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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615081

MedGen ⁴² C3554453 CN165619

MeSH ⁴⁴ D007248

SNOMED-CT via HPO ⁶⁹ 263681008 15296000 8619003 more

UMLS ⁷³ C3554453

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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

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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

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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

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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

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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	PubmedIds
1	KLHL10	Kelch Like Family Member 10	Protein Coding	1327.76	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17047026

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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

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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

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