SPGF11
MCID: SPR081
MIFTS: 24

Spermatogenic Failure 11 (SPGF11)

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

Aliases & Classifications for Spermatogenic Failure 11

MalaCards integrated aliases for Spermatogenic Failure 11:

Name: Spermatogenic Failure 11 57 12 72 29 13 6 15 70
Spgf11 57 12 72
Spermatogenic Failure, Type 11 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
spermatogenic failure 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070180
OMIM® 57 615081
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
UMLS 70 C3554453

Summaries for Spermatogenic Failure 11

UniProtKB/Swiss-Prot : 72 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, also known as spgf11, is related to dermatopathia pigmentosa reticularis and cone-rod dystrophy 6. 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.

More information from OMIM: 615081 PS258150

Related Diseases for Spermatogenic Failure 11

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 5
Spermatogenic Failure 1 Spermatogenic Failure 4
Spermatogenic Failure 3 Spermatogenic Failure 7
Spermatogenic Failure 8 Spermatogenic Failure 9
Spermatogenic Failure 10 Spermatogenic Failure 11
Spermatogenic Failure 12 Spermatogenic Failure 13
Spermatogenic Failure 14 Spermatogenic Failure 15
Spermatogenic Failure 16 Spermatogenic Failure 17
Spermatogenic Failure 18 Spermatogenic Failure 19
Spermatogenic Failure 20 Spermatogenic Failure 21
Spermatogenic Failure 22 Spermatogenic Failure 23
Spermatogenic Failure 24 Spermatogenic Failure 25
Spermatogenic Failure 26 Spermatogenic Failure 27
Spermatogenic Failure 28 Spermatogenic Failure 29
Spermatogenic Failure 30 Spermatogenic Failure 31
Spermatogenic Failure 32 Spermatogenic Failure 33
Spermatogenic Failure 34 Spermatogenic Failure 35
Spermatogenic Failure 36 Spermatogenic Failure 37
Spermatogenic Failure 38 Spermatogenic Failure 39
Spermatogenic Failure 40 Spermatogenic Failure 41
Spermatogenic Failure 42 Spermatogenic Failure 43
Spermatogenic Failure 44 Spermatogenic Failure 45
Spermatogenic Failure 46 Spermatogenic Failure 47
Spermatogenic Failure 48 Spermatogenic Failure 49
Spermatogenic Failure 50 Spermatogenic Failure 51
Spermatogenic Failure 52 Spermatogenic Failure 53

Diseases related to Spermatogenic Failure 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dermatopathia pigmentosa reticularis 9.9 ZBTB22 LGALS4
2 cone-rod dystrophy 6 9.8 ZBTB22 LGALS4
3 distal arthrogryposis 9.7 ZBTB22 LGALS4
4 spinal muscular atrophy, type i 9.6 ZNF410 CNOT1
5 retinitis pigmentosa 49 9.4 ZBTB22 LGALS4 CNOT1

Graphical network of the top 20 diseases related to Spermatogenic Failure 11:



Diseases related to Spermatogenic Failure 11

Symptoms & Phenotypes for Spermatogenic Failure 11

Human phenotypes related to Spermatogenic Failure 11:

31
# Description HPO Frequency HPO Source Accession
1 abnormal sperm morphology 31 occasional (7.5%) HP:0012864
2 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
infertility
oligozoospermia
spermatogenic failure
teratozoospermia (in some patients)
asthenozoospermia (in some patients)

Clinical features from OMIM®:

615081 (Updated 20-May-2021)

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

Articles related to Spermatogenic Failure 11:

# Title Authors PMID Year
1
Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. 6 57
17047026 2006
2
Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice. 57
15136734 2004

Variations for Spermatogenic Failure 11

ClinVar genetic disease variations for Spermatogenic Failure 11:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KLHL10 NM_152467.5(KLHL10):c.937G>A (p.Ala313Thr) SNV Pathogenic 40009 rs370756367 GRCh37: 17:40001630-40001630
GRCh38: 17:41845378-41845378
2 KLHL10 KLHL10, IVS3, 4-BP DEL, +121 Deletion Pathogenic 40010 GRCh37:
GRCh38:
3 KLHL10 NM_152467.5(KLHL10):c.985C>T (p.Arg329Cys) SNV Pathogenic 996145 rs782565913 GRCh37: 17:40001678-40001678
GRCh38: 17:41845426-41845426
4 KLHL10 NM_152467.5(KLHL10):c.647A>C (p.Gln216Pro) SNV Conflicting interpretations of pathogenicity 40008 rs116420871 GRCh37: 17:39998527-39998527
GRCh38: 17:41842275-41842275
5 KLHL10 NM_152467.5(KLHL10):c.923T>C (p.Ile308Thr) SNV Uncertain significance 1030262 GRCh37: 17:40001616-40001616
GRCh38: 17:41845364-41845364

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

72
# Symbol AA change Variation ID SNP ID
1 KLHL10 p.Gln216Pro VAR_069357 rs116420871
2 KLHL10 p.Ala313Thr VAR_069358 rs370756367

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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