MCID: SPR095
MIFTS: 16

Spermatogenic Failure 14

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 14

MalaCards integrated aliases for Spermatogenic Failure 14:

Name: Spermatogenic Failure 14 57 75 6 73
Spgf14 57 75
Spermatogenic Failure, Type 14 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spermatogenic failure 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615842
SNOMED-CT via HPO 69 258211005 425558002 48188009
UMLS 73 C4014454

Summaries for Spermatogenic Failure 14

UniProtKB/Swiss-Prot : 75 Spermatogenic failure 14: A disorder resulting in the absence (azoospermia) or reduction (oligozoospermia) of sperm in the semen, leading to male infertility.

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.

Description from OMIM: 615842

Symptoms & Phenotypes for Spermatogenic Failure 14

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
azoospermia
maturation arrest in spermatid stage
thickening of tubular membranes

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


Clinical features from OMIM:

615842

Human phenotypes related to Spermatogenic Failure 14:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027

Drugs & Therapeutics for Spermatogenic Failure 14

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 14

Genetic Tests for Spermatogenic Failure 14

Anatomical Context for Spermatogenic Failure 14

Publications for Spermatogenic Failure 14

Variations for Spermatogenic Failure 14

ClinVar genetic disease variations for Spermatogenic Failure 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZMYND15 NM_001267822.1(ZMYND15): c.1520_1523delAACA (p.Lys507Serfs) deletion Pathogenic rs587777432 GRCh37 Chromosome 17, 4647509: 4647512
2 ZMYND15 NM_001267822.1(ZMYND15): c.1520_1523delAACA (p.Lys507Serfs) deletion Pathogenic rs587777432 GRCh38 Chromosome 17, 4744214: 4744217

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 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
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