MCID: SPR091
MIFTS: 16

Spermatogenic Failure, X-Linked, 2

Categories: Genetic diseases, Reproductive diseases, Rare 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 75 29 13 6 73
Male Infertility from Defect in Meiosis 57 75
Spgfx2 57 75
Spermatogenic Failure, X-Linked, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
spermatogenic failure, x-linked, 2:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 309120
MedGen 42 C1839841
MeSH 44 D007248
SNOMED-CT via HPO 69 425558002 48188009 2904007
UMLS 73 C1839841

Summaries for Spermatogenic Failure, X-Linked, 2

UniProtKB/Swiss-Prot : 75 Spermatogenic failure, X-linked, 2: An infertility disorder caused by spermatogenesis defects. It is characterized by mixed testicular atrophy and azoospermia with meiotic arrest.

MalaCards based summary : Spermatogenic Failure, X-Linked, 2, is also known as male infertility from defect in meiosis. An important gene associated with Spermatogenic Failure, X-Linked, 2 is TEX11 (Testis Expressed 11). Related phenotypes are azoospermia and abnormality of metabolism/homeostasis

Description from OMIM: 309120

Related Diseases for Spermatogenic Failure, X-Linked, 2

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

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
infertility
azoospermia
meiotic arrest
mixed testicular atrophy


Clinical features from OMIM:

309120

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

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 abnormality of metabolism/homeostasis 32 HP:0001939
3 male infertility 32 HP:0003251

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

Variations for Spermatogenic Failure, X-Linked, 2

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

75
# Symbol AA change Variation ID SNP ID
1 TEX11 p.Met171Val VAR_073889 rs143246552
2 TEX11 p.Ala698Thr VAR_073890 rs140984555

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TEX11 TEX11, 90-KB DEL, EX10-12 deletion Pathogenic
2 TEX11 NM_001003811.1(TEX11): c.511A> G (p.Met171Val) single nucleotide variant Pathogenic rs143246552 GRCh37 Chromosome X, 70072943: 70072943
3 TEX11 NM_001003811.1(TEX11): c.511A> G (p.Met171Val) single nucleotide variant Pathogenic rs143246552 GRCh38 Chromosome X, 70853093: 70853093
4 TEX11 NM_001003811.1(TEX11): c.2092G> A (p.Ala698Thr) single nucleotide variant Pathogenic rs140984555 GRCh37 Chromosome X, 69825271: 69825271
5 TEX11 NM_001003811.1(TEX11): c.2092G> A (p.Ala698Thr) single nucleotide variant Pathogenic rs140984555 GRCh38 Chromosome X, 70605421: 70605421
6 TEX11 NM_001003811.1(TEX11): c.450C> T (p.Ala150=) single nucleotide variant Pathogenic rs147088100 GRCh38 Chromosome X, 70853248: 70853248
7 TEX11 NM_001003811.1(TEX11): c.450C> T (p.Ala150=) single nucleotide variant Pathogenic rs147088100 GRCh37 Chromosome X, 70073098: 70073098

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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