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NIHF
MCID: HYD038
MIFTS: 59

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 57 54 39
Hydrops Fetalis 20 58 29 54 6 71
Non-Immune Hydrops Fetalis 58 29 6 17
Nihf 57 58
Familial Non-Immune Hydrops Fetalis 20
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 20
Hydrops Fetalis Nonimmune 20
Hb Bart's Hydrops Fetalis 58
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®:

57 (Updated 05-Mar-2021)
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® 57 236750
ICD10 32 P56 P56.0 P56.9
MESH via Orphanet 45 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
GARD : 20 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 glycoproteinosis and multiple pterygium syndrome, escobar variant, and has symptoms including edema and peau d'orange. An important gene associated with Hydrops Fetalis, Nonimmune is FOXP3 (Forkhead Box P3), and among its related pathways/superpathways are Lysosome and Erythrocytes take up carbon dioxide and release oxygen. The drug Anti-Arrhythmia Agents has 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® : 57 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) (Updated 05-Mar-2021)

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 492)
# Related Disease Score Top Affiliating Genes
1 glycoproteinosis 31.8 NEU1 CTSA
2 multiple pterygium syndrome, escobar variant 31.7 RYR1 RAPSN CHRNA1
3 galactosialidosis 31.7 THSD1 NEU1 CTSA
4 mucopolysaccharidosis-plus syndrome 30.7 NEU1 GUSB CTSA
5 gangliosidosis 30.5 NEU1 CTSA
6 lysosomal storage disease 30.5 NEU1 GUSB CTSA
7 splenomegaly 30.4 HBA2 HBA1
8 multiple pterygium syndrome, lethal type 29.9 RYR1 RAPSN CHRNA1
9 hurler syndrome 29.9 NEU1 CTSA
10 immune hydrops fetalis 29.8 HBA2 HBA1 GUSB
11 mucopolysaccharidosis iv 29.8 GUSB CTSA
12 morquio syndrome 29.7 NEU1 GUSB CTSA
13 lymphatic malformation 7 11.7
14 alpha-thalassemia 11.4
15 hydrops fetalis, nonimmune, with gracile bones and dysmorphism 11.4
16 ephb4-related lymphatic-related hydrops fetalis 11.3
17 piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 11.3
18 congenital disorder of glycosylation, type ia 11.3
19 hemoglobin h disease 11.3
20 transaldolase deficiency 11.3
21 achondrogenesis, type ii 11.2
22 chondrodysplasia, blomstrand type 11.2
23 greenberg dysplasia 11.2
24 hypochondrogenesis 11.2
25 congenital dyserythropoietic anemia 11.2
26 free sialic acid storage disorders 11.2
27 hennekam syndrome 11.1
28 lymphangiectasia, pulmonary, congenital 11.1
29 pyruvate kinase deficiency of red cells 11.1
30 gaucher disease, perinatal lethal 11.1
31 arterial calcification of infancy 11.1
32 achondrogenesis 11.1
33 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.1
34 short-rib thoracic dysplasia 12 11.1
35 porphyria, congenital erythropoietic 11.1
36 pyknoachondrogenesis 11.1
37 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
38 congenital disorder of glycosylation, type ih 11.1
39 fetal erythroblastosis 11.1
40 fetal parvovirus syndrome 11.1
41 dyserythropoietic anemia and thrombocytopenia 11.1
42 lymphatic malformation 8 11.1
43 lethal congenital contracture syndrome 1 11.0
44 multiple pterygium syndrome, x-linked 11.0
45 nephrotic syndrome, type 14 11.0
46 combined oxidative phosphorylation deficiency 40 11.0
47 combined oxidative phosphorylation deficiency 41 11.0
48 lymphatic malformation 6 10.9
49 thalassemia 10.9
50 cystic lymphangioma 10.6

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 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Hydrops Fetalis, Nonimmune:


edema, peau d'orange

MGI Mouse Phenotypes related to Hydrops Fetalis, Nonimmune:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ATP1A2 CHRNA1 CTSA FOXP3 GALNT14 GUSB
2 integument MP:0010771 9.81 ATP1A2 CTSA FOXP3 FZD6 GUSB HBA2
3 mortality/aging MP:0010768 9.73 ATP1A2 CHRNA1 CTSA FOXP3 FZD6 GUSB
4 respiratory system MP:0005388 9.1 ATP1A2 CTSA FOXP3 NEU1 RAPSN RYR1
Sources

