SPGF11
MCID: SPR081
MIFTS: 17

Spermatogenic Failure 11 (SPGF11)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 11

MalaCards integrated aliases for Spermatogenic Failure 11:

Name: Spermatogenic Failure 11 58 12 76 30 13 6 74
Spgf11 58 12 76
Spermatogenic Failure, Type 11 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
spermatogenic failure 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070180
OMIM 58 615081
MeSH 45 D007248
UMLS 74 C3554453

Summaries for Spermatogenic Failure 11

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 11: An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Oligozoospermia is usually observed in SPGF11 patients. In addition to oligozoospermia, teratozoospermia and moderate asthenozoospermia is observed in some cases.

MalaCards based summary : Spermatogenic Failure 11, is also known as spgf11. An important gene associated with Spermatogenic Failure 11 is KLHL10 (Kelch Like Family Member 10). Related phenotypes are abnormal sperm morphology and infertility

Disease Ontology : 12 A male infertility characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has material basis in mutation in the KLHL10 gene on chromosome 17q21.

Description from OMIM: 615081

Symptoms & Phenotypes for Spermatogenic Failure 11

Human phenotypes related to Spermatogenic Failure 11:

33
# Description HPO Frequency HPO Source Accession
1 abnormal sperm morphology 33 occasional (7.5%) HP:0012864
2 infertility 33 HP:0000789

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
infertility
oligozoospermia
spermatogenic failure
teratozoospermia (in some patients)
asthenozoospermia (in some patients)

Clinical features from OMIM:

615081

Drugs & Therapeutics for Spermatogenic Failure 11

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 11

Genetic Tests for Spermatogenic Failure 11

Genetic tests related to Spermatogenic Failure 11:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 11 30 KLHL10

Anatomical Context for Spermatogenic Failure 11

Publications for Spermatogenic Failure 11

Variations for Spermatogenic Failure 11

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 11:

76
# Symbol AA change Variation ID SNP ID
1 KLHL10 p.Gln216Pro VAR_069357 rs116420871
2 KLHL10 p.Ala313Thr VAR_069358 rs370756367

ClinVar genetic disease variations for Spermatogenic Failure 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KLHL10 NM_001329595.1(KLHL10): c.647A> C (p.Gln216Pro) single nucleotide variant Pathogenic rs116420871 GRCh37 Chromosome 17, 39998527: 39998527
2 KLHL10 NM_001329595.1(KLHL10): c.647A> C (p.Gln216Pro) single nucleotide variant Pathogenic rs116420871 GRCh38 Chromosome 17, 41842275: 41842275
3 KLHL10 NM_001329595.1(KLHL10): c.937G> A (p.Ala313Thr) single nucleotide variant Pathogenic rs370756367 GRCh37 Chromosome 17, 40001630: 40001630
4 KLHL10 NM_001329595.1(KLHL10): c.937G> A (p.Ala313Thr) single nucleotide variant Pathogenic rs370756367 GRCh38 Chromosome 17, 41845378: 41845378
5 KLHL10 KLHL10, IVS3, 4-BP DEL, +121 deletion Pathogenic

Expression for Spermatogenic Failure 11

Search GEO for disease gene expression data for Spermatogenic Failure 11.

Pathways for Spermatogenic Failure 11

GO Terms for Spermatogenic Failure 11

Sources for Spermatogenic Failure 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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