SRXX4
MCID: 46X059
MIFTS: 22

46,xx Sex Reversal 4 (SRXX4)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xx Sex Reversal 4

MalaCards integrated aliases for 46,xx Sex Reversal 4:

Name: 46,xx Sex Reversal 4 58 76 30 6
Srxx4 58 76
46,xx Sex Reversal, Sry-Negative 58
46,xx Sex Reversal Sry-Negative 76
46,xx Sex Reversal, Type 4 41
46, Xx Sex Reversal 4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
variable features may be present


HPO:

33
46,xx sex reversal 4:
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 58 617480
MeSH 45 D058531

Summaries for 46,xx Sex Reversal 4

UniProtKB/Swiss-Prot : 76 46,XX sex reversal 4: A condition in which male gonads develop in a genetic female (female to male sex reversal).

MalaCards based summary : 46,xx Sex Reversal 4, is also known as srxx4. An important gene associated with 46,xx Sex Reversal 4 is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1). Affiliated tissues include testes, and related phenotypes are ambiguous genitalia and micropenis

Description from OMIM: 617480

Related Diseases for 46,xx Sex Reversal 4

Symptoms & Phenotypes for 46,xx Sex Reversal 4

Human phenotypes related to 46,xx Sex Reversal 4:

33
# Description HPO Frequency HPO Source Accession
1 ambiguous genitalia 33 HP:0000062
2 micropenis 33 HP:0000054
3 penoscrotal hypospadias 33 HP:0000808
4 clitoral hypertrophy 33 HP:0008665

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
low testosterone
normal baseline and stimulated adrenal hormones and precursors

Genitourinary External Genitalia Female:
ambiguous genitalia (46xx)
clitoromegaly (46xx)
rugated labia majora (46xx)
labial fusion (46xy)

Genitourinary Internal Genitalia Female:
ovotestes (46xx)
short, blind-ending vagina (46xx)

Genitourinary External Genitalia Male:
small penis (46xx)
retractile testes (46xx)
atrophic testes (46xx)

Genitourinary Internal Genitalia Male:
dysgenetic testes (46xy, 46xx)
penoscrotal hypospadias (46xx)

Clinical features from OMIM:

617480

Drugs & Therapeutics for 46,xx Sex Reversal 4

Search Clinical Trials , NIH Clinical Center for 46,xx Sex Reversal 4

Genetic Tests for 46,xx Sex Reversal 4

Genetic tests related to 46,xx Sex Reversal 4:

# Genetic test Affiliating Genes
1 46,xx Sex Reversal 4 30 NR5A1

Anatomical Context for 46,xx Sex Reversal 4

MalaCards organs/tissues related to 46,xx Sex Reversal 4:

42
Testes

Publications for 46,xx Sex Reversal 4

Articles related to 46,xx Sex Reversal 4:

# Title Authors Year
1
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. ( 27490115 )
2017
2
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. ( 27610946 )
2017
3
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. ( 27855412 )
2017
4
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. ( 26523528 )
2016
5
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. ( 27378692 )
2016
6
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. ( 11932325 )
2002

Variations for 46,xx Sex Reversal 4

UniProtKB/Swiss-Prot genetic disease variations for 46,xx Sex Reversal 4:

76
# Symbol AA change Variation ID SNP ID
1 NR5A1 p.Arg92Gln VAR_016982 rs104894119
2 NR5A1 p.Arg92Trp VAR_078137 rs886039769

ClinVar genetic disease variations for 46,xx Sex Reversal 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NR5A1 NM_004959.4(NR5A1): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs104894119 GRCh37 Chromosome 9, 127262964: 127262964
2 NR5A1 NM_004959.4(NR5A1): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs104894119 GRCh38 Chromosome 9, 124500685: 124500685
3 NR5A1 NM_004959.4(NR5A1): c.274C> T (p.Arg92Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs886039769 GRCh37 Chromosome 9, 127262965: 127262965
4 NR5A1 NM_004959.4(NR5A1): c.274C> T (p.Arg92Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs886039769 GRCh38 Chromosome 9, 124500686: 124500686

Expression for 46,xx Sex Reversal 4

Search GEO for disease gene expression data for 46,xx Sex Reversal 4.

Pathways for 46,xx Sex Reversal 4

GO Terms for 46,xx Sex Reversal 4

Sources for 46,xx Sex Reversal 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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