Hydatidiform mole, recurrent, 1

Preferred Label : Hydatidiform mole, recurrent, 1;

Symbol : HYDM1;

CISMeF acronym : CHM; HYDM; HYDM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hydatidiform mole, complete; Hydatidiform mole; CHM; Gestational trophoblastic disease; HYDM;

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 Mole Another form of recurrent complete hydatidiform mole (HYDM2; 614293) is caused by mutation in the KDHC3L gene (611687) on chromosome 6q13.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NACHT domain-, leucine-rich repeat-, and PYD-containing protein-7 gene (NALP7, 609661.0001);

Prefixed ID : #231090;

Details

Origin ID

231090;

UMLS CUI

C3463897;

Automatic exact mappings (from CISMeF team)
- CHM Rab escort protein [ORDO Gene]
- Choroideremia [ORDO Disease]
- Classical hydatidiform mole [ICD-10 Sub-category]
- Gestational Trophoblastic Tumor [NCIt concept]
- Gestational trophoblastic disease [PASCAL descriptor]
- Gestational trophoblastic disease [ORDO Disease]
- Gestational trophoblastic disease (disorder) [SNOMED CT concept]
- Gestational trophoblastic disease (morphologic abnormality) [SNOMED CT concept]
- Gestational trophoblastic diseases [Vue CIM-11]
- Hydatidiform mole [HPO term]
- Hydatidiform mole NOS [ICD-9 code]
- Hydatidiform mole, NOS [ICD-11 Extension code]
- Hydatidiform mole, benign (disorder) [SNOMED CT concept]
- Mari Language [NCIt concept]
- NCI CTEP SDC Gestational Trophoblastic Disease Sub-Category Terminology [NCIt concept]
- benign/unspecified neoplasm related to pregnancy [ICPC-2 Rubric]
- gestational trophoblastic disease [MeSH Descriptor]
- gestational trophoblastic disease [MeSH concept]
- gestational trophoblastic neoplasm [DO Concept]
- tumors and pregnancy [MedlinePlus Topic]
Currated CISMeF NLP mapping
- 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 [WHO-ART Preferred Term]
- Hydatidiform Mole [NCIt concept]
- Hydatidiform mole [PASCAL descriptor]
- Hydatidiform mole [ICD-10 category]
- Hydatidiform mole [ICD-10 category (who)]
- Hydatidiform mole [ORDO Disease]
- Hydatidiform mole [MedDRA LLT]
- Hydatidiform mole [ICD-9 code]
- Hydatidiform mole NOS [MedDRA LLT]
- Hydatidiform mole, no International Classification of Diseases for Oncology subtype (morphologic abnormality) [SNOMED CT concept]
- hydatidiform mole [Disease (Nov.)]
- hydatidiform mole [MeSH Descriptor]
- hydatidiform mole [MeSH concept]
- hydatidiform mole [Radlex concept]
- hydatidiform mole, complete [MeSH concept]
- hydatidiform mole, nos [SNOMED Notion]
DO Cross reference
- gestational trophoblastic neoplasm [DO Concept]
Genes related to phenotype
- Nlr family, pyrin domain-containing 7 [OMIM gene]
HPO term(s)
- Abnormality of the genitourinary system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hydatidiform mole [HPO term]
ORDO concept(s)
- Complete hydatidiform mole [ORDO Disease]
- Hydatidiform mole [ORDO Disease]
See also inter- (CISMeF)
- gestational trophoblastic neoplasm [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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