SPGF28
MCID: SPR131
MIFTS: 23

Spermatogenic Failure 28 (SPGF28)

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

Aliases & Classifications for Spermatogenic Failure 28

MalaCards integrated aliases for Spermatogenic Failure 28:

Name: Spermatogenic Failure 28 57 12 72 29 6
Spgf28 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 28:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111916
OMIM® 57 618086
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248

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) (Updated 05-Apr-2021)

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 decreased testicular size

Disease Ontology : 12 A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has material basis in homozygous or compound heterozygous mutation in FANCM on chromosome 14q21.2.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 28: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligoasthenospermia or non-obstructive azoospermia.

Related Diseases for Spermatogenic Failure 28

Symptoms & Phenotypes for Spermatogenic Failure 28

Human phenotypes related to Spermatogenic Failure 28:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 decreased testicular size 31 HP:0008734
3 elevated circulating follicle stimulating hormone level 31 HP:0008232
4 elevated circulating luteinizing hormone level 31 HP:0011969

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary External Genitalia Male:
small testes

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

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

Clinical features from OMIM®:

618086 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 28

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 28

Genetic Tests for Spermatogenic Failure 28

Genetic tests related to Spermatogenic Failure 28:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 28 29 FANCM

Anatomical Context for Spermatogenic Failure 28

MalaCards organs/tissues related to Spermatogenic Failure 28:

40
Testes

Publications for Spermatogenic Failure 28

Articles related to Spermatogenic Failure 28:

# Title Authors PMID Year
1
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. 6 57
30075111 2018
2
A homozygous FANCM frameshift pathogenic variant causes male infertility. 57
29895858 2019
3
Correction: A homozygous FANCM frameshift pathogenic variant causes male infertility. 6
30158692 2019
4
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. 6
29231814 2017
5
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer. 6
28033443 2017

Variations for Spermatogenic Failure 28

ClinVar genetic disease variations for Spermatogenic Failure 28:

