Spermatogenic failure 6

Preferred Label : Spermatogenic failure 6;

Symbol : SPGF6;

CISMeF acronym : SPGF6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GLOBOZOOSPERMIA; Round-headed spermatozoa; Spermatozoa, round-headed; Acrosome malformation of spermatozoa;

Description : The acrosome is a unique structure of the mature spermatozoon, which plays an important role at the site of sperm-zonapellucida binding during the fertilization process. Globozoospermia (also called round-headed spermatozoa) is a human infertility syndrome caused by spermatogenesis defects (Lalonde et al., 1988, Singh, 1992). The most prominent feature of globozoospermia is the malformation of the acrosome and, in the most severe cases, the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon (Battaglia et al., 1997).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the spermatogenesis-associated protein 16 gene (SPATA16, 609856.0001);

Prefixed ID : #102530;

Details

Origin ID

102530;

UMLS CUI

C4225503;

Automatic exact mappings (from CISMeF team)
- Spermatozoa Round Head [LOINC component]
- Teratozoospermia [MeSH Descriptor]
Currated CISMeF NLP mapping
- Globozoospermia [HPO term]
- Globozoospermia [MeSH concept]
- Globozoospermia [NCIt concept]
- Globozoospermia (disorder) [SNOMED CT concept]
- Male infertility due to globozoospermia [ORDO Disease]
- globozoospermia [Disease (Nov.)]
- spermatogenic failure 6 [DO Concept]
- spermatogenic failure 9 [DO Concept]
DO Cross reference
- spermatogenic failure 6 [DO Concept]
Genes related to phenotype
- Spermatogenesis-associated protein 16 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased acrosin in sperm head [HPO term]
- Globozoospermia [HPO term]
- Male infertility [HPO term]
ORDO concept(s)
- Male infertility due to globozoospermia [ORDO Disease]
- Male infertility with teratozoospermia due to single gene mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Globozoospermia [HPO term]
- Globozoospermia [NCIt concept]
- Globozoospermia (disorder) [SNOMED CT concept]
- Male infertility due to globozoospermia [ORDO Disease]
- Spermatozoa Round Head [LOINC component]
- globozoospermia [Disease (Nov.)]
- spermatogenic failure 9 [DO Concept]

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