Drugs & Therapeutics for Hydrops Fetalis, Nonimmune

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Arrhythmia Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Unknown status NCT02956564
3 Hydrops: Diagnosing & Redefining Outcomes With Precision Study Recruiting NCT03412760
4 Whole Exome Sequencing and Whole Genome Sequencing for Non-immune Fetal/Neonatal Hydrops Recruiting NCT03911531
5 FAST Trial Registry: Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
6 Fetal Electrophysiologic Abnormalities in High-risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
7 Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops Fetalis by Massively Parallel Sequencing Not yet recruiting NCT04308603
8 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

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MalaCards organs/tissues related to Hydrops Fetalis, Nonimmune:

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

Publications for Hydrops Fetalis, Nonimmune

About this section

Articles related to Hydrops Fetalis, Nonimmune:

(show top 50) (show all 2257)
# Title Authors PMID Year
1
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. 57 61
33027564 2020
2
Non-immune hydrops fetalis: A prospective study of 53 cases. 61 57
24039125 2013
3
A diagnostic flow chart for non-immune hydrops fetalis. 61 57
19334092 2009
4
Etiology of nonimmune hydrops fetalis: a systematic review. 57 61
19334091 2009
5
Familial non-immune hydrops fetalis and congenital pulmonary lymphangiectasia. 61 57
9667408 1998
6
Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. 57 61
9516118 1998
7
Molecular defects in Hb H hydrops fetalis. 61 57
9029003 1997
8
Hydrops revisited: literature review of 1,414 cases published in the 1980s. 57 61
2688420 1989
9
Idiopathic hydrops fetalis report of 4 patients including 2 affected sibs. 57 61
7018238 1981
10
The inherited diseases of hemoglobin are an emerging global health burden. 57
20233970 2010
11
Global epidemiology of haemoglobin disorders and derived service indicators. 57
18568278 2008
12
Hb H hydrops foetalis syndrome: a case report and review of literature. 57
11722414 2001
13
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2. 54 61
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. 61 54
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. 54 61
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. 54 61
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. 54 61
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
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. 61
33547425 2021
34
Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing. 61
33382994 2021
35
Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis. 61
33569873 2021
36
Congenital Chylothorax and Hydrops Fetalis: A Novel Neonatal Presentation of RASA1 Mutation. 61
33608416 2021
37
The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings. 61
32981064 2021
38
Postnatal IVIG treatment for persistent anaemia in neonate due to congenital parvovirus infection. 61
33431449 2021
39
Human parvovirus B19: a review of clinical and epidemiological aspects in Brazil. 61
33438475 2021
40
Outcome of 45,X fetuses with cystic hygroma: A systematic review. 61
33026168 2021
41
Evaluation of Pulmonary Hypoplasia in Various Congenital Anomalies with a Comparison of Two Conventional Methods of Assessment: Radial Alveolar Count (RAC) and Lung Weight: Body Weight Ratio (LBW). 61
33432563 2021
42
Prenatal diagnosis of abdominal lymphatic malformations. 61
33494985 2021
43
A systematic review of monogenic etiologies of nonimmune hydrops fetalis. 61
33082562 2021
44
Outcomes of haemoglobin Bart's hydrops fetalis following intrauterine transfusion in Ontario, Canada. 61
32616558 2021
45
Persistence of SARS-CoV-2 in the first trimester placenta leading to transplacental transmission and fetal demise from an asymptomatic mother. 61
33346816 2020
46
Identification and management of congenital parvovirus B19 infection. 61
32860469 2020
47
Comprehensive screening for coexisting heterozygous α0-thalassemia in hemoglobin E trait. 61
32633642 2020
48
Challenges in chronic transfusion for patients with thalassemia. 61
33275743 2020
49
Rare Case of Fetal Permanent Junctional Reciprocating Tachycardia Refractory to Prenatal Antiarrhythmic Therapy. 61
33367217 2020
50
Prenatal Treatment of Congenital Cytomegalovirus With Valganciclovir: A Case Report. 61
32198512 2020
Sources

Variations for Hydrops Fetalis, Nonimmune

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ClinVar genetic disease variations for Hydrops Fetalis, Nonimmune:

