SRXX4
MCID: 46X059
MIFTS: 21

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 57 74 29 6
Srxx4 57 74
46,xx Sex Reversal, Sry-Negative 57
46,xx Sex Reversal Sry-Negative 74
46,xx Sex Reversal, Type 4 40
46, Xx Sex Reversal 4 57

Characteristics:

OMIM:

57
Miscellaneous:
incomplete penetrance
variable features may be present

Inheritance:
autosomal dominant


HPO:

32
46,xx sex reversal 4:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 617480
MeSH 44 D058531

Summaries for 46,xx Sex Reversal 4

UniProtKB/Swiss-Prot : 74 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 testis, and related phenotypes are micropenis and ambiguous genitalia

More information 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:

32
# Description HPO Frequency HPO Source Accession
1 micropenis 32 HP:0000054
2 ambiguous genitalia 32 HP:0000062
3 penoscrotal hypospadias 32 HP:0000808
4 clitoral hypertrophy 32 HP:0008665

Symptoms via clinical synopsis from OMIM:

57
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 29 NR5A1

Anatomical Context for 46,xx Sex Reversal 4

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

41
Testes, Testis

Publications for 46,xx Sex Reversal 4

Articles related to 46,xx Sex Reversal 4:

# Title Authors PMID Year
1
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. 8 71
27490115 2017
2
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. 8 71
27855412 2017
3
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. 8 71
27610946 2017
4
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. 8 71
27378692 2016
5
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 71
26523528 2016
6
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. 71
11932325 2002
7
Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination. 38
11153920 2000

Variations for 46,xx Sex Reversal 4

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NR5A1 NM_004959.5(NR5A1): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs104894119 9:127262964-127262964 9:124500685-124500685
2 NR5A1 NM_004959.5(NR5A1): c.274C> T (p.Arg92Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs886039769 9:127262965-127262965 9:124500686-124500686

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

74
# Symbol AA change Variation ID SNP ID
1 NR5A1 p.Arg92Gln VAR_016982 rs104894119
2 NR5A1 p.Arg92Trp VAR_078137 rs886039769

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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