NIHF
MCID: HYD038
MIFTS: 62

Hydrops Fetalis, Nonimmune (NIHF)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Hydrops Fetalis, Nonimmune

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
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
Nihf 56
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:

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

Summaries for Hydrops Fetalis, Nonimmune

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 lysosomal storage disease, 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 Pharmaceutical Solutions and Rho(D) Immune Globulin have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and placenta, and related phenotypes are anemia and pallor

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...

Related Diseases for Hydrops Fetalis, Nonimmune

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

(show top 50) (show all 586)
# Related Disease Score Top Affiliating Genes
1 hemoglobin h disease 32.4 HBB HBA2 HBA1
2 lysosomal storage disease 30.5 NEU1 GUSB GBA
3 mucolipidosis ii alpha/beta 30.4 NEU1 GUSB
4 hemoglobinopathy 30.4 HBB HBA2 HBA1
5 splenomegaly 30.3 HBA2 GBA
6 morquio syndrome 30.2 NEU1 GUSB
7 iron metabolism disease 30.2 HBB HBA2
8 primary lymphedema 30.1 FLT4 EPHB4
9 deficiency anemia 30.1 HBB HBA2 HBA1 GBA
10 hemoglobin zurich 30.1 HBB HBA2
11 immune hydrops fetalis 30.1 HBA1 GUSB GBA
12 beta-thalassemia 30.0 HBB HBA2 HBA1
13 alpha-thalassemia 30.0 HBB HBA2 HBA1
14 thalassemia 30.0 HBB HBA2 HBA1
15 microcytic anemia 29.9 HBB HBA2 HBA1
16 sickle cell disease 29.5 HBB HBA2
17 hemolytic anemia 29.4 HBB HBA2 HBA1
18 hydrops fetalis, nonimmune, with gracile bones and dysmorphism 12.7
19 obsolete: idiopathic hydrops fetalis 12.5
20 hyaline fibromatosis syndrome 12.0
21 mucopolysaccharidosis, type vii 12.0
22 lymphatic malformation 7 12.0
23 congenital disorder of glycosylation, type ia 11.8
24 transaldolase deficiency 11.8
25 teratoma 11.7
26 congenital dyserythropoietic anemia 11.7
27 glycoproteinosis 11.7
28 multiple pterygium syndrome, escobar variant 11.7
29 hennekam syndrome 11.7
30 lymphangiectasia, pulmonary, congenital 11.7
31 pyruvate kinase deficiency of red cells 11.7
32 gaucher disease, perinatal lethal 11.7
33 arterial calcification of infancy 11.7
34 achondrogenesis 11.7
35 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.7
36 short-rib thoracic dysplasia 12 11.7
37 free sialic acid storage disorders 11.7
38 glucose phosphate isomerase deficiency 11.7
39 hemifacial spasm 11.5
40 greenberg dysplasia 11.5
41 chondrodysplasia, blomstrand type 11.5
42 achondrogenesis, type ii 11.5
43 hypochondrogenesis 11.5
44 marburg hemorrhagic fever 11.4
45 porphyria, congenital erythropoietic 11.3
46 pyknoachondrogenesis 11.3
47 megalencephaly-capillary malformation-polymicrogyria syndrome 11.3
48 congenital disorder of glycosylation, type ih 11.3
49 fetal erythroblastosis 11.3
50 fetal parvovirus syndrome 11.3

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



Diseases related to Hydrops Fetalis, Nonimmune

Symptoms & Phenotypes for Hydrops Fetalis, Nonimmune

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 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
3 congestive heart failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001635
4 hydrops fetalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001789
5 abnormal hemoglobin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011902
6 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
7 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
8 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
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 adipose tissue MP:0005375 9.55 FLT4 GUSB NEB PTPN11 THSD1
2 integument MP:0010771 9.43 FLT4 GBA GPC3 GUSB NEU1 PTPN11
3 mortality/aging MP:0010768 9.28 EPHB4 FLT4 GBA GPC3 GUSB HBA2