6 (show all 45)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC26A3 NM_000111.3(SLC26A3):c.2006C>A (p.Ser669Ter) SNV Pathogenic 978616 7:107414366-107414366 7:107773921-107773921
2 RAPSN NM_005055.5(RAPSN):c.1146C>A (p.Cys382Ter) SNV Pathogenic 978660 11:47460303-47460303 11:47438752-47438752
3 RAPSN NM_005055.5(RAPSN):c.149_153delinsAGATGGGCCGCTACAAGGAGATGG (p.Val50fs) Indel Pathogenic 430474 rs1131691986 11:47470364-47470368 11:47448812-47448816
4 NEU1 NM_000434.4(NEU1):c.353-2A>G SNV Pathogenic 218331 rs864309513 6:31829229-31829229 6:31861452-31861452
5 NEU1 NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter) SNV Pathogenic 218332 rs746607723 6:31827574-31827574 6:31859797-31859797
6 RYR1 NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) SNV Pathogenic 159856 rs200563280 19:38987106-38987106 19:38496466-38496466
7 FOXP3 NM_014009.3(FOXP3):c.1189C>T (p.Arg397Trp) SNV Pathogenic 11407 rs28935477 X:49107902-49107902 X:49251441-49251441
8 SLC26A3 NM_000111.3(SLC26A3):c.1000G>T (p.Glu334Ter) SNV Pathogenic 978618 7:107423769-107423769 7:107783324-107783324
9 L1CAM NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) SNV Pathogenic 9993 rs137852522 X:153128311-153128311 X:153862856-153862856
10 SLC26A3 NM_000111.3(SLC26A3):c.269_270dup Duplication Pathogenic 55994 rs386833476 7:107434187-107434188 7:107793742-107793743
11 SLC30A5 NM_022902.5(SLC30A5):c.832_836del (p.Ile278fs) Deletion Likely pathogenic 976212 5:68411799-68411803 5:69115972-69115976
12 SLC30A5 NM_022902.5(SLC30A5):c.1981_1982del (p.His661fs) Deletion Likely pathogenic 988899 5:68419234-68419235 5:69123407-69123408
13 NEB NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) SNV Likely pathogenic 190457 rs769345284 2:152394412-152394412 2:151537898-151537898
14 GUSB NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) SNV Likely pathogenic 190463 rs786205673 7:65445300-65445300 7:65980313-65980313
15 GUSB NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) SNV Likely pathogenic 894 rs121918173 7:65439613-65439613 7:65974626-65974626
16 UBN1 NM_001079514.3(UBN1):c.2356T>A (p.Leu786Met) SNV Likely pathogenic 190453 rs765004815 16:4924767-4924767 16:4874766-4874766
17 CHRNA1 NM_001039523.3(CHRNA1):c.762C>T (p.Arg254=) SNV Likely pathogenic 190452 rs545520806 2:175618322-175618322 2:174753594-174753594
18 C1orf105 NM_153747.2(PIGC):c.659T>C (p.Leu220Pro) SNV Likely pathogenic 190451 rs786205667 1:172411104-172411104 1:172441964-172441964
19 THSD1 NM_018676.4(THSD1):c.670C>T (p.Arg224Ter) SNV Likely pathogenic 190465 rs9536062 13:52971718-52971718 13:52397583-52397583
20 GUSB NM_000181.4(GUSB):c.1586A>G (p.Tyr529Cys) SNV Likely pathogenic 190464 rs786205674 7:65432785-65432785 7:65967798-65967798
21 GALNT14 NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter) SNV Likely pathogenic 190462 rs201118996 2:31147092-31147092 2:30924226-30924226
22 GUSB NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) SNV Likely pathogenic 908 rs121918185 7:65439688-65439688 7:65974701-65974701
23 FZD6 NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) SNV Likely pathogenic 190461 rs786205672 8:104337203-104337203 8:103324975-103324975
24 GUSB NM_000181.4(GUSB):c.398G>C (p.Trp133Ser) SNV Likely pathogenic 190460 rs786205671 7:65444897-65444897 7:65979910-65979910
25 MYOM1 NM_003803.3(MYOM1):c.4987G>A (p.Val1663Met) SNV Likely pathogenic 190459 rs751200138 18:3067331-3067331 18:3067333-3067333
26 CTSA NM_000308.3(CTSA):c.649del (p.Leu217fs) Deletion Likely pathogenic 190458 rs786205670 20:44521513-44521513 20:45892874-45892874
27 THSD1 NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) SNV Likely pathogenic 190456 rs786205669 13:52971771-52971771 13:52397636-52397636
28 ATP1A2 NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) Deletion Likely pathogenic 562228 rs1558008455 1:160105074-160105075 1:160135284-160135285
29 ATP1A2 NM_000702.4(ATP1A2):c.835del (p.Arg279fs) Deletion Likely pathogenic 586989 rs1558005340 1:160097428-160097428 1:160127638-160127638
30 RYR1 NM_000540.3(RYR1):c.2286del (p.Val763fs) Deletion Likely pathogenic 978662 19:38949901-38949901 19:38459261-38459261
31 FOXP3 NM_014009.4(FOXP3):c.1117TTC[1] (p.Phe374del) Microsatellite Likely pathogenic 978636 X:49108149-49108151 X:49251688-49251690
32 PIEZO1 NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs) Deletion Likely pathogenic 978651 16:88802576-88802577 16:88736168-88736169
33 PIEZO1 NM_001142864.4(PIEZO1):c.4610_4617dup (p.Ser1540delinsAlaProTer) Duplication Likely pathogenic 978652 16:88789295-88789296 16:88722887-88722888
34 PIEZO1 NM_001142864.4(PIEZO1):c.4519G>C (p.Val1507Leu) SNV Uncertain significance 978653 16:88789394-88789394 16:88722986-88722986
35 PIEZO1 NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg) SNV Uncertain significance 978654 16:88788696-88788696 16:88722288-88722288
36 PIEZO1 NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu) SNV Uncertain significance 978649 16:88793562-88793562 16:88727154-88727154
37 PIEZO1 NM_001142864.4(PIEZO1):c.7184C>T (p.Ala2395Val) SNV Uncertain significance 978650 16:88782473-88782473 16:88716065-88716065
38 CHRNA1 NM_000079.4(CHRNA1):c.119G>A (p.Arg40Gln) SNV Uncertain significance 978631 2:175624286-175624286 2:174759558-174759558
39 MYO18A NM_078471.4(MYO18A):c.2932G>A (p.Ala978Thr) SNV Uncertain significance 634993 rs761772888 17:27437609-27437609 17:29110591-29110591
40 RASA1 NM_002890.3(RASA1):c.1900C>T (p.Gln634Ter) SNV Uncertain significance 978661 5:86670103-86670103 5:87374286-87374286
41 FLVCR2 GRCh37/hg19 14q24.3(chr14:76105695-76107636) copy number loss Uncertain significance 523310 14:76105695-76107636
42 JAK3 NM_000215.3(JAK3):c.2452G>A (p.Glu818Lys) SNV Uncertain significance 464099 rs374191135 19:17943637-17943637 19:17832828-17832828
43 FAT4 NM_001291303.1(FAT4):c.8588T>C (p.Phe2863Ser) SNV Uncertain significance 598984 rs1560614899 4:126370753-126370753 4:125449598-125449598
44 FAT4 NM_024582.4(FAT4):c.11687C>T (p.Ala3896Val) SNV Likely benign 514535 rs138275098 4:126373858-126373858 4:125452703-125452703
45 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.
Sources

