MCID: 46X059
MIFTS: 16

46,xx Sex Reversal 4

Categories: Genetic 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 75 29 6
Srxx4 57 75
46,xx Sex Reversal, Sry-Negative 57
46,xx Sex Reversal Sry-Negative 75
46, Xx Sex Reversal 4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
variable features may be present


Classifications:



External Ids:

OMIM 57 617480
MeSH 44 D058531

Summaries for 46,xx Sex Reversal 4

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 617480

Related Diseases for 46,xx Sex Reversal 4

Symptoms & Phenotypes for 46,xx Sex Reversal 4

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
small penis (46xx)
retractile testes (46xx)
atrophic testes (46xx)

GenitourinaryInternal GenitaliaMale:
dysgenetic testes (46xy, 46xx)
penoscrotal hypospadias (46xx)

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)


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

Publications for 46,xx Sex Reversal 4

Variations for 46,xx Sex Reversal 4

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

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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