SPGFX2
MCID: SPR091
MIFTS: 20

Spermatogenic Failure, X-Linked, 2 (SPGFX2)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure, X-Linked, 2

MalaCards integrated aliases for Spermatogenic Failure, X-Linked, 2:

Name: Spermatogenic Failure, X-Linked, 2 57 72 29 13 6 70
Spgfx2 57 12 72
Male Infertility from Defect in Meiosis 57 72
Spermatogenic Failure, X-Linked, Type 2 39
X-Linked Spermatogenic Failure 2 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive


HPO:

31
spermatogenic failure, x-linked, 2:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070185
OMIM® 57 309120
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
MedGen 41 C1839841
UMLS 70 C1839841

Summaries for Spermatogenic Failure, X-Linked, 2

Disease Ontology : 12 An azoospermia characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has material basis in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13.

MalaCards based summary : Spermatogenic Failure, X-Linked, 2, is also known as spgfx2. An important gene associated with Spermatogenic Failure, X-Linked, 2 is TEX11 (Testis Expressed 11). Related phenotypes are azoospermia and testicular atrophy

UniProtKB/Swiss-Prot : 72 Spermatogenic failure, X-linked, 2: An infertility disorder caused by spermatogenesis defects. It is characterized by mixed testicular atrophy and azoospermia with meiotic arrest.

More information from OMIM: 309120 PS258150

Related Diseases for Spermatogenic Failure, X-Linked, 2

Symptoms & Phenotypes for Spermatogenic Failure, X-Linked, 2

Human phenotypes related to Spermatogenic Failure, X-Linked, 2:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 testicular atrophy 31 HP:0000029
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 male infertility 31 HP:0003251

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
infertility
meiotic arrest
mixed testicular atrophy

Clinical features from OMIM®:

309120 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure, X-Linked, 2

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure, X-Linked, 2

Genetic Tests for Spermatogenic Failure, X-Linked, 2

Genetic tests related to Spermatogenic Failure, X-Linked, 2:

# Genetic test Affiliating Genes
1 Spermatogenic Failure, X-Linked, 2 29 TEX11

Anatomical Context for Spermatogenic Failure, X-Linked, 2

Publications for Spermatogenic Failure, X-Linked, 2

Articles related to Spermatogenic Failure, X-Linked, 2:

# Title Authors PMID Year
1
X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. 57 6
25970010 2015
2
Human male infertility, probably genetically determined, due to defective meiosis and spermatogenic arrest. 57
574357 1979

Variations for Spermatogenic Failure, X-Linked, 2

ClinVar genetic disease variations for Spermatogenic Failure, X-Linked, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TEX11 NC_000023.10:g.69954448_70045530del Deletion Pathogenic 192378 GRCh37:
GRCh38:
2 TEX11 NM_031276.3(TEX11):c.466A>G (p.Met156Val) SNV Pathogenic 192379 rs143246552 GRCh37: X:70072943-70072943
GRCh38: X:70853093-70853093
3 TEX11 NM_031276.3(TEX11):c.2047G>A (p.Ala683Thr) SNV Pathogenic 192380 rs140984555 GRCh37: X:69825271-69825271
GRCh38: X:70605421-70605421
4 TEX11 NM_031276.3(TEX11):c.405C>T (p.Ala135=) SNV Pathogenic 192381 rs147088100 GRCh37: X:70073098-70073098
GRCh38: X:70853248-70853248

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure, X-Linked, 2:

72
# Symbol AA change Variation ID SNP ID
1 TEX11 p.Met171Val VAR_073889 rs143246552
2 TEX11 p.Ala698Thr VAR_073890 rs140984555

Expression for Spermatogenic Failure, X-Linked, 2

Search GEO for disease gene expression data for Spermatogenic Failure, X-Linked, 2.

Pathways for Spermatogenic Failure, X-Linked, 2

GO Terms for Spermatogenic Failure, X-Linked, 2

Sources for Spermatogenic Failure, X-Linked, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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