Details of Disease

General Information of Disease (ID: DISPUY8C)

Disease Name Non-immune hydrops fetalis
Synonyms
NIHF; Hemoglobin H hydrops fetalis syndrome; Haemoglobin H hydrops fetalis syndrome; hydrops fetalis, Alpha-thalassemia-related; hydrops fetalis, nonimmune; non-immune HF; non-immune fetal edema; non-immune foetal oedema; non-immune foetal hydrops; non-immune fetal hydrops
Definition
Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders.
Disease Hierarchy
DISD9BBF: Hydrops fetalis
DISPUY8C: Non-immune hydrops fetalis
Disease Identifiers
MONDO ID
MONDO_0009369
MESH ID
D015160
UMLS CUI
C0455988
OMIM ID
236750
MedGen ID
105327
HPO ID
HP:0001790
Orphanet ID
363999
SNOMED CT ID
206538000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 7 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GUSB TTHS7CM Limited Genetic Variation [1]
CALCRL TTY6O0Q Strong Genetic Variation [2]
CHRNA1 TT54JVQ Strong Genetic Variation [3]
CTSA TT5NILS Strong Genetic Variation [3]
EPHB4 TTI4ZX2 Strong Genetic Variation [4]
HBA2 TTQO71U Strong Biomarker [5]
MGAT2 TTJOW1I Strong Genetic Variation [6]
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⏷ Show the Full List of 7 DTT(s)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PMM2 DEBRX3L Strong Biomarker [6]
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This Disease Is Related to 17 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NEU1 OTH9BY8Y Limited Genetic Variation [7]
AARS2 OTOB0KSG Strong Genetic Variation [8]
ALG1 OTVXPA9E Strong Genetic Variation [6]
ALG8 OTMFG2YY Strong Genetic Variation [6]
ALG9 OT5V9PIR Strong Genetic Variation [6]
ASAH1 OT1DNGXL Strong Biomarker [9]
C1orf105 OTALIGHW Strong Genetic Variation [3]
CCBE1 OTO4UIDB Strong Biomarker [10]
COG6 OTDLQITC Strong Genetic Variation [6]
FZD6 OTBCPII8 Strong Genetic Variation [3]
GALNT14 OT9BSDDQ Strong Genetic Variation [3]
HBA1 OTW2BQF4 Strong Biomarker [11]
MYOM1 OTWALWGY Strong Genetic Variation [3]
NEB OT7P9IR3 Strong Genetic Variation [3]
PIEZO1 OTBG1FU4 Strong Genetic Variation [12]
PIGC OTDFW5KH Strong Genetic Variation [3]
THSD1 OTKPGFHS Definitive Autosomal recessive [3]
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⏷ Show the Full List of 17 DOT(s)

References

1 Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey.Orphanet J Rare Dis. 2019 Nov 14;14(1):254. doi: 10.1186/s13023-019-1233-z.
2 hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. J Exp Med. 2018 Sep 3;215(9):2339-2353. doi: 10.1084/jem.20180528. Epub 2018 Aug 16.
3 Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. Genome Biol. 2015 Jun 3;16(1):116. doi: 10.1186/s13059-015-0681-6.
4 Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. Brain. 2018 Apr 1;141(4):979-988. doi: 10.1093/brain/awy020.
5 Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T?C).Hemoglobin. 2016;40(2):97-101. doi: 10.3109/03630269.2015.1126721. Epub 2016 Jan 13.
6 Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.J Inherit Metab Dis. 2020 Mar;43(2):223-233. doi: 10.1002/jimd.12162. Epub 2019 Nov 8.
7 Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.J Perinatol. 2005 Jul;25(7):491-4. doi: 10.1038/sj.jp.7211335.
8 Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.J Perinat Med. 2018 Nov 27;46(9):968-974. doi: 10.1515/jpm-2017-0124.
9 [Disseminated lipogranulomatosis (Farber disease) with hydrops fetalis].Pathologe. 1996 Mar;17(2):145-9. doi: 10.1007/s002920050148.
10 Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.Hum Genet. 2010 Feb;127(2):231-41. doi: 10.1007/s00439-009-0766-y. Epub 2009 Nov 13.
11 Rapid prenatal diagnosis of common beta-thalassemia mutations in Southeast Asia using pyrosequencing.Prenat Diagn. 2013 Nov;33(11):1017-22. doi: 10.1002/pd.4183. Epub 2013 Jul 21.
12 Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.Nat Commun. 2019 Apr 26;10(1):1951. doi: 10.1038/s41467-019-09905-4.