SPGF14
MCID: SPR095
MIFTS: 18

Spermatogenic Failure 14 (SPGF14)

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

Aliases & Classifications for Spermatogenic Failure 14

MalaCards integrated aliases for Spermatogenic Failure 14:

Name: Spermatogenic Failure 14 57 12 72 29 6 70
Spgf14 57 12 72
Spermatogenic Failure, Type 14 39

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 1 consanguineous turkish family (last curated june 2014)


HPO:

31
spermatogenic failure 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070179
OMIM® 57 615842
OMIM Phenotypic Series 57 PS258150
SNOMED-CT via HPO 68 258211005 425558002 48188009
UMLS 70 C4014454

Summaries for Spermatogenic Failure 14

Disease Ontology : 12 An azoospermia characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has material basis in mutation in the ZMYND15 gene on chromosome 17p13.

MalaCards based summary : Spermatogenic Failure 14, is also known as spgf14. An important gene associated with Spermatogenic Failure 14 is ZMYND15 (Zinc Finger MYND-Type Containing 15). Related phenotype is azoospermia.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 14: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.

More information from OMIM: 615842 PS258150

Related Diseases for Spermatogenic Failure 14

Symptoms & Phenotypes for Spermatogenic Failure 14

Human phenotypes related to Spermatogenic Failure 14:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
maturation arrest in spermatid stage
thickening of tubular membranes

Endocrine Features:
normal luteinizing hormone level
normal prolactin level
normal testosterone level
elevated follicle-stimulating hormone level

Clinical features from OMIM®:

615842 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 14

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 14

Genetic Tests for Spermatogenic Failure 14

Genetic tests related to Spermatogenic Failure 14:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 14 29 ZMYND15

Anatomical Context for Spermatogenic Failure 14

Publications for Spermatogenic Failure 14

Articles related to Spermatogenic Failure 14:

# Title Authors PMID Year
1
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. 6 57
24431330 2014

Variations for Spermatogenic Failure 14

ClinVar genetic disease variations for Spermatogenic Failure 14:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZMYND15 NM_001136046.3(ZMYND15):c.1516_1519AACA[1] (p.Lys507fs) Microsatellite Pathogenic 135663 rs587777432 GRCh37: 17:4647504-4647507
GRCh38: 17:4744209-4744212
2 ZMYND15 NM_001136046.3(ZMYND15):c.2057+6G>T SNV Uncertain significance 812589 rs1597285544 GRCh37: 17:4648676-4648676
GRCh38: 17:4745381-4745381

Expression for Spermatogenic Failure 14

Search GEO for disease gene expression data for Spermatogenic Failure 14.

Pathways for Spermatogenic Failure 14

GO Terms for Spermatogenic Failure 14

Sources for Spermatogenic Failure 14

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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