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
11.24 NEU1 GUSB CTSA
2
Erythrocytes take up carbon dioxide and release oxygen 65
Show member pathways
 10.7 HBA2 HBA1
3
Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics 60
9.7 RYR1 CHRNA1
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 membrane GO:0016020 9.47 THSD1 SLC26A3 RYR1 RAPSN NEU1 L1CAM
2 lysosomal lumen GO:0043202 9.33 NEU1 GUSB CTSA
3 endocytic vesicle lumen GO:0071682 9.32 HBA2 HBA1
4 hemoglobin complex GO:0005833 9.26 HBA2 HBA1
5 haptoglobin-hemoglobin complex GO:0031838 8.96 HBA2 HBA1

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

# Name GO ID Score Top Affiliating Genes
1 hydrogen peroxide catabolic process GO:0042744 9.26 HBA2 HBA1
2 synaptic transmission, cholinergic GO:0007271 9.16 RAPSN CHRNA1
3 oxygen transport GO:0015671 8.96 HBA2 HBA1
4 bicarbonate transport GO:0015701 8.8 SLC26A3 HBA2 HBA1

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

# Name GO ID Score Top Affiliating Genes
1 oxygen binding GO:0019825 9.26 HBA2 HBA1
2 oxygen carrier activity GO:0005344 9.16 HBA2 HBA1
3 organic acid binding GO:0043177 8.96 HBA2 HBA1
4 haptoglobin binding GO:0031720 8.62 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
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
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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