SPGF21
MCID: SPR112
MIFTS: 16

Spermatogenic Failure 21 (SPGF21)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 21

MalaCards integrated aliases for Spermatogenic Failure 21:

Name: Spermatogenic Failure 21 58 12 76 30 6
Spgf21 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated august 2017)


Classifications:



External Ids:

Disease Ontology 12 DOID:0070163
OMIM 58 617644
MeSH 45 D007248
SNOMED-CT via HPO 70 15296000 8619003

Summaries for Spermatogenic Failure 21

OMIM : 58 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 : 76 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 & Phenotypes for Spermatogenic Failure 21

Human phenotypes related to Spermatogenic Failure 21:

33
# Description HPO Frequency HPO Source Accession
1 infertility 33 HP:0000789
2 reduced sperm motility 33 HP:0012207
3 acephalic spermatozoa 33 HP:0012869

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
infertility
reduced sperm motility
acephalic spermatozoa
no mitochondria in sperm seen on electron microscopy
reduced sperm density

Clinical features from OMIM:

617644

Drugs & Therapeutics for Spermatogenic Failure 21

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 21

Genetic Tests for Spermatogenic Failure 21

Genetic tests related to Spermatogenic Failure 21:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 21 30 BRDT

Anatomical Context for Spermatogenic Failure 21

Publications for Spermatogenic Failure 21

Variations for Spermatogenic Failure 21

ClinVar genetic disease variations for Spermatogenic Failure 21:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRDT NM_207189.3(BRDT): c.2783G> A (p.Gly928Asp) single nucleotide variant Pathogenic rs754258809 GRCh38 Chromosome 1, 92014213: 92014213
2 BRDT NM_207189.3(BRDT): c.2783G> A (p.Gly928Asp) single nucleotide variant Pathogenic rs754258809 GRCh37 Chromosome 1, 92479770: 92479770

Expression for Spermatogenic Failure 21

Search GEO for disease gene expression data for Spermatogenic Failure 21.

Pathways for Spermatogenic Failure 21

GO Terms for Spermatogenic Failure 21

Sources for Spermatogenic Failure 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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