SPGF31
MCID: SPR134
MIFTS: 20
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Spermatogenic Failure 31 (SPGF31)
Categories:
Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Spermatogenic Failure 31:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
infertility may be overcome by intracytoplasmic sperm injection HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Reproductive diseases Gastrointestinal diseases |
OMIM® :
57
SPGF31 is characterized by male infertility due to oligozoospermia with a high proportion (greater than 90%) of acephalic sperm. Affected couples may overcome infertility with intracytoplasmic sperm injection (Zhu et al., 2018).
For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150. (618112) (Updated 05-Mar-2021)
MalaCards based summary : Spermatogenic Failure 31, is also known as spgf31. An important gene associated with Spermatogenic Failure 31 is PMFBP1 (Polyamine Modulated Factor 1 Binding Protein 1). Related phenotypes are male infertility and acephalic spermatozoa Disease Ontology : 12 A spermatogenic failure characterized by oligozoospermia with a high proportion of acephalic sperm that has material basis in homozygous or compound heterozygous mutation in PMFBP1 on chromosome 16q22.2. UniProtKB/Swiss-Prot : 73 Spermatogenic failure 31: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligozoospermia with a high proportion of acephalic sperm. |
Human phenotypes related to Spermatogenic Failure 31:31
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Articles related to Spermatogenic Failure 31:
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ClinVar genetic disease variations for Spermatogenic Failure 31:6
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Search
GEO
for disease gene expression data for Spermatogenic Failure 31.
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