MCID: SPR088
MIFTS: 17

Spermatogenic Failure 7

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 7

MalaCards integrated aliases for Spermatogenic Failure 7:

Name: Spermatogenic Failure 7 57 75 13 73
Spgf7 57 75
Miar 57 75
Male Infertility, Nonsyndromic, Autosomal Recessive; Miar 57
Male Infertility, Nonsyndromic, Autosomal Recessive 57
Male Infertility Non-Syndromic Autosomal Recessive 75
Spermatogenic Failure, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on 2 men from 2 unrelated consanguineous iranian families


HPO:

32
spermatogenic failure 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 612997
MedGen 42 C2751811
MeSH 44 D053627
SNOMED-CT via HPO 69 258211005 2904007
UMLS 73 C2751811

Summaries for Spermatogenic Failure 7

UniProtKB/Swiss-Prot : 75 Spermatogenic failure 7: An infertility disorder characterized by non-motile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume.

MalaCards based summary : Spermatogenic Failure 7, is also known as spgf7. An important gene associated with Spermatogenic Failure 7 is CATSPER1 (Cation Channel Sperm Associated 1). Related phenotypes are oligospermia and male infertility

Description from OMIM: 612997

Symptoms & Phenotypes for Spermatogenic Failure 7

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
infertility
nonmotile sperm
decreased sperm motility
low sperm count
reduced semen volume
more

Clinical features from OMIM:

612997

Human phenotypes related to Spermatogenic Failure 7:

32
# Description HPO Frequency HPO Source Accession
1 oligospermia 32 HP:0000798
2 male infertility 32 HP:0003251
3 reduced sperm motility 32 HP:0012207
4 nonmotile sperm 32 HP:0012208

Drugs & Therapeutics for Spermatogenic Failure 7

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 7

Genetic Tests for Spermatogenic Failure 7

Anatomical Context for Spermatogenic Failure 7

Publications for Spermatogenic Failure 7

Variations for Spermatogenic Failure 7

ClinVar genetic disease variations for Spermatogenic Failure 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CATSPER1 NM_053054.3(CATSPER1): c.539dupT (p.His182Profs) duplication Pathogenic rs193929390 GRCh37 Chromosome 11, 65793312: 65793312
2 CATSPER1 NM_053054.3(CATSPER1): c.539dupT (p.His182Profs) duplication Pathogenic rs193929390 GRCh38 Chromosome 11, 66025841: 66025841
3 CATSPER1 NM_053054.3(CATSPER1): c.944_948dupATGGC (p.Asp317Metfs) duplication Pathogenic rs193929391 GRCh37 Chromosome 11, 65792903: 65792907
4 CATSPER1 NM_053054.3(CATSPER1): c.944_948dupATGGC (p.Asp317Metfs) duplication Pathogenic rs193929391 GRCh38 Chromosome 11, 66025432: 66025436

Expression for Spermatogenic Failure 7

Search GEO for disease gene expression data for Spermatogenic Failure 7.

Pathways for Spermatogenic Failure 7

GO Terms for Spermatogenic Failure 7

Sources for Spermatogenic Failure 7

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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