SPGF41
MCID: SPR151
MIFTS: 17
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Spermatogenic Failure 41 (SPGF41)
Categories:
Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Spermatogenic Failure 41:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
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 HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Reproductive diseases Gastrointestinal diseases |
OMIM® :
57
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) (Updated 05-Mar-2021)
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). Related phenotypes are male infertility and oligospermia Disease Ontology : 12 A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has material basis in homozygous or compound heterozygous mutation in CFAP70 on chromosome 10q22.2. 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. |
Human phenotypes related to Spermatogenic Failure 41:31
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Articles related to Spermatogenic Failure 41:
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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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