MCID: SPR131
MIFTS: 16

Spermatogenic Failure 28

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 28

MalaCards integrated aliases for Spermatogenic Failure 28:

Name: Spermatogenic Failure 28 57 6
Spgf28 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 57 618086
SNOMED-CT via HPO 69 425558002 48188009

Summaries for Spermatogenic Failure 28

OMIM : 57 Spermatogenic failure-28 is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618086)

MalaCards based summary : Spermatogenic Failure 28, is also known as spgf28. An important gene associated with Spermatogenic Failure 28 is FANCM (FA Complementation Group M). Affiliated tissues include testes, and related phenotypes are azoospermia and elevated circulating follicle stimulating hormone level

Symptoms & Phenotypes for Spermatogenic Failure 28

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
small testes

Genitourinary External Genitalia Female:
azoospermia, nonobstructive
oligoasthenospermia (in some patients)
sertoli cell-only syndrome

Endocrine Features:
low testosterone
elevated follicle-stimulating hormone (fsh)
elevated luteinizing hormone (lh)


Clinical features from OMIM:

618086

Human phenotypes related to Spermatogenic Failure 28:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 elevated circulating follicle stimulating hormone level 32 HP:0008232
3 elevated circulating luteinizing hormone level 32 HP:0011969

Drugs & Therapeutics for Spermatogenic Failure 28

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 28

Genetic Tests for Spermatogenic Failure 28

Anatomical Context for Spermatogenic Failure 28

MalaCards organs/tissues related to Spermatogenic Failure 28:

41
Testes

Publications for Spermatogenic Failure 28

Variations for Spermatogenic Failure 28

ClinVar genetic disease variations for Spermatogenic Failure 28:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCM NM_020937.3(FANCM): c.1491dupA (p.Gln498Thrfs) duplication Likely pathogenic rs797045116 GRCh38 Chromosome 14, 45159190: 45159190
2 FANCM NM_020937.3(FANCM): c.1491dupA (p.Gln498Thrfs) duplication Likely pathogenic rs797045116 GRCh37 Chromosome 14, 45628393: 45628393
3 FANCM NM_020937.3(FANCM): c.5101C> T (p.Gln1701Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs147021911 GRCh37 Chromosome 14, 45658326: 45658326
4 FANCM NM_020937.3(FANCM): c.5101C> T (p.Gln1701Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs147021911 GRCh38 Chromosome 14, 45189123: 45189123
5 FANCM NM_020937.3(FANCM): c.5791C> T (p.Arg1931Ter) single nucleotide variant Uncertain significance rs144567652 GRCh38 Chromosome 14, 45198718: 45198718
6 FANCM NM_020937.3(FANCM): c.5791C> T (p.Arg1931Ter) single nucleotide variant Uncertain significance rs144567652 GRCh37 Chromosome 14, 45667921: 45667921
7 FANCM NM_020937.3(FANCM): c.4387-10A> G single nucleotide variant Pathogenic GRCh37 Chromosome 14, 45652967: 45652967
8 FANCM NM_020937.3(FANCM): c.4387-10A> G single nucleotide variant Pathogenic GRCh38 Chromosome 14, 45183764: 45183764
9 FANCM NM_020937.3(FANCM): c.1946_1958del (p.Pro649Leufs) deletion Pathogenic GRCh37 Chromosome 14, 45636310: 45636322
10 FANCM NM_020937.3(FANCM): c.1946_1958del (p.Pro649Leufs) deletion Pathogenic GRCh38 Chromosome 14, 45167107: 45167119

Expression for Spermatogenic Failure 28

Search GEO for disease gene expression data for Spermatogenic Failure 28.

Pathways for Spermatogenic Failure 28

GO Terms for Spermatogenic Failure 28

Sources for Spermatogenic Failure 28

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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