SPGF35
MCID: SPR140
MIFTS: 20

Spermatogenic Failure 35 (SPGF35)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 35

MalaCards integrated aliases for Spermatogenic Failure 35:

Name: Spermatogenic Failure 35 57 12 72 29 6
Spgf35 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 35:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111914
OMIM® 57 618341
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Spermatogenic Failure 35

OMIM® : 57 Spermatogenic failure-35 (SPGF35) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in spermatozoa with severely impaired motility and infertility. Short, thickened, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of axonemal composition are also present (Shen et al., 2019). (618341) (Updated 20-May-2021)

MalaCards based summary : Spermatogenic Failure 35, is also known as spgf35. An important gene associated with Spermatogenic Failure 35 is QRICH2 (Glutamine Rich 2). Related phenotypes are infertility and absent sperm flagella

Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has material basis in homozygous or compound heterozygous mutation in QRICH2 on chromosome 17q25.1.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 35: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum and severely impaired spermatozoa motility.

Related Diseases for Spermatogenic Failure 35

Symptoms & Phenotypes for Spermatogenic Failure 35

Human phenotypes related to Spermatogenic Failure 35:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 absent sperm flagella 31 HP:0032558
3 short sperm flagella 31 HP:0032559
4 coiled sperm flagella 31 HP:0032560

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
infertility
absent sperm flagella
short sperm flagella
coiled sperm flagella
reduced progressive motility of spermatozoa, severe
more

Clinical features from OMIM®:

618341 (Updated 20-May-2021)

Drugs & Therapeutics for Spermatogenic Failure 35

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 35

Genetic Tests for Spermatogenic Failure 35

Genetic tests related to Spermatogenic Failure 35:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 35 29 QRICH2

Anatomical Context for Spermatogenic Failure 35

Publications for Spermatogenic Failure 35

Articles related to Spermatogenic Failure 35:

# Title Authors PMID Year
1
Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations. 6 57
31292949 2019
2
Author Correction: Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. 6
31110204 2019
3
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 57
30686508 2019
4
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. 57
30683861 2019

Variations for Spermatogenic Failure 35

ClinVar genetic disease variations for Spermatogenic Failure 35:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 QRICH2 NM_032134.2(QRICH2):c.192G>A (p.Trp64Ter) SNV Pathogenic 619117 rs1567790522 GRCh37: 17:74300511-74300511
GRCh38: 17:76304430-76304430
2 QRICH2 NM_032134.2(QRICH2):c.3037C>T (p.Arg1013Ter) SNV Pathogenic 619118 rs777214459 GRCh37: 17:74287273-74287273
GRCh38: 17:76291192-76291192
3 QRICH2 NM_032134.2(QRICH2):c.3501C>G (p.Tyr1167Ter) SNV Pathogenic 974676 GRCh37: 17:74283285-74283285
GRCh38: 17:76287204-76287204
4 QRICH2 NM_032134.2(QRICH2):c.4614C>G (p.Tyr1538Ter) SNV Pathogenic 974677 GRCh37: 17:74274075-74274075
GRCh38: 17:76277994-76277994

Expression for Spermatogenic Failure 35

Search GEO for disease gene expression data for Spermatogenic Failure 35.

Pathways for Spermatogenic Failure 35

GO Terms for Spermatogenic Failure 35

Sources for Spermatogenic Failure 35

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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