SPGF47
MCID: SPR159
MIFTS: 16

Spermatogenic Failure 47 (SPGF47)

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

Aliases & Classifications for Spermatogenic Failure 47

MalaCards integrated aliases for Spermatogenic Failure 47:

Name: Spermatogenic Failure 47 57 12 6
Spgf47 57 12

Characteristics:

OMIM®:

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


HPO:

31
spermatogenic failure 47:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112175
OMIM® 57 619102
OMIM Phenotypic Series 57 PS258150
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 47

OMIM® : 57 Spermatogenic failure-47 (SPGF47) is characterized by male infertility due to asthenoteratospermia. Affected individuals have reduced sperm concentrations and spermatozoa are immotile, with short or absent flagella as well as centriolar abnormalities (Lv et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150. (619102) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 47, is also known as spgf47. An important gene associated with Spermatogenic Failure 47 is DZIP1 (DAZ Interacting Zinc Finger Protein 1). Related phenotypes are male infertility and oligospermia

Disease Ontology : 12 A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has material basis in homozygous or compound heterozygous mutation in DZIP1 on chromosome 13q32.1.

Related Diseases for Spermatogenic Failure 47

Symptoms & Phenotypes for Spermatogenic Failure 47

Human phenotypes related to Spermatogenic Failure 47:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 very rare (1%) HP:0003251
2 oligospermia 31 very rare (1%) HP:0000798
3 immotile sperm 31 very rare (1%) HP:0012208
4 absent sperm flagella 31 very rare (1%) HP:0032558
5 short sperm flagella 31 very rare (1%) HP:0032559

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility
reduced sperm concentration
short flagella
no progressive motility
asthenoteratospermia
more

Clinical features from OMIM®:

619102 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 47

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 47

Genetic Tests for Spermatogenic Failure 47

Anatomical Context for Spermatogenic Failure 47

Publications for Spermatogenic Failure 47

Articles related to Spermatogenic Failure 47:

# Title Authors PMID Year
1
Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF. 57 6
32051257 2020

Variations for Spermatogenic Failure 47

ClinVar genetic disease variations for Spermatogenic Failure 47:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DZIP1 NM_198968.4(DZIP1):c.690T>G (p.Tyr230Ter) SNV Pathogenic 984962 GRCh37: 13:96282363-96282363
GRCh38: 13:95630109-95630109
2 DZIP1 NM_198968.4(DZIP1):c.188G>A (p.Arg63Gln) SNV Pathogenic 984963 GRCh37: 13:96293958-96293958
GRCh38: 13:95641704-95641704

Expression for Spermatogenic Failure 47

Search GEO for disease gene expression data for Spermatogenic Failure 47.

Pathways for Spermatogenic Failure 47

GO Terms for Spermatogenic Failure 47

Sources for Spermatogenic Failure 47

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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