SPGF44
MCID: SPR156
MIFTS: 17

Spermatogenic Failure 44 (SPGF44)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 44

MalaCards integrated aliases for Spermatogenic Failure 44:

Name: Spermatogenic Failure 44 57 12 72 6
Spgf44 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
no normally formed sperm observed
based on a report of 2 unrelated chinese men


HPO:

31
spermatogenic failure 44:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112109
OMIM® 57 619044
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
MedGen 41 CN293344
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 44

Disease Ontology : 12 A spermatogenic failure characterized by high prevelance of acephalic sperm and reduced progressive motility of sperm that has material basis in homozygous or compound heterozygous mutation in CEP112 on chromosome 17q24.1.

MalaCards based summary : Spermatogenic Failure 44, is also known as spgf44. An important gene associated with Spermatogenic Failure 44 is CEP112 (Centrosomal Protein 112). Related phenotypes are male infertility and reduced sperm motility

OMIM® : 57 Spermatogenic failure-44 (SPGF44) is characterized by male infertility due to headless sperm in the ejaculate (Sha et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (619044) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 44: An autosomal recessive infertility disorder caused by spermatogenesis defects and characterized by the presence of acephalic spermatozoa in the semen of affected individuals.

Related Diseases for Spermatogenic Failure 44

Symptoms & Phenotypes for Spermatogenic Failure 44

Human phenotypes related to Spermatogenic Failure 44:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 very rare (1%) HP:0003251
2 reduced sperm motility 31 very rare (1%) HP:0012207
3 acephalic spermatozoa 31 very rare (1%) HP:0012869

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility
reduced sperm concentration
sperm with abnormal head-tail junction
reduced progressive motility of sperm
acephalic sperm (92-95% of observed sperm)
more

Clinical features from OMIM®:

619044 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 44

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 44

Genetic Tests for Spermatogenic Failure 44

Anatomical Context for Spermatogenic Failure 44

Publications for Spermatogenic Failure 44

Articles related to Spermatogenic Failure 44:

# Title Authors PMID Year
1
Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype. 57 6
31654588 2020

Variations for Spermatogenic Failure 44

ClinVar genetic disease variations for Spermatogenic Failure 44:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP112 NM_001199165.4(CEP112):c.496C>T (p.Arg166Ter) SNV Pathogenic 981489 GRCh37: 17:64128856-64128856
GRCh38: 17:66132738-66132738
2 CEP112 NM_001199165.4(CEP112):c.2074C>T (p.Arg692Trp) SNV Pathogenic 981490 GRCh37: 17:63898359-63898359
GRCh38: 17:65902241-65902241
3 CEP112 NM_001199165.4(CEP112):c.2104C>T (p.Arg702Cys) SNV Pathogenic 981491 GRCh37: 17:63898329-63898329
GRCh38: 17:65902211-65902211

Expression for Spermatogenic Failure 44

Search GEO for disease gene expression data for Spermatogenic Failure 44.

Pathways for Spermatogenic Failure 44

GO Terms for Spermatogenic Failure 44

Sources for Spermatogenic Failure 44

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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