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 57 12 75 29 6
Spgf21 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617644
Disease Ontology 12 DOID:0070163
MeSH 44 D007248
SNOMED-CT via HPO 69 15296000 8619003

Summaries for Spermatogenic Failure 21

OMIM : 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 & Phenotypes for Spermatogenic Failure 21

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spermatogenic Failure 21:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 reduced sperm motility 32 HP:0012207
3 acephalic spermatozoa 32 HP:0012869

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 29 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....