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NIHF
MCID: HYD038
MIFTS: 62

Hydrops Fetalis, Nonimmune (NIHF)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hydrops Fetalis, Nonimmune

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MalaCards integrated aliases for Hydrops Fetalis, Nonimmune:

Name: Hydrops Fetalis, Nonimmune 56 54 39
Hydrops Fetalis 52 58 29 54 6 71
Non-Immune Hydrops Fetalis 58 29 6 17
Nihf 56 58
Familial Non-Immune Hydrops Fetalis 52
Hemoglobin Bart's Hydrops Syndrome 71
Alpha-Thalassemia Hydrops Fetalis 58
Hemoglobin Bart's Hydrops Fetalis 58
Homozygous Alpha0-Thalassemia 58
Hydrops Fetalis, Non-Immune 71
Idiopathic Hydrops Fetalis 52
Hydrops Fetalis Nonimmune 52
Hb Bart's Hydrops Fetalis 58
Nonimmune Hydrops Fetalis 6
Non-Immune Fetal Hydrops 58
Alpha-Thalassemia Major 58
Generalized Fetal Edema 58
Non-Immune Fetal Edema 58
Fetal Anasarca 58
Fetal Hydrops 58
Non-Immune Hf 58
Hf 58

Characteristics:

Orphanet epidemiological data:

58
hb bart's hydrops fetalis
Inheritance: Autosomal recessive; Prevalence: >1/1000 (South East Asia); Age of onset: Infancy,Neonatal;
hydrops fetalis
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth;
non-immune hydrops fetalis
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal; Age of death: embryofetal,infantile,stillbirth;

OMIM:

56
Inheritance:
multifactorial

Miscellaneous:
onset in utero
pre- or perinatal death often occurs
heterogeneous causes


HPO:

31
hydrops fetalis, nonimmune:
Onset and clinical course congenital onset


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

OMIM 56 236750
ICD10 32 P56 P56.0 P56.9
MESH via Orphanet 44 D015160
ICD10 via Orphanet 33 D56.0 P56.0 P56.9 more
UMLS via Orphanet 72 C0020305 C0455988
MedGen 41 C0455988
UMLS 71 C0020305 C0272005 C0455988
Sources

Summaries for Hydrops Fetalis, Nonimmune

About this section
NIH Rare Diseases : 52 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, Nonimmune, also known as hydrops fetalis, is related to hemoglobin h disease and hennekam syndrome, and has symptoms including edema and peau d'orange. An important gene associated with Hydrops Fetalis, Nonimmune is NEU1 (Neuraminidase 1), and among its related pathways/superpathways are Lysosome and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Antibodies and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and placenta, and related phenotypes are anemia and congestive heart failure

OMIM : 56 Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). (236750)

Wikipedia : 74 Hydrops fetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at... more...

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Related Diseases for Hydrops Fetalis, Nonimmune

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

(show top 50) (show all 617)
# Related Disease Score Top Affiliating Genes
1 hemoglobin h disease 32.5 HBB HBA2 HBA1
2 hennekam syndrome 32.3 FLT4 EPHB4
3 mucopolysaccharidosis-plus syndrome 30.8 NEU1 GUSB GBA
4 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 30.6 HBB HBA2 GBA
5 lysosomal storage disease 30.6 NEU1 GUSB GBA
6 splenomegaly 30.5 HBA2 GBA
7 deficiency anemia 30.5 HBB HBA2 HBA1
8 hemoglobinopathy 30.4 HBB HBA2 HBA1
9 galactosialidosis 30.3 THSD1 NEU1
10 morquio syndrome 30.3 NEU1 GUSB
11 alpha-thalassemia 30.2 HBB HBA2 HBA1
12 thalassemia 30.2 HBB HBA2 HBA1
13 iron metabolism disease 30.2 HBB HBA2
14 primary lymphedema 30.1 FLT4 EPHB4
15 hemoglobin zurich 30.1 HBB HBA2
16 immune hydrops fetalis 30.1 HBA1 GUSB GBA
17 beta-thalassemia 30.0 HBB HBA2 HBA1
18 microcytic anemia 29.9 HBB HBA2 HBA1
19 sickle cell disease 29.6 HBB HBA2
20 hemochromatosis, type 1 29.5 HBB HBA2 HBA1 GBA
21 hydrops fetalis, nonimmune, with gracile bones and dysmorphism 12.7
22 ephb4-related lymphatic-related hydrops fetalis 12.5
23 piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 12.5
24 hyaline fibromatosis syndrome 12.1
25 lymphatic malformation 7 12.0
26 congenital disorder of glycosylation, type ia 11.8
27 transaldolase deficiency 11.8
28 teratoma 11.7
29 glycoproteinosis 11.7
30 congenital dyserythropoietic anemia 11.7
31 multiple pterygium syndrome, escobar variant 11.7
32 lymphangiectasia, pulmonary, congenital 11.7
33 pyruvate kinase deficiency of red cells 11.7
34 gaucher disease, perinatal lethal 11.7
35 arterial calcification of infancy 11.7
36 achondrogenesis 11.7
37 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.7
38 short-rib thoracic dysplasia 12 11.7
39 free sialic acid storage disorders 11.7
40 glucose phosphate isomerase deficiency 11.7
41 hemifacial spasm 11.5
42 achondrogenesis, type ii 11.5
43 chondrodysplasia, blomstrand type 11.5
44 greenberg dysplasia 11.5
45 hypochondrogenesis 11.5
46 lymphatic malformation 8 11.4
47 marburg hemorrhagic fever 11.4
48 porphyria, congenital erythropoietic 11.4
49 pyknoachondrogenesis 11.4
50 megalencephaly-capillary malformation-polymicrogyria syndrome 11.4