Drugs & Therapeutics for Hydrops Fetalis, Nonimmune

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

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 Rho(D) Immune Globulin Phase 4
3 Antibodies Phase 4
4 gamma-Globulins Phase 4
5 Immunoglobulins Phase 4
6 Immunologic Factors Phase 4
7 Immunoglobulins, Intravenous Phase 4
8
Ibuprofen Approved Phase 2, Phase 3 15687-27-1 3672
9 Anti-Inflammatory Agents Phase 2, Phase 3
10 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
11 Analgesics, Non-Narcotic Phase 2, Phase 3
12 Cyclooxygenase Inhibitors Phase 2, Phase 3
13 Antirheumatic Agents Phase 2, Phase 3
14 Hormones Phase 1
15
Adenosine Approved, Investigational 58-61-7 60961
16
Amiodarone Approved, Investigational 1951-25-3 2157
17
Digoxin Approved 20830-75-5 30322 2724385
18
Propranolol Approved, Investigational 525-66-6 4946
19
Procainamide Approved 51-06-9 4913
20
Sodium citrate Approved, Investigational 68-04-2
21
Caffeine Approved 58-08-2 2519
22
Ferrous fumarate Approved 141-01-5
23
Calcium Approved, Nutraceutical 7440-70-2 271
24
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
25
Imidacloprid Vet_approved 105827-78-9 86418
26 interferons
27 Interferon-gamma
28 Respiratory System Agents
29 Anti-Asthmatic Agents
30 Autonomic Agents
31 Bronchodilator Agents
32 adrenomedullin
33 Anti-Arrhythmia Agents
34 Calcium, Dietary
35 Protective Agents
36 Vasodilator Agents
37 Antihypertensive Agents
38 Analgesics
39 Neurotransmitter Agents
40 Cytochrome P-450 CYP3A Inhibitors
41 Adrenergic Antagonists
42 Adrenergic beta-Antagonists
43 Cytochrome P-450 Enzyme Inhibitors
44 Sodium Channel Blockers
45 Potassium Channel Blockers
46 Diuretics, Potassium Sparing
47 Adrenergic Agents
48 Cytochrome P-450 CYP1A2 Inhibitors
49 Cytochrome P-450 CYP2C9 Inhibitors
50 Cytochrome P-450 CYP2D6 Inhibitors

Interventional clinical trials:

(show all 24)
# 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 Cardiac Functions as a New Method for Evaluation of Fetal Anemia Pre and Post Intrauterine Fetal Blood Transfusion Unknown status NCT03169907
10 Estimation of Umbilical Venous Catheter Insertion Depth in Newborns Using Weight or Body Measurement: A Randomized Trial Completed NCT02939690
11 Effects of Sustained Inflation or Positive Pressure Ventilation on Release of Adrenomedullin in Preterm Infants With Respiratory Failure at Birth Completed NCT03437499
12 Identification of Early Predictors of Fetomaternal Hemorrhage And Development Of An Automated Screening Strategy For At-Risk Pregnancies Completed NCT01232387
13 Delayed Umbilical Cord Clamping in Elective Caesarean Section: What Are the Benefits Completed NCT03878602
14 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
15 Whole Exome Sequencing and Whole Genome Sequencing for Non-immune Fetal/Neonatal Hydrops Recruiting NCT03911531
16 Hydrops: Diagnosing & Redefining Outcomes With Precision Study Recruiting NCT03412760
17 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298647
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 Management of Supraventricular Tachycardia of Children Admitted to Assiut University Children Hospital(Clinical Audit) Not yet recruiting NCT03528616 adenosine,Propranolol,flecainide, amiodarone, propranolol, digoxin and procainamide.
23 Treatment With Caffeine of Very Preterm Infant in the Delivery Room: the CAFROOM Feasibility Study Not yet recruiting NCT04044976 Caffeine Citrate
24 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

Genetic Tests for Hydrops Fetalis, Nonimmune

Genetic tests related to Hydrops Fetalis, Nonimmune:

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

Anatomical Context for Hydrops Fetalis, Nonimmune

MalaCards organs/tissues related to Hydrops Fetalis, Nonimmune:

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

Publications for Hydrops Fetalis, Nonimmune

Articles related to Hydrops Fetalis, Nonimmune:

