SPGF21
MCID: SPR112
MIFTS: 17

Spermatogenic Failure 21 (SPGF21)

Categories: Gastrointestinal diseases, 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 72 29 6
Spgf21 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
spermatogenic failure 21:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070163
OMIM® 57 617644
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 15296000 258211005 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) (Updated 20-May-2021)

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 : 72 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.

Related Diseases for Spermatogenic Failure 21

Symptoms & Phenotypes for Spermatogenic Failure 21

Human phenotypes related to Spermatogenic Failure 21:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 reduced sperm motility 31 HP:0012207
3 acephalic spermatozoa 31 HP:0012869

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Articles related to Spermatogenic Failure 21:

# Title Authors PMID Year
1
Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa. 57 6
28199965 2017

Variations for Spermatogenic Failure 21

ClinVar genetic disease variations for Spermatogenic Failure 21:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRDT NM_001726.4(BRDT):c.2783G>A (p.Gly928Asp) SNV Pathogenic 437873 rs754258809 GRCh37: 1:92479770-92479770
GRCh38: 1:92014213-92014213
2 BRDT NM_207189.4(BRDT):c.2282_2285del (p.Pro761fs) Microsatellite Pathogenic 1033293 GRCh37: 1:92459802-92459805
GRCh38: 1:91994245-91994248

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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