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



Diseases related to Hydrops Fetalis, Nonimmune
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Symptoms & Phenotypes for Hydrops Fetalis, Nonimmune

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Human phenotypes related to Hydrops Fetalis, Nonimmune:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
2 congestive heart failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001635
3 hydrops fetalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001789
4 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
5 abnormal hemoglobin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011902
6 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
7 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
8 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
9 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
10 oligohydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001562
11 preeclampsia 58 31 frequent (33%) Frequent (79-30%) HP:0100602
12 pericarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001701
13 nonimmune hydrops fetalis 31 HP:0001790

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
pericardial edema

Abdomen:
peritoneal edema

Muscle Soft Tissue:
subcutaneous edema

Respiratory Lung:
pleural edema

Skin Nails Hair Skin:
generalized subcutaneous edema

Clinical features from OMIM:

236750

UMLS symptoms related to Hydrops Fetalis, Nonimmune:


edema, peau d'orange

MGI Mouse Phenotypes related to Hydrops Fetalis, Nonimmune:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 EPHB4 FLT4 GBA GPC3 GUSB HBA2
2 adipose tissue MP:0005375 9.72 FLT4 GUSB NEB PTPN11 THSD1
3 integument MP:0010771 9.7 FLT4 GBA GPC3 GUSB HBA2 NEU1
4 mortality/aging MP:0010768 9.61 EPHB4 FLT4 GBA GPC3 GUSB HBA2
5 muscle MP:0005369 9.1 EPHB4 FLT4 HBA2 NEB NEU1 PTPN11
Sources

Drugs & Therapeutics for Hydrops Fetalis, Nonimmune

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4
2 Pharmaceutical Solutions Phase 4
3 Rho(D) Immune Globulin Phase 4
4 gamma-Globulins Phase 4
5 Immunoglobulins, Intravenous Phase 4
6 Immunologic Factors Phase 4
7 Immunoglobulins Phase 4
8
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
9 Analgesics, Non-Narcotic Phase 2, Phase 3
10 Analgesics Phase 2, Phase 3
11 Cyclooxygenase Inhibitors Phase 2, Phase 3
12 Antirheumatic Agents Phase 2, Phase 3
13 Anti-Inflammatory Agents Phase 2, Phase 3
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
15 Hormones Phase 1
16 Calcium, Dietary Phase 1
17
Calcium Nutraceutical Phase 1 7440-70-2 271
18
Procainamide Approved 51-06-9 4913
19
Amiodarone Approved, Investigational 1951-25-3 2157
20
Adenosine Approved, Investigational 58-61-7 60961
21
Digoxin Approved 20830-75-5 30322 2724385
22
Propranolol Approved, Investigational 525-66-6 4946
23
Sodium citrate Approved, Investigational 68-04-2
24
Caffeine Approved 58-08-2 2519
25
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
26
Imidacloprid Vet_approved 105827-78-9 86418
27 interferons
28 Interferon-gamma
29 Sodium Channel Blockers
30 Cytochrome P-450 Enzyme Inhibitors
31 Adrenergic beta-Antagonists
32 Cardiotonic Agents
33 Antihypertensive Agents
34 Adrenergic Agents
35 Adrenergic Antagonists
36 Potassium Channel Blockers
37 Vasodilator Agents
38 Protective Agents
39 Diuretics, Potassium Sparing
40 Cytochrome P-450 CYP3A Inhibitors
41 adrenomedullin
42 Anti-Arrhythmia Agents
43 Neurotransmitter Agents
44 Citrate
45 Phosphodiesterase Inhibitors
46 Central Nervous System Stimulants
47 Caffeine citrate

