HYDATIDIFORM MOLE, RECURRENT, 2

General Information (adopted from Orphanet):

Synonyms, Signs: HYDATIDIFORM MOLE, COMPLETE
HYDM2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614293
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
2
(OMIM) Gestational trophoblastic disease 2 / 7739
3
(OMIM) Hydatidiform mole, biparental complete 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Judson et al. (2002) studied the sixth molar pregnancy of the index case in a biparental complete hydatidiform mole family with complex consanguinity, originating from the Mirpur region of Pakistan. The authors demonstrated biparental origin of the complete ...
Molecular genetics OMIM In the multiply consanguineous Pakistani family with biparental recurrent hydatidiform mole reported by Judson et al. (2002), Parry et al. (2011) performed a homozygosity scan and identified a mutation in the initiation codon of the C6ORF221 gene (611687.0001). ...