G> A (p.Arg739Gln) single nucleotide variant risk factor rs1057519263 GRCh38 Chromosome 7, 100807483: 100807483
2 EPHB4 NM_004444.4(EPHB4): c.2216G> A (p.Arg739Gln) single nucleotide variant risk factor rs1057519263 GRCh37 Chromosome 7, 100405105: 100405105
3 EPHB4 NM_004444.4(EPHB4): c.2345T> G (p.Ile782Ser) single nucleotide variant risk factor rs1057519264 GRCh38 Chromosome 7, 100806559: 100806559
4 EPHB4 NM_004444.4(EPHB4): c.2345T> G (p.Ile782Ser) single nucleotide variant risk factor rs1057519264 GRCh37 Chromosome 7, 100404181: 100404181

Expression for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

Search GEO for disease gene expression data for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect.

Pathways for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

GO Terms for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

Sources for Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect

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