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Phase 4 Study of Use of High-dose Intravenous Immune Globulin for Prevent Hyperbilirubinemia Due Rh Hemolytic Disease in Newborns Infants Completed NCT00288600 Phase 4 Intravenous Immunoglobulin;Normal saline solution
2 Minimally Invasive Management of Rh Alloimmunization: Can Amniotic Fluid DeltaOD450 Measurements Be Replaced by Doppler Studies? Completed NCT00295516 Phase 3
3 High-dose Ibuprofen for Patent Ductus Arteriosus in Extremely Preterm Infants: a Randomized Controlled Study Completed NCT01243996 Phase 2, Phase 3 Ibuprofen
4 Prevention of Myopia of Prematurity by Calcium Supplementation in a Randomized Controlled Pilot Trial Completed NCT00892476 Phase 1
5 A Single-Center, Non-Randomized Study of the Safety and Efficacy of In Utero Hematopoietic Stem Cell Transplantation for the Treatment of Fetuses With Alpha Thalassemia Major Recruiting NCT02986698 Phase 1
6 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Unknown status NCT02956564
7 Enhanced HCV Nonstructural Protein 3 (NS3) -Specific T Cell Proliferation,Interferon γ (IFNγ) and Interleukin-10 (IL-10) Secreting Clones, and Peripheral Blood Natural Killers T Cells ( NKT Cells) in Patients With Type I Gaucher Disease Infected With HCV : An Advantage in Anti Hepatitis Immunity? Unknown status NCT01274208
8 Femur Length to Mid-thigh Circumference Ratio in Prediction of IUGR Unknown status NCT01981824
9 Management of Supraventricular Tachycardia of Children Admitted to Assiut University Children Hospital(Clinical Audit) Unknown status NCT03528616 adenosine,Propranolol,flecainide, amiodarone, propranolol, digoxin and procainamide.
10 Cardiac Functions as a New Method for Evaluation of Fetal Anemia Pre and Post Intrauterine Fetal Blood Transfusion Unknown status NCT03169907
11 Estimation of Umbilical Venous Catheter Insertion Depth in Newborns Using Weight or Body Measurement: A Randomized Trial Completed NCT02939690
12 Effects of Sustained Inflation or Positive Pressure Ventilation on Release of Adrenomedullin in Preterm Infants With Respiratory Failure at Birth Completed NCT03437499
13 Identification of Early Predictors of Fetomaternal Hemorrhage And Development Of An Automated Screening Strategy For At-Risk Pregnancies Completed NCT01232387
14 Delayed Umbilical Cord Clamping in Elective Caesarean Section: What Are the Benefits Completed NCT03878602
15 Are Renal Artery Doppler Indices Different Between Monochorionic Diamniotic Twins With Twin-twin Transfusion Syndrome and Monochorionic Diamniotic Twins Without Twin-twin Transfusion Syndrome? Completed NCT03449823
16 Whole Exome Sequencing and Whole Genome Sequencing for Non-immune Fetal/Neonatal Hydrops Recruiting NCT03911531
17 Hydrops: Diagnosing & Redefining Outcomes With Precision Study Recruiting NCT03412760
18 Fetal Electrophysiologic Abnormalities in High-risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
19 FAST Trial Registry: Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
20 Exploring the Pathogenic Mechanisms Shared by Cancer and Cardiovasuclar Diseases Recruiting NCT03051191
21 Pilot Trial of Fetoscopic Endoluminal Tracheal Occlusion (FETO) in Fetuses With Severe Left Congenital Diaphragmatic Hernia (CDH) Recruiting NCT02710968
22 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298647
23 Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops Fetalis by Massively Parallel Sequencing Not yet recruiting NCT04308603
24 Treatment With Caffeine of Very Preterm Infant in the Delivery Room: the CAFROOM Feasibility Study Not yet recruiting NCT04044976 Caffeine Citrate
25 Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by Nonimmune Hydrops and Severe Symmetrical Intrauterine Growth Restriction-A Multicenter Prospective Pilot Cohort Study Terminated NCT00143039

