Hydatidiform mole, recurrent, 2

Preferred Label : Hydatidiform mole, recurrent, 2;

Symbol : HYDM2;

CISMeF acronym : HYDM2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hydatidiform mole, complete;

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 (231090).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in chromosome 6 open reading frame 221 gene (C6orf221, 611687.0001);

Prefixed ID : #614293;

Details

Origin ID

614293;

UMLS CUI

C3280352;

Automatic exact mappings (from CISMeF team)
- Classical hydatidiform mole [ICD-10 Sub-category]
- Complete Hydatidiform Mole [NCIt concept]
- Complete hydatidiform mole [ICD-11 Subcategory]
- Complete hydatidiform mole [ORDO Disease]
- Complete hydatidiform mole (disorder) [SNOMED CT concept]
- Hydatidiform mole, NOS [ICD-11 Extension code]
- Hydatidiform mole, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [SNOMED CT concept]
- hydatidiform mole [MeSH Descriptor]
- hydatidiform mole, complete [MeSH concept]
DO Cross reference
- coronary artery disease [DO Concept]
Genes related to phenotype
- Khdc3-like protein, subcortical maternal complex member [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hydatidiform mole [HPO term]
ORDO concept(s)
- Complete hydatidiform mole [ORDO Disease]
- Hydatidiform mole [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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