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

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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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070180

OMIM® ⁵⁷ 615081

OMIM Phenotypic Series ⁵⁷ PS258150

MeSH ⁴⁴ D007248

MedGen ⁴¹ C3554453 CN165619

SNOMED-CT via HPO ⁶⁸ 15296000 236817003 263681008 more

UMLS ⁷⁰ C3554453

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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

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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:

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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)

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Drugs & Therapeutics for Spermatogenic Failure 11

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 11

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Genetic Tests for Spermatogenic Failure 11

Genetic tests related to Spermatogenic Failure 11:

#	Genetic test	Affiliating Genes
1	Spermatogenic Failure 11 ²⁹	KLHL10

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Anatomical Context for Spermatogenic Failure 11

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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	Yatsenko AN...Matzuk MM	17047026	2006
2	Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice. ⁵⁷	Yan W...Matzuk MM	15136734	2004

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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	PubMed IDs
1	KLHL10	Kelch Like Family Member 10	Protein Coding	1316.92	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17047026
2	ZBTB22	Zinc Finger And BTB Domain Containing 22	Protein Coding	6.34	DISEASES inferred ¹⁵
3	ZNF410	Zinc Finger Protein 410	Protein Coding	5.8	DISEASES inferred ¹⁵
4	KCNH1	Potassium Voltage-Gated Channel Subfamily H Member 1	Protein Coding	5.54	DISEASES inferred ¹⁵
5	CNOT1	CCR4-NOT Transcription Complex Subunit 1	Protein Coding	5.35	DISEASES inferred ¹⁵
6	LGALS4	Galectin 4	Protein Coding	4.39	DISEASES inferred ¹⁵

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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

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Expression for Spermatogenic Failure 11

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

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Pathways for Spermatogenic Failure 11

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GO Terms for Spermatogenic Failure 11

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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

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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 6 family:

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

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

Symptoms & Phenotypes for Spermatogenic Failure 11

Human phenotypes related to Spermatogenic Failure 11:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Articles related to Spermatogenic Failure 11:

Genes for Spermatogenic Failure 11

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

Variations for Spermatogenic Failure 11

ClinVar genetic disease variations for Spermatogenic Failure 11:

UniProtKB/Swiss-Prot 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