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SPGF41
MCID: SPR151
MIFTS: 15
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Spermatogenic Failure 41 (SPGF41)
Categories:
Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Spermatogenic Failure 41:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 1 patient with a splice site mutation (last curated november 2019) intracytoplasmic sperm injection may result in successful pregnancy Classifications: |
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OMIM :
56
Spermatogenic failure-41 (SPGF41) is characterized by infertility due to multiple morphologic abnormalities of the flagella (MMAF). Patient semen analysis has also shown oligozoospermia, and the flagellar abnormalities include short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities (Beurois et al., 2019).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618670)
MalaCards based summary : Spermatogenic Failure 41, is also known as spgf41. An important gene associated with Spermatogenic Failure 41 is CFAP70 (Cilia And Flagella Associated Protein 70). UniProtKB/Swiss-Prot : 73 Spermatogenic failure 41: An autosomal recessive infertility disorder characterized by oligozoospermia, severe asthenozoospermia and flagellar abnormalities such as short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities. |
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Articles related to Spermatogenic Failure 41:
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Genes related to Spermatogenic Failure 41 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spermatogenic Failure 41:6
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Search
GEO
for disease gene expression data for Spermatogenic Failure 41.
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