Search NIH Clinical Center for Hydrops Fetalis, Nonimmune

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Genetic Tests for Hydrops Fetalis, Nonimmune

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Genetic tests related to Hydrops Fetalis, Nonimmune:

# Genetic test Affiliating Genes
1 Non-Immune Hydrops Fetalis 29
2 Hydrops Fetalis 29
Sources

Anatomical Context for Hydrops Fetalis, Nonimmune

About this section

MalaCards organs/tissues related to Hydrops Fetalis, Nonimmune:

40
Heart, Lung, Placenta, Testes, Liver, Brain, Bone
Sources

Publications for Hydrops Fetalis, Nonimmune

About this section

Articles related to Hydrops Fetalis, Nonimmune:

(show top 50) (show all 2224)
# Title Authors PMID Year
1
Non-immune hydrops fetalis: A prospective study of 53 cases. 56 61
24039125 2013
2
Etiology of nonimmune hydrops fetalis: a systematic review. 61 56
19334091 2009
3
A diagnostic flow chart for non-immune hydrops fetalis. 61 56
19334092 2009
4
Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. 61 56
9667408 1998
5
Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. 61 56
9516118 1998
6
Molecular defects in Hb H hydrops fetalis. 56 61
9029003 1997
7
Hydrops revisited: literature review of 1,414 cases published in the 1980s. 56 61
2688420 1989
8
Idiopathic hydrops fetalis report of 4 patients including 2 affected sibs. 56 61
7018238 1981
9
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. 6
25052315 2015
10
The inherited diseases of hemoglobin are an emerging global health burden. 56
20233970 2010
11
Global epidemiology of haemoglobin disorders and derived service indicators. 56
18568278 2008
12
Hb H hydrops foetalis syndrome: a case report and review of literature. 56
11722414 2001
13
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. 61 54
19394045 2009
14
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. 61 54
16965327 2006
15
Chicken egg yolk antibodies specific for the gamma chain of human hemoglobin for diagnosis of thalassemia. 61 54
16787871 2006
16
Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. 54 61
15908988 2005
17
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. 61 54
15214004 2004
18
A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. 61 54
15211660 2004
19
Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. 54 61
10441586 1999
20
Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse. 54 61
9774663 1998
21
Congenital sialidosis. 61 54
9763912 1998
22
Detection of zeta-globin chains in the cord blood by ELISA (enzyme-linked immunosorbent assay): rapid screening for alpha-thalassemia 1 (Southeast Asian type). 61 54
9544971 1998
23
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus. 54 61
9635296 1998
24
Incidence of the mucopolysaccharidoses in Northern Ireland. 61 54
9439667 1997
25
Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. 61 54
9155679 1997
26
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. 54 61
8644704 1996
27
Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings. 61 54
8831129 1996
28
Lethal alpha-thalassaemia created by gene targeting in mice and its genetic rescue. 61 54
7550311 1995
29
Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis. 61 54
8496396 1993
30
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes. 54 61
8111412 1993
31
Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis. 54 61
1833732 1991
32
Lysosomal storage diseases presenting as transient or persistent hydrops fetalis. 54 61
1799421 1991
33
Fetal arrhythmias: diagnosis and treatment. 61
30879368 2020
34
Nonimmune Hydrops Fetalis-Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review. 61
32521801 2020
35
Incidental Finding of Hydrops Fetalis in a Full-term Infant. 61
32482706 2020
36
Characterization and identification of Hb Bart's hydrops fetalis caused by a compound heterozygous mutation --SEA /--CR , a novel α0 -thalassemia deletion. 61
31943793 2020
37
Fetal mediastinal teratoma: Misinterpretation as congenital cystic lesions of the lung on prenatal ultrasound. 61
31859396 2020
38
Prenatal sonographic features of fetal mediastinal teratoma. 61
32506587 2020
39
Analysis of cystic hygroma diagnosed in the first trimester: Single-center experience 61
31298510 2020
40
Management of patients with rare blood groups in maternity. 61
31368389 2020
41
[A case of neonatal hereditary spherocytosis characterized by hydrops fetalis]. 61
32392960 2020
42
Management of haemoglobin Barts hydrops fetalis syndrome with exchange transfusions. 61
32431038 2020
43
Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia. 61
32144894 2020
44
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. 61
32134517 2020
45
Acute Peritoneal Dialysis in Premature Infants. 61
32444514 2020
46
Low mortality in fetal supraventricular tachycardia: Outcomes in a 30-year single-institution experience. 61
32100356 2020
47
New Insights of Human Parvovirus B19 in Modulating Erythroid Progenitor Cell Differentiation. 61
32412895 2020
48
Chromosomal abnormalities detected by karyotyping and microarray analysis in twins with structural anomalies. 61
30977228 2020
49
Nonimmune hydrops fetalis: Genetic analysis and clinical outcome. 61
32267001 2020
50
Hydrops fetalis and neonatal abdominal compartment syndrome continuum from immature gastric teratoma: a case report. 61
32340629 2020
Sources

