Premature ovarian failure 1

Preferred Label : Premature ovarian failure 1;

Symbol : POF1;

CISMeF acronym : POF; POFX; POF1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypergonadotropic ovarian failure, X-linked; POFX; Premature ovarian failure, X-linked; Ovarian failure, premature; Primary ovarian insufficiency, fragile X-associated; POF; Fragile X premature ovarian failure;

Description : Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, 233300) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). - Genetic Heterogeneity of Premature Ovarian Failure Mutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (300511) by mutation in the DIAPH2 gene (300108) and POF2B (300604) by mutation in the POF1B gene (300603). See also POF3 (608996), which can be caused by mutation in the FOXL2 gene (605597), POF4 (see 300510), which can be caused by mutation in the BMP15 gene (300247), POF5 (611548), which can be caused by mutation in the NOBOX gene (610934), POF6 (612310), which can be caused by mutation in the FIGLA gene (608697), and POF7 (612964), which is caused by mutation in the NR5A1 gene (184757).;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the FMR1 gene (FMR1, 309550.0004);

Prefixed ID : #311360;

Details

Origin ID

311360;

UMLS CUI

C4552079;

Automatic exact mappings (from CISMeF team)
- Diaphanous homolog 2 (Drosophila) [ORDO Gene]
- Premature ovarian failure, 1B [ORDO Gene]
- peripheral odontogenic fibroma [SNOMED Notion]
- postcommissural fornix of brain [UBERON concept]
- symbol withdrawn POF1 [HGNC gene]
Broader ORDO disease(s)
- Primary ovarian failure [ORDO Disease]
Currated CISMeF NLP mapping
- Premature Menopause [NCIt concept]
- Premature Ovarian Failure [NCIt concept]
- Premature ovarian failure [ICD-11 Subcategory]
- Premature ovarian failure [MedDRA LLT]
- Premature ovarian failure (disorder) [SNOMED CT concept]
- Premature ovarian insufficiency [HPO term]
- Primary ovarian failure [ICD-10 Sub-category]
- Primary ovarian failure [ORDO Disease]
- Primary ovarian failure (disorder) [SNOMED CT concept]
- premature ovarian failure [Disease (Nov.)]
- primary ovarian failure [SNOMED Notion]
- primary ovarian insufficiency [DO Concept]
- primary ovarian insufficiency [MedlinePlus Topic]
- primary ovarian insufficiency [MeSH Descriptor]
- primary ovarian insufficiency [MeSH concept]
DO Cross reference
- primary ovarian insufficiency [DO Concept]
Genes related to phenotype
- Fragile X messenger ribonucleoprotein 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Increased circulating gonadotropin level [HPO term]
- Irregular menstruation [HPO term]
- Premature ovarian insufficiency [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Fragile X syndrome [ORDO Disease]
- Primary ovarian failure [ORDO Disease]
See also inter- (CISMeF)
- FMR1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fragile X-Associated Primary Ovarian Insufficiency [MeSH concept]
Validated automatic mappings to BTNT
- Fragile X-Associated Primary Ovarian Insufficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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