Details of Disease

General Information of Disease (ID: DISXUJWE)

Disease Name Hydatidiform mole, recurrent, 1
Synonyms
hydatidiform MOLE, recurrent, 1; HYDM1; hydatidiform mole; gestational trophoblastic disease; hydatidiform Mole, complete; complete hydatidiform mole caused by mutation in NLRP7; NLRP7 complete hydatidiform mole; hydatidiform mole, recurrent, 1; hydatidiform Mole, recurrent, type 1
Definition Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.
Disease Hierarchy
DIS4EJNA: Gestational trophoblastic neoplasia
DIS5QPI0: Complete hydatidiform mole
DISXUJWE: Hydatidiform mole, recurrent, 1
Disease Identifiers
MONDO ID
MONDO_0009273
UMLS CUI
C3463897
OMIM ID
231090
MedGen ID
483038

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDKN1C TTBSUAR Strong Genetic Variation [1]
CHM TTOA18V Strong Genetic Variation [1]
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This Disease Is Related to 10 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CIB2 OT9ZJX1I Strong Altered Expression [2]
CNMD OTHND8EL Strong Biomarker [3]
CORO1A OTVAZOHC Strong Genetic Variation [1]
HPSE2 OTGEPP8V Strong Posttranslational Modification [4]
KRT31 OTB6RCAH Strong Biomarker [4]
NLRP7 OTE9BI32 Strong Autosomal recessive [5]
PLAGL1 OTZAO900 Strong Biomarker [6]
PSG5 OTHTU98X Strong Genetic Variation [7]
PSG6 OTUURZG3 Strong Altered Expression [7]
PSG8 OT00UZBM Strong Genetic Variation [7]
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⏷ Show the Full List of 10 DOT(s)

References

1 p57 in Hydatidiform Moles: Evaluation of Antibodies and Expression in Various Cell Types.Appl Immunohistochem Mol Morphol. 2020 Oct;28(9):694-701. doi: 10.1097/PAI.0000000000000807.
2 Abnormal villous morphology mimicking a hydatidiform mole associated with paternal trisomy of chromosomes 3,7,8 and unipaternal disomy of chromosome 11.Diagn Pathol. 2016 Feb 4;11:20. doi: 10.1186/s13000-016-0471-9.
3 HySA: a Hybrid Structural variant Assembly approach using next-generation and single-molecule sequencing technologies.Genome Res. 2017 May;27(5):793-800. doi: 10.1101/gr.214767.116. Epub 2017 Jan 19.
4 Relative levels of methylation in human growth hormone and chorionic somatomammotropin genes in expressing and non-expressing tissues.Nucleic Acids Res. 1982 Jun 11;10(11):3459-74. doi: 10.1093/nar/10.11.3459.
5 A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. Mol Hum Reprod. 2008 Jan;14(1):33-40. doi: 10.1093/molehr/gam079. Epub 2007 Nov 26.
6 Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes.Diabetologia. 2010 Nov;53(11):2347-51. doi: 10.1007/s00125-010-1853-2. Epub 2010 Jul 30.
7 Linkage of two human pregnancy-specific beta 1-glycoprotein genes: one is associated with hydatidiform mole.Proc Natl Acad Sci U S A. 1990 Aug;87(15):5822-6. doi: 10.1073/pnas.87.15.5822.