Variations for Hydrops Fetalis, Nonimmune

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ClinVar genetic disease variations for Hydrops Fetalis, Nonimmune:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEU1 NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter)SNV Pathogenic 218332 rs746607723 6:31827574-31827574 6:31859797-31859797
2 NEU1 NM_000434.4(NEU1):c.353-2A>GSNV Pathogenic 218331 rs864309513 6:31829229-31829229 6:31861452-31861452
3 GUSB NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)SNV Pathogenic/Likely pathogenic 908 rs121918185 7:65439688-65439688 7:65974701-65974701
4 NEB NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter)SNV Pathogenic/Likely pathogenic 190457 rs769345284 2:152394412-152394412 2:151537898-151537898
5 CHRNA1 NM_001039523.3(CHRNA1):c.762C>T (p.Arg254=)SNV Likely pathogenic 190452 rs545520806 2:175618322-175618322 2:174753594-174753594
6 GALNT14 NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter)SNV Likely pathogenic 190462 rs201118996 2:31147092-31147092 2:30924226-30924226
7 GUSB NM_000181.4(GUSB):c.1586A>G (p.Tyr529Cys)SNV Likely pathogenic 190464 rs786205674 7:65432785-65432785 7:65967798-65967798
8 GUSB NM_000181.4(GUSB):c.398G>C (p.Trp133Ser)SNV Likely pathogenic 190460 rs786205671 7:65444897-65444897 7:65979910-65979910
9 GUSB NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)SNV Likely pathogenic 190463 rs786205673 7:65445300-65445300 7:65980313-65980313
10 FZD6 NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys)SNV Likely pathogenic 190461 rs786205672 8:104337203-104337203 8:103324975-103324975
11 THSD1 NM_018676.4(THSD1):c.670C>T (p.Arg224Ter)SNV Likely pathogenic 190465 rs9536062 13:52971718-52971718 13:52397583-52397583
12 THSD1 NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr)SNV Likely pathogenic 190456 rs786205669 13:52971771-52971771 13:52397636-52397636
13 UBN1 NM_001079514.3(UBN1):c.2356T>A (p.Leu786Met)SNV Likely pathogenic 190453 rs765004815 16:4924767-4924767 16:4874766-4874766
14 MYOM1 NM_003803.3(MYOM1):c.4987G>A (p.Val1663Met)SNV Likely pathogenic 190459 rs751200138 18:3067331-3067331 18:3067333-3067333
15 CTSA NM_000308.3(CTSA):c.649del (p.Leu217fs)deletion Likely pathogenic 190458 rs786205670 20:44521513-44521513 20:45892874-45892874
16 ATP1A2 NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)deletion Likely pathogenic 562228 rs1558008455 1:160105074-160105075 1:160135284-160135285
17 ATP1A2 NM_000702.4(ATP1A2):c.835del (p.Arg279fs)deletion Likely pathogenic 586989 rs1558005340 1:160097428-160097428 1:160127638-160127638
18 GUSB NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)SNV Likely pathogenic 894 rs121918173 7:65439613-65439613 7:65974626-65974626
19 PIGC NM_153747.2(PIGC):c.659T>C (p.Leu220Pro)SNV Likely pathogenic 190451 rs786205667 1:172411104-172411104 1:172441964-172441964
20 FLVCR2 GRCh37/hg19 14q24.3(chr14:76105695-76107636)copy number loss Uncertain significance 523310 14:76105695-76107636
21 JAK3 NM_000215.3(JAK3):c.2452G>A (p.Glu818Lys)SNV Uncertain significance 464099 rs374191135 19:17943637-17943637 19:17832828-17832828
22 FAT4 NM_001291303.1(FAT4):c.8588T>C (p.Phe2863Ser)SNV Uncertain significance 598984 rs1560614899 4:126370753-126370753 4:125449598-125449598
23 MYO18A NM_001346765.2(MYO18A):c.2989G>A (p.Ala997Thr)SNV Uncertain significance 634993 rs761772888 17:27437609-27437609 17:29110591-29110591
24 FAT4 NM_024582.4(FAT4):c.11687C>T (p.Ala3896Val)SNV Likely benign 514535 rs138275098 4:126373858-126373858 4:125452703-125452703
25 DNAH14 NM_001367479.1(DNAH14):c.3755T>A (p.Met1252Lys)SNV Benign 190455 rs786205668 1:225288474-225288474 1:225100772-225100772
Sources

