Spermatogenic Failure 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Spermatogenic Failure 11

MalaCards integrated aliases for Spermatogenic Failure 11:

Name: Spermatogenic Failure 11 ⁵⁷ ¹² ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Spgf11 ⁵⁷ ¹² ⁷⁵

Spermatogenic Failure, Type 11 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

spermatogenic failure 11:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615081

Disease Ontology ¹² DOID:0070180

MedGen ⁴² C3554453 CN165619

MeSH ⁴⁴ D007248

SNOMED-CT via HPO ⁶⁹ 263681008 15296000 8619003 more

UMLS ⁷³ C3554453

Sources

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

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

Sources

Related Diseases for Spermatogenic Failure 11

Diseases in the Spermatogenic Failure 4 family:

Spermatogenic Failure 6	Spermatogenic Failure 2
Spermatogenic Failure 5	Spermatogenic Failure 1
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

Sources

Symptoms & Phenotypes for Spermatogenic Failure 11

Symptoms via clinical synopsis from OMIM:

⁵⁷

Genitourinary Internal Genitalia Male:
infertility
oligozoospermia
spermatogenic failure
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

Sources

Drugs & Therapeutics for Spermatogenic Failure 11

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 11

Sources

Genetic Tests for Spermatogenic Failure 11

Genetic tests related to Spermatogenic Failure 11:

#	Genetic test	Affiliating Genes
1	Spermatogenic Failure 11 ²⁹	KLHL10

Sources

Anatomical Context for Spermatogenic Failure 11

Sources

Publications for Spermatogenic Failure 11

Sources

Genes for Spermatogenic Failure 11

Genes related to Spermatogenic Failure 11 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KLHL10	Kelch Like Family Member 10	Protein Coding	1327.58	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17047026

Sources

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

Sources

Expression for Spermatogenic Failure 11

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

Sources

Pathways for Spermatogenic Failure 11

Sources

GO Terms for Spermatogenic Failure 11

Sources

Sources for Spermatogenic Failure 11

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Spermatogenic Failure 11 (SPGF11)

Aliases & Classifications for Spermatogenic Failure 11

MalaCards integrated aliases for Spermatogenic Failure 11:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 11

Related Diseases for Spermatogenic Failure 11

Diseases in the Spermatogenic Failure 4 family:

Symptoms & Phenotypes for Spermatogenic Failure 11

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spermatogenic Failure 11:

Drugs & Therapeutics for Spermatogenic Failure 11

Genetic Tests for Spermatogenic Failure 11

Genetic tests related to Spermatogenic Failure 11:

Anatomical Context for Spermatogenic Failure 11

Publications for Spermatogenic Failure 11

Genes for Spermatogenic Failure 11

Genes related to Spermatogenic Failure 11 (1 elite genes):

Variations for Spermatogenic Failure 11

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

ClinVar genetic disease variations for Spermatogenic Failure 11:

Expression for Spermatogenic Failure 11

Pathways for Spermatogenic Failure 11

GO Terms for Spermatogenic Failure 11

Sources for Spermatogenic Failure 11