MCID: SPR081
MIFTS: 16

Spermatogenic Failure 11

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 11

MalaCards integrated aliases for Spermatogenic Failure 11:

Name: Spermatogenic Failure 11 57 75 29 13 6 73
Spgf11 57 75
Spermatogenic Failure, Type 11 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spermatogenic failure 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615081
MeSH 44 D007248
UMLS 73 C3554453

Summaries for Spermatogenic Failure 11

UniProtKB/Swiss-Prot : 75 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 infertility and abnormal sperm morphology

Description from OMIM: 615081

Symptoms & Phenotypes for Spermatogenic Failure 11

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
infertility
spermatogenic failure
oligozoospermia
teratozoospermia (in some patients)
asthenozoospermia (in some patients)


Clinical features from OMIM:

615081

Human phenotypes related to Spermatogenic Failure 11:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 abnormal sperm morphology 32 occasional (7.5%) HP:0012864

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 29 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:

75
# 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 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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