6 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FANCM NM_020937.4(FANCM):c.2095G>T (p.Glu699Ter) SNV Pathogenic 998220 GRCh37: 14:45639884-45639884
GRCh38: 14:45170681-45170681
2 FANCM NM_020937.4(FANCM):c.4387-10A>G SNV Pathogenic 559550 rs1555365959 GRCh37: 14:45652967-45652967
GRCh38: 14:45183764-45183764
3 FANCM NM_020937.4(FANCM):c.1491dup (p.Gln498fs) Duplication Pathogenic 208640 rs797045116 GRCh37: 14:45628392-45628393
GRCh38: 14:45159189-45159190
4 FANCM NM_020937.4(FANCM):c.1946_1958del (p.Pro649fs) Deletion Pathogenic 559554 rs1555363275 GRCh37: 14:45636309-45636321
GRCh38: 14:45167106-45167118
5 FANCM NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) SNV Pathogenic 412519 rs147021911 GRCh37: 14:45658326-45658326
GRCh38: 14:45189123-45189123
6 FANCM NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) SNV Uncertain significance 313209 rs142864437 GRCh37: 14:45644816-45644816
GRCh38: 14:45175613-45175613
7 FANCM NM_020937.4(FANCM):c.1074G>C (p.Glu358Asp) SNV Uncertain significance 998219 GRCh37: 14:45623146-45623146
GRCh38: 14:45153943-45153943
8 FANCM NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) SNV Uncertain significance 456254 rs148810507 GRCh37: 14:45633647-45633647
GRCh38: 14:45164444-45164444
9 FANCM NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) SNV Uncertain significance 444327 rs368728266 GRCh37: 14:45636336-45636336
GRCh38: 14:45167133-45167133
10 FANCM NM_020937.4(FANCM):c.53G>A (p.Arg18Gln) SNV Uncertain significance 456276 rs146609069 GRCh37: 14:45605287-45605287
GRCh38: 14:45136084-45136084
11 FANCM NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) SNV Uncertain significance 313218 rs200360968 GRCh37: 14:45650888-45650888
GRCh38: 14:45181685-45181685
12 FANCM NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) SNV Uncertain significance 526381 rs144567652 GRCh37: 14:45667921-45667921
GRCh38: 14:45198718-45198718
13 FANCM NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) SNV Uncertain significance 313199 rs144215747 GRCh37: 14:45628478-45628478
GRCh38: 14:45159275-45159275
14 FANCM NM_020937.4(FANCM):c.523T>C (p.Ser175Pro) SNV Uncertain significance 414846 rs779858649 GRCh37: 14:45606286-45606286
GRCh38: 14:45137083-45137083
15 FANCM NM_020937.4(FANCM):c.4641del (p.Asn1547fs) Deletion Uncertain significance 997617 GRCh37: 14:45654545-45654545
GRCh38: 14:45185342-45185342
16 FANCM NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) SNV Uncertain significance 313199 rs144215747 GRCh37: 14:45628478-45628478
GRCh38: 14:45159275-45159275
17 FANCM NM_020937.4(FANCM):c.5020A>G (p.Ser1674Gly) SNV Uncertain significance 526313 rs140499872 GRCh37: 14:45658245-45658245
GRCh38: 14:45189042-45189042
18 FANCM NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) SNV Uncertain significance 313193 rs77374493 GRCh37: 14:45606290-45606290
GRCh38: 14:45137087-45137087
19 FANCM NM_020937.4(FANCM):c.2518G>A (p.Val840Ile) SNV Uncertain significance 857495 GRCh37: 14:45644475-45644475
GRCh38: 14:45175272-45175272
20 FANCM NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val) SNV Uncertain significance 998221 GRCh37: 14:45645052-45645052
GRCh38: 14:45175849-45175849
21 FANCM NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala) SNV Uncertain significance 998258 GRCh37: 14:45658518-45658518
GRCh38: 14:45189315-45189315
22 FANCM NM_020937.4(FANCM):c.868A>G (p.Ile290Val) SNV Uncertain significance 998259 GRCh37: 14:45618148-45618148
GRCh38: 14:45148945-45148945
23 FANCM NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp) SNV Uncertain significance 456249 rs752364451 GRCh37: 14:45623908-45623908
GRCh38: 14:45154705-45154705
24 FANCM NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn) SNV Uncertain significance 408223 rs752560995 GRCh37: 14:45644454-45644454
GRCh38: 14:45175251-45175251
25 FANCM NM_020937.4(FANCM):c.5569G>A (p.Val1857Met) SNV Uncertain significance 408221 rs144008013 GRCh37: 14:45665603-45665603
GRCh38: 14:45196400-45196400
26 FANCM NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp) SNV Uncertain significance 456249 rs752364451 GRCh37: 14:45623908-45623908
GRCh38: 14:45154705-45154705
27 FANCM NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) SNV Uncertain significance 313194 rs368937236 GRCh37: 14:45606310-45606310
GRCh38: 14:45137107-45137107
28 FANCM NM_020937.4(FANCM):c.1046T>C (p.Ile349Thr) SNV Uncertain significance 938619 GRCh37: 14:45620727-45620727
GRCh38: 14:45151524-45151524
29 FANCM NM_020937.4(FANCM):c.2003-3T>C SNV Uncertain significance 837924 GRCh37: 14:45639789-45639789
GRCh38: 14:45170586-45170586
30 FANCM NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe) SNV Uncertain significance 665106 rs138274490 GRCh37: 14:45644766-45644766
GRCh38: 14:45175563-45175563
31 FANCM NM_020937.4(FANCM):c.4946T>G (p.Leu1649Arg) SNV Uncertain significance 997501 GRCh37: 14:45658171-45658171
GRCh38: 14:45188968-45188968
32 FANCM NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) SNV Uncertain significance 568489 rs138225703 GRCh37: 14:45623953-45623953
GRCh38: 14:45154750-45154750
33 FANCM NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) SNV Uncertain significance 313200 rs202171930 GRCh37: 14:45633721-45633721
GRCh38: 14:45164518-45164518
34 FANCM NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu) SNV Uncertain significance 452291 rs149348098 GRCh37: 14:45645949-45645949
GRCh38: 14:45176746-45176746
35 FANCM NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln) SNV Uncertain significance 864066 GRCh37: 14:45623965-45623965
GRCh38: 14:45154762-45154762
36 FANCM NM_020937.4(FANCM):c.3794A>G (p.Glu1265Gly) SNV Uncertain significance 861151 GRCh37: 14:45645751-45645751
GRCh38: 14:45176548-45176548
37 FANCM NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) SNV Uncertain significance 313200 rs202171930 GRCh37: 14:45633721-45633721
GRCh38: 14:45164518-45164518
38 FANCM NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala) SNV Uncertain significance 526312 rs146325649 GRCh37: 14:45642270-45642270
GRCh38: 14:45173067-45173067
39 FANCM NM_020937.4(FANCM):c.812C>G (p.Ser271Cys) SNV Uncertain significance 854341 GRCh37: 14:45618092-45618092
GRCh38: 14:45148889-45148889
40 FANCM NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) SNV Uncertain significance 241324 rs143662421 GRCh37: 14:45658449-45658449
GRCh38: 14:45189246-45189246

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 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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