Hydatidiform Mole, Recurrent, 1; Hydm1

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013). Genetic Heterogeneity of Recurrent Hydatidiform MoleAnother form of recurrent complete hydatidiform mole (HYDM2 ) is caused by mutation in the KHDC3L gene (OMIM ) on chromosome 6q13.

Genes related to Hydatidiform Mole, Recurrent, 1; Hydm1

NLRP7

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Clinical Features

Phenotypes and symptoms related to Hydatidiform Mole, Recurrent, 1; Hydm1

Neoplasm
Nevus
Abnormality of the genitourinary system
Choriocarcinoma

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Hydatidiform Mole, Recurrent, 1; Hydm1 Is also known as hydatidiform mole, complete, gestational trophoblastic disease, hydatidiform mole, chm, hydm.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hydatidiform Mole, Recurrent, 1; Hydm1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NLRP7. By Institute for Human Genetics University Clinic Freiburg (Germany). NLRP7 Specificity 100 % Genes 100 %
NLRP7. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). NLRP7 Specificity 100 % Genes 100 %
Hydatidiform Mole (sequence analysis of NLRP7 gene). By CGC Genetics (Portugal). NLRP7 Specificity 100 % Genes 100 %
Autoinflammatory panel. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). SH3BP2, TNFRSF1A, LPIN2, IL36RN, NLRP3, NCSTN, NLRP12, NLRP7, PSENEN, NOD2, IL10, IL10RA, IL10RB, IL1RN, MEFV, MVK, PLCG2, PSMB8, PSTPIP1 Specificity 6 % Genes 100 %
Hydatidiform mole. By Centogene AG - the Rare Disease Company (Germany). NLRP7 Specificity 100 % Genes 100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States). RMRP, BCS1L, RS1, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC19A2, SLC22A5, SLC26A2, SMN1, SMPD1, BTD, TH, TTPA, TYR , (...) View the complete list with 127 more genes Panel complete gene list RMRP, BCS1L, RS1, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC19A2, SLC22A5, SLC26A2, SMN1, SMPD1, BTD, TH, TTPA, TYR, CLRN1, VWF, CCN6, WRN, MCOLN1, NPHS2, PCDH15, CAPN3, CBS, PANK2, MLC1, LIPH, CFTR, MMAA, POMGNT1, MMAB, CHM, TPP1, CLN3, CLN5, CLN8, CNGB3, VPS13B, NLRP7, CPT1A, CPT2, TTC37, GNE, MMACHC, TMEM216, CTNS, CTSC, CTSK, CYP1B1, CYP21A2, BBS10, DBT, DHCR7, EDAR, DLD, DMD, GNPTAB, DPYD, AGA, AGL, AGXT, F11, F9, FAH, FANCC, AIRE, FKTN, FH, FMR1, ALDH3A2, G6PC, G6PD, SLC37A4, GAA, GALC, GALNS, GALT, ALDOB, GBA, GCDH, GHRHR, GJB2, GJB6, GLA, GLB1, ALPL, GP1BB, GP9, GRHPR, GUSB, HADHA, HBA1, HBA2, HBB, HEXA, HEXB, HFE, HMOX1, HSD17B4, IDS, IDUA, ABCC8, ELP1, IVD, LAMA3, LAMB3, LAMC2, MAN2B1, MECP2, MEFV, ARSA, ARSB, MPI, ASL, MMUT, ASPA, ASS1, NAGLU, NBN, NEB, NPHS1, ATM, OPA3, OTC, PAH, ATP7B, SLC26A4, PEX1, PEX7, ACADM, SERPINA1, ACADS, PKHD1, PMM2, ACADVL, ACAT1, PPT1, PROP1, BBS1, PYGM, BCKDHA, BCKDHB Specificity 1 % Genes 100 %
NLRP7. By Fulgent Genetics Fulgent Genetics (United States). NLRP7 Specificity 100 % Genes 100 %
Hydatidiform mole. By Bioarray (Spain). NLRP7 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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