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

Sources

Aliases & Classifications for Spermatogenic Failure 21

MalaCards integrated aliases for Spermatogenic Failure 21:

Name: Spermatogenic Failure 21 ⁵⁷ ⁷⁵ ⁶

Spgf21 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

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:

OMIM ⁵⁷ 617644

MedGen ⁴² C4539991 CN424852

MeSH ⁴⁴ D007248

Sources

Summaries for Spermatogenic Failure 21

OMIM : ⁵⁷ 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).

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Sources

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

Sources

Symptoms & Phenotypes for Spermatogenic Failure 21

Symptoms via clinical synopsis from OMIM:

⁵⁷

GenitourinaryInternal GenitaliaMale:
infertility
acephalic spermatozoa
no mitochondria in sperm seen on electron microscopy
reduced sperm density
reduced sperm motility

Clinical features from OMIM:

617644

Sources

Drugs & Therapeutics for Spermatogenic Failure 21

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 21

Sources

Genetic Tests for Spermatogenic Failure 21

Sources

Anatomical Context for Spermatogenic Failure 21

Sources

Publications for Spermatogenic Failure 21

Sources

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	977.52	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	28199965

Sources

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

Sources

Expression for Spermatogenic Failure 21

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

Sources

Pathways for Spermatogenic Failure 21

Sources

GO Terms for Spermatogenic Failure 21

Sources

Sources for Spermatogenic Failure 21

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