Spermatogenic Failure 21 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spermatogenic Failure 21

MalaCards integrated aliases for Spermatogenic Failure 21:

Name: Spermatogenic Failure 21 ⁵⁸ ¹² ⁷⁶ ³⁰ ⁶

Spgf21 ⁵⁸ ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated august 2017)

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070163

OMIM ⁵⁸ 617644

MeSH ⁴⁵ D007248

MedGen ⁴³ C4539991 CN424852

SNOMED-CT via HPO ⁷⁰ 15296000 8619003

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Summaries for Spermatogenic Failure 21

OMIM : ⁵⁸ Spermatogenic failure-21 is characterized by acephalic spermatozoa causing male infertility (Li et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617644)

MalaCards based summary : Spermatogenic Failure 21, is also known as spgf21. An important gene associated with Spermatogenic Failure 21 is BRDT (Bromodomain Testis Associated). Related phenotypes are infertility and reduced sperm motility

Disease Ontology : ¹² A male infertility characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has material basis in homozygous mutation in the BRDT gene on chromosome 1p22.

UniProtKB/Swiss-Prot : ⁷⁶ Spermatogenic failure 21: An infertility disorder caused by spermatogenesis defects and characterized by acephalic spermatozoa in the semen of affected individuals. SPGF21 inheritance is autosomal recessive.

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Related Diseases for Spermatogenic Failure 21

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	Spermatogenic Failure 35
Spermatogenic Failure 36	Spermatogenic Failure 37
Spermatogenic Failure 38

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Symptoms & Phenotypes for Spermatogenic Failure 21

Human phenotypes related to Spermatogenic Failure 21:

³³

#	Description	HPO Source Accession
1	infertility ³³	HP:0000789
2	reduced sperm motility ³³	HP:0012207
3	acephalic spermatozoa ³³	HP:0012869

Symptoms via clinical synopsis from OMIM:

⁵⁸

Genitourinary Internal Genitalia Male:
infertility
reduced sperm motility
acephalic spermatozoa
no mitochondria in sperm seen on electron microscopy
reduced sperm density

Clinical features from OMIM:

617644

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Drugs & Therapeutics for Spermatogenic Failure 21

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 21

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Genetic Tests for Spermatogenic Failure 21

Genetic tests related to Spermatogenic Failure 21:

#	Genetic test	Affiliating Genes
1	Spermatogenic Failure 21 ³⁰	BRDT

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Anatomical Context for Spermatogenic Failure 21

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Publications for Spermatogenic Failure 21

Articles related to Spermatogenic Failure 21:

#	Title	Authors	Year
1	Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa. ( 28199965 )	Li L...Wang B	2017

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Genes for Spermatogenic Failure 21

Genes related to Spermatogenic Failure 21 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BRDT	Bromodomain Testis Associated	Protein Coding	1077.3	Molecular basis known ⁵⁸ Pathogenic ⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	28199965

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Variations for Spermatogenic Failure 21

ClinVar genetic disease variations for Spermatogenic Failure 21:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BRDT	NM_207189.3(BRDT): c.2783G> A (p.Gly928Asp)	single nucleotide variant	Pathogenic	rs754258809	GRCh38	Chromosome 1, 92014213: 92014213
2	BRDT	NM_207189.3(BRDT): c.2783G> A (p.Gly928Asp)	single nucleotide variant	Pathogenic	rs754258809	GRCh37	Chromosome 1, 92479770: 92479770

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Expression for Spermatogenic Failure 21

Search GEO for disease gene expression data for Spermatogenic Failure 21.

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Pathways for Spermatogenic Failure 21

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GO Terms for Spermatogenic Failure 21

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Sources for Spermatogenic Failure 21

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Spermatogenic Failure 21 (SPGF21)

Aliases & Classifications for Spermatogenic Failure 21

MalaCards integrated aliases for Spermatogenic Failure 21:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 21

Related Diseases for Spermatogenic Failure 21

Diseases in the Spermatogenic Failure 4 family:

Symptoms & Phenotypes for Spermatogenic Failure 21

Human phenotypes related to Spermatogenic Failure 21:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spermatogenic Failure 21

Genetic Tests for Spermatogenic Failure 21

Genetic tests related to Spermatogenic Failure 21:

Anatomical Context for Spermatogenic Failure 21

Publications for Spermatogenic Failure 21

Articles related to Spermatogenic Failure 21:

Genes for Spermatogenic Failure 21

Genes related to Spermatogenic Failure 21 (1 elite genes):

Variations for Spermatogenic Failure 21

ClinVar genetic disease variations for Spermatogenic Failure 21:

Expression for Spermatogenic Failure 21

Pathways for Spermatogenic Failure 21

GO Terms for Spermatogenic Failure 21

Sources for Spermatogenic Failure 21