HFASD
MCID: HYD059
MIFTS: 42

Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect (HFASD)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune 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, bone and placenta, and related phenotypes are anemia and respiratory distress

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 193)
# Related Disease Score Top Affiliating Genes
1 hydrops fetalis 13.0
2 hydrops fetalis, nonimmune 13.0
3 immune hydrops fetalis 12.6
4 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features 12.3
5 hydrops fetalis anemia immune disorder absent thumb 12.3
6 fetal edema 12.0
7 mucopolysaccharidosis, type vii 11.8
8 hemoglobin h disease 11.7
9 alpha-thalassemia 11.6
10 teratoma 11.6
11 lymphangiectasia, pulmonary, congenital 11.6
12 congenital dyserythropoietic anemia 11.6
13 pyruvate kinase deficiency of red cells 11.5
14 gaucher disease, perinatal lethal 11.5
15 transaldolase deficiency 11.5
16 achondrogenesis, type ii 11.4
17 chondrodysplasia, blomstrand type 11.4
18 lymphedema, hereditary, iii 11.4
19 semmekrot haraldsson weemaes syndrome 11.3
20 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.2
21 greenberg dysplasia 11.2
22 porphyria, congenital erythropoietic 11.2
23 pyknoachondrogenesis 11.2
24 retinohepatoendocrinologic syndrome 11.2
25 short-rib thoracic dysplasia 12 11.2
26 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2
27 hypochondrogenesis 11.2
28 fetal erythroblastosis 11.2
29 fetal parvovirus syndrome 11.2
30 glucosephosphate isomerase deficiency 11.2
31 thalassemia 10.7
32 chorioangioma 10.5
33 cystic lymphangioma 10.4
34 atrial standstill 1 10.4
35 down syndrome 10.4
36 pulmonary sequestration 10.3
37 chylothorax, congenital 10.3
38 diamond-blackfan anemia 10.3
39 hemophagocytic lymphohistiocytosis 10.3
40 thrombosis 10.3
41 gaucher's disease 10.3
42 syphilis 10.3
43 polyhydramnios 10.3
44 hemangioendothelioma 10.3
45 cytomegalovirus infection 10.3
46 neuroblastoma 10.2
47 hemangioma 10.2
48 lymphedema 10.2
49 congenital syphilis 10.2
50 endocardial fibroelastosis 10.2

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

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, Bone, Placenta, Lung, Brain, Kidney, Bone Marrow

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 829)
# 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
Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia. ( 30504332 )
2018
18
Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis. ( 30378124 )
2018
19
Placental Chorioangioma with Nonimmune Hydrops Fetalis. ( 30075468 )
2018
20
Outcome and Treatment of Antenatally Diagnosed Nonimmune Hydrops Fetalis. ( 28647738 )
2018
21
Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation. ( 29476731 )
2018
22
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. ( 30055085 )
2018
23
hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. ( 30115739 )
2018
24
Hydrops Fetalis And The Parvovirus B-19. ( 30124157 )
2018
25
Peripheral Blood Smear of Bart's Hydrops Fetalis. ( 30127576 )
2018
26
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. ( 30244526 )
2018
27
Nonimmune hydrops fetalis: identifying the underlying genetic etiology. ( 30410095 )
2018
28
A Rare Hb H Hydrops Fetalis Syndrome Caused by the - -SEA Deletion in Combination with the Rare Hb Hirosaki Mutation in a Chinese Patient. ( 30486690 )
2018
29
Deletion of macro domain containing 2(MACRO D2) associated with transient hydrops fetalis. ( 30545550 )
2018
30
Fetal Thoracoamniotic Shunting in a Case of Congenital Pulmonary Airway Malformations with Hydrops Fetalis. ( 28948063 )
2017
31
Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. ( 28174644 )
2017
32
Fetal hemoglobin Bart's hydrops fetalis: pathophysiology, prenatal diagnosis and possibility of intrauterine treatment. ( 28277912 )
2017
33
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience. ( 28822227 )
2017
34
A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis. ( 28603204 )
2017
35
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
36
Alpha-Thalassemia Major and Restrictive Foramen Ovale in a Preterm Neonate Without Severe Hydrops Fetalis. ( 28381365 )
2017
37
Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis. ( 29594000 )
2017
38
Prognostic factors of hydrops fetalis with pleural effusion. ( 28672054 )
2017
39
Pulmonary Neuroendocrine Cell Hyperplasia in Hemoglobin Bart-induced Hydrops Fetalis: A model for Chronic Intrauterine Hypoxia. ( 28727978 )
2017
40
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies. ( 28180938 )
2017
41
Fetal Anemia Causing Hydrops Fetalis From an Alpha-Globin Variant: Homozygous Hemoglobin Constant Spring. ( 29240037 )
2017
42
An international registry of survivors with Hb Bart's Hydrops Fetalis Syndrome. ( 28057638 )
2017
43
Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter? ( 29076544 )
2017
44
Mesalazine as a cause of fetal anemia and hydrops fetalis: A case report. ( 29390381 )
2017
45
Cardiac Etiologies of Hydrops Fetalis. ( 28561210 )
2017
46
Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis-Insights from a Population-Based Dataset. ( 28533037 )
2017
47
Resolution of hydrops fetalis caused by atrioventricular block: good postnatal evolution with terbutaline treatment. ( 29714889 )
2017
48
Kaposiform Hemangioendothelioma Presenting as Hydrops Fetalis. ( 28318049 )
2017
49
Resuscitation with Intact Placental Circulation in a Preterm Infant with Hydrops Fetalis. ( 28367357 )
2017
50
Etiology and Perinatal Outcome of Nonimmune Hydrops Fetalis in Southern China. ( 28611934 )
2017

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 rs105751926
2 EPHB4 p.Ile782Ser VAR_078064 rs105751926

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

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