SPGF40
MCID: SPR150
MIFTS: 21
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Spermatogenic Failure 40 (SPGF40)
Categories:
Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Spermatogenic Failure 40:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
rare patients report symptoms consistent with primary ciliary dyskinesia (pcd), but a definitive diagnosis of pcd has not been confirmed in patients with cfap65-associated infertility HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Reproductive diseases Gastrointestinal diseases |
OMIM® :
57
Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia (Wang et al., 2019; Li et al., 2020).
For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618664) (Updated 05-Mar-2021)
MalaCards based summary : Spermatogenic Failure 40, is also known as spgf40. An important gene associated with Spermatogenic Failure 40 is CFAP65 (Cilia And Flagella Associated Protein 65). Related phenotypes are male infertility and oligospermia Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has material basis in homozygous or compound heterozygous mutation in CFAP65 on chromosome 2q35. UniProtKB/Swiss-Prot : 73 Spermatogenic failure 40: An autosomal recessive infertility disorder characterized by severely reduced or absent sperm motility, due to multiple morphologic anomalies such as absent, short, bent, coiled and irregular-caliber tails. Patient spermatozoa may also show morphologic defects of the sperm head. |
Human phenotypes related to Spermatogenic Failure 40:31 (show all 6)
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Articles related to Spermatogenic Failure 40:
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ClinVar genetic disease variations for Spermatogenic Failure 40:6
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Search
GEO
for disease gene expression data for Spermatogenic Failure 40.
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