Expression for Hydrops Fetalis, Nonimmune

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Search GEO for disease gene expression data for Hydrops Fetalis, Nonimmune.
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Pathways for Hydrops Fetalis, Nonimmune

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Pathways related to Hydrops Fetalis, Nonimmune according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Lysosome 36
11.6 NEU1 GUSB GBA
2
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.45 HBB HBA2 HBA1
3
Malaria 36
11.03 HBB HBA2 HBA1
4
African trypanosomiasis 36
10.7 HBB HBA2 HBA1
5
Other glycan degradation 36
10.62 NEU1 GBA
6
O2/CO2 exchange in erythrocytes 65
Show member pathways
 10.34 HBB HBA2 HBA1
Sources

GO Terms for Hydrops Fetalis, Nonimmune

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 NEU1 NEB HBB HBA2 HBA1 GUSB
2 extracellular region GO:0005576 9.97 THSD1 NEU1 HBB HBA2 HBA1 GUSB
3 lysosome GO:0005764 9.71 NEU1 GUSB GPC3 GBA
4 blood microparticle GO:0072562 9.61 HBB HBA2 HBA1
5 lysosomal lumen GO:0043202 9.56 NEU1 GUSB GPC3 GBA
6 endocytic vesicle lumen GO:0071682 9.33 HBB HBA2 HBA1
7 hemoglobin complex GO:0005833 9.13 HBB HBA2 HBA1
8 haptoglobin-hemoglobin complex GO:0031838 8.8 HBB HBA2 HBA1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.63 NEU1 GUSB GBA
2 receptor-mediated endocytosis GO:0006898 9.58 HBB HBA2 HBA1
3 cellular oxidant detoxification GO:0098869 9.54 HBB HBA2 HBA1
4 response to hydrogen peroxide GO:0042542 9.5 HBB HBA2 HBA1
5 positive regulation of glucose import GO:0046326 9.49 PTPN11 GPC3
6 glycosphingolipid metabolic process GO:0006687 9.48 NEU1 GBA
7 glycosaminoglycan catabolic process GO:0006027 9.43 GUSB GPC3
8 positive regulation of cell death GO:0010942 9.43 HBB HBA2 HBA1
9 bicarbonate transport GO:0015701 9.33 HBB HBA2 HBA1
10 hydrogen peroxide catabolic process GO:0042744 9.13 HBB HBA2 HBA1
11 oxygen transport GO:0015671 8.8 HBB HBA2 HBA1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.58 HBB HBA2 HBA1
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.54 NEU1 GUSB GBA
3 peroxidase activity GO:0004601 9.5 HBB HBA2 HBA1
4 oxygen binding GO:0019825 9.43 HBB HBA2 HBA1
5 oxygen carrier activity GO:0005344 9.33 HBB HBA2 HBA1
6 organic acid binding GO:0043177 9.13 HBB HBA2 HBA1
7 haptoglobin binding GO:0031720 8.8 HBB HBA2 HBA1
Sources

Sources for Hydrops Fetalis, Nonimmune

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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