(show top 50) (show all 2192)
# Title Authors PMID Year
1
Non-immune hydrops fetalis: A prospective study of 53 cases. 61 56
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. 56 61
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. 61 56
2688420 1989
8
Idiopathic hydrops fetalis report of 4 patients including 2 affected sibs. 61 56
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. 61 54
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). 54 61
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. 54 61
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. 61 54
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. 54 61
7550311 1995
29
Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis. 54 61
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
Hydrops fetalis in a cohort of 3,137 stillbirths and second trimester miscarriages. 61
31512356 2019
34
Electrophoresis features and genotypes of Hb bart's hydrops fetalis. 61
31841045 2019
35
Hydrops fetalis caused by congenital syphilis: An ancient disease? 61
31739773 2019
36
Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus. 61
31811808 2019
37
Infantile onset Pompe disease presenting with non-immune hydrops fetalis. 61
31467850 2019
38
INI1 negative sarcoma diagnosed as malignant rhabdoid tumor presenting as hydrops fetalis metastatic to the placenta: a case report and review of the literature on congenital sarcomas. 61
31718365 2019
39
Congenital erythropoietic porphyria: Recent advances. 61
30685241 2019
40
Prenatally Diagnosed Congenital Ventricular Outpouchings: An Institutional Experience and Review of the Literature. 61
31728571 2019
41
Prevalence and risk factors for hearing loss in high-risk neonates in Germany. 61
31074050 2019
42
Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey. 61
31727109 2019
43
Outcome of Pregnancies Diagnosed with TRAP Sequence Prenatally: A Single-Centre Experience. 61
31770756 2019
44
Sotalol as an effective adjunct therapy in the management of supraventricular tachycardia induced fetal hydrops fetalis. 61
31707376 2019
45
NT-proBNP: A Useful Biochemical Marker for Prognosis in Rh-Isoimmunized Pregnancies. 61
31686745 2019
46
Case 3: Hydrops Fetalis, Pancytopenia, and Hemolytic Jaundice in a Preterm Neonate: A Diagnosis Made After 3 Months. 61
31575783 2019
47
Molecular characteristics of thalassemia and hemoglobin variants in prenatal diagnosis program in northern Thailand. 61
31240559 2019
48
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. 61
31040167 2019
49
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. 61
31136762 2019
50
[Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy]. 61
31598953 2019

Variations for Hydrops Fetalis, Nonimmune

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 20:44521514-44521514 20:45892875-45892875
16 PIGC NM_153747.2(PIGC):c.659T>C (p.Leu220Pro)SNV Likely pathogenic 190451 rs786205667 1:172411104-172411104 1:172441964-172441964
17 GUSB NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)SNV Likely pathogenic 894 rs121918173 7:65439613-65439613 7:65974626-65974626
18 ATP1A2 NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)deletion Likely pathogenic 562228 rs1558008455 1:160105074-160105075 1:160135284-160135285
19 ATP1A2 NM_000702.4(ATP1A2):c.835del (p.Arg279fs)deletion Likely pathogenic 586989 rs1558005340 1:160097428-160097428 1:160127638-160127638
20 MYO18A NM_001346765.2(MYO18A):c.2989G>A (p.Ala997Thr)SNV Uncertain significance 634993 rs761772888 17:27437609-27437609 17:29110591-29110591
21 FAT4 NM_001291303.1(FAT4):c.8588T>C (p.Phe2863Ser)SNV Uncertain significance 598984 rs1560614899 4:126370753-126370753 4:125449598-125449598
22 FLVCR2 GRCh37/hg19 14q24.3(chr14:76105695-76107636)copy number loss Uncertain significance 523310 14:76105695-76107636
23 JAK3 NM_000215.3(JAK3):c.2452G>A (p.Glu818Lys)SNV Uncertain significance 464099 rs374191135 19:17943637-17943637 19:17832828-17832828
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

Expression for Hydrops Fetalis, Nonimmune

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

Pathways for Hydrops Fetalis, Nonimmune

GO Terms for Hydrops Fetalis, Nonimmune

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 cytosolic small ribosomal subunit GO:0022627 9.46 HBA2 HBA1
7 endocytic vesicle lumen GO:0071682 9.33 HBB HBA2 HBA1
8 hemoglobin complex GO:0005833 9.13 HBB HBA2 HBA1
9 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 glycosphingolipid metabolic process GO:0006687 9.49 NEU1 GBA
6 positive regulation of glucose import GO:0046326 9.48 PTPN11 GPC3
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 for Hydrops Fetalis, Nonimmune

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
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