Hydatidiform Mole, Recurrent, 2; Hydm2

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).For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Hydatidiform Mole, Recurrent, 2; Hydm2

  • Nevus

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Hydatidiform Mole, Recurrent, 2; Hydm2 Is also known as hydatidiform mole, complete.

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.


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Hydatidiform Mole, Recurrent, 2; Hydm2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
KHDC3L. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KHDC3L
Specificity
100 %
Genes
100 %
Hydatidiform mole, recurrent 2 (sequence analysis of KHDC3L gene).

By CGC Genetics (Portugal).

KHDC3L
Specificity
100 %
Genes
100 %
Hydatidiform mole.

By Centogene AG - the Rare Disease Company (Germany).

KHDC3L
Specificity
100 %
Genes
100 %
KHDC3L.

By Fulgent Genetics Fulgent Genetics (United States).

KHDC3L
Specificity
100 %
Genes
100 %
Hydatidiform mole, recurrent, 2.

By Bioarray (Spain).

KHDC3L
Specificity
100 %
Genes
100 %
HYDATIDIFORM MOLE.

By Laboratorio de Genetica Clinica SL (Spain).

NLRP7, KHDC3L
Specificity
50 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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