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 56 12 73 29 6
Srxx4 56 12 73
46,xx Sex Reversal, Sry-Negative 56
46,xx Sex Reversal Sry-Negative 73
46,xx Sex Reversal, Type 4 39
46, Xx Sex Reversal 4 56

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
variable features may be present

Inheritance:
autosomal dominant


HPO:

31
46,xx sex reversal 4:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111764
OMIM 56 617480
MeSH 43 D058531

Summaries for 46,xx Sex Reversal 4

UniProtKB/Swiss-Prot : 73 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

Disease Ontology : 12 A 46,XX sex reversal that has material basis in heterozygous mutation in NR5A1 on chromosome 9q33.3.

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:

31
# Description HPO Frequency HPO Source Accession
1 micropenis 31 HP:0000054
2 ambiguous genitalia 31 HP:0000062
3 clitoral hypertrophy 31 HP:0008665
4 penoscrotal hypospadias 31 HP:0000808

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 6 56
27490115 2017
2
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. 56 6
27610946 2017
3
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant. 6 56
27855412 2017
4
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. 56 6
27378692 2016
5
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 6
26523528 2016
6
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. 6
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. 61
11153920 2000

Variations for 46,xx Sex Reversal 4

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NR5A1 NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln)SNV Pathogenic 12796 rs104894119 9:127262964-127262964 9:124500685-124500685
2 NR5A1 NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)SNV Conflicting interpretations of pathogenicity 265792 rs886039769 9:127262965-127262965 9:124500686-124500686

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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