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SPGF21
MCID: SPR112
MIFTS: 16
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Spermatogenic Failure 21 (SPGF21)
Categories:
Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Spermatogenic Failure 21:Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
based on report of 1 patient (last curated august 2017) Classifications: |
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OMIM
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57
Spermatogenic failure-21 is characterized by acephalic spermatozoa causing male infertility (Li et al., 2017).
For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617644)
MalaCards based summary : Spermatogenic Failure 21, is also known as spgf21. An important gene associated with Spermatogenic Failure 21 is BRDT (Bromodomain Testis Associated). Related phenotypes are infertility and reduced sperm motility Disease Ontology : 12 A male infertility characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has material basis in homozygous mutation in the BRDT gene on chromosome 1p22. UniProtKB/Swiss-Prot : 75 Spermatogenic failure 21: An infertility disorder caused by spermatogenesis defects and characterized by acephalic spermatozoa in the semen of affected individuals. SPGF21 inheritance is autosomal recessive. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617644Human phenotypes related to Spermatogenic Failure 21:32
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Genes related to Spermatogenic Failure 21 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spermatogenic Failure 21:6
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Search
GEO
for disease gene expression data for Spermatogenic Failure 21.
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