Aliases & Classifications for 46,xx Sex Reversal 2

MalaCards integrated aliases for 46,xx Sex Reversal 2:

Name: 46,xx Sex Reversal 2 57 75 29 6 73
46xx Sex Reversal 2 57 13
Srxx2 57 75
46,xx Sex Reversal Partial or Complete Sox9-Related 75
46, Xx Testicular Disorders of Sex Development 44
Chromosome 17q24 Duplication Syndrome 57
46,xx Sex Reversal, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
46,xy carriers are unaffected


HPO:

32
46,xx sex reversal 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for 46,xx Sex Reversal 2

UniProtKB/Swiss-Prot : 75 46,XX sex reversal 2: A condition in which male gonads develop in a genetic female (female to male sex reversal).

MalaCards based summary : 46,xx Sex Reversal 2, also known as 46xx sex reversal 2, is related to 46,xx sex reversal 1. An important gene associated with 46,xx Sex Reversal 2 is SRXX2 (46XX Sex Reversal 2). Affiliated tissues include uterus and testes, and related phenotypes are hypoplasia of the uterus and azoospermia

Description from OMIM: 278850

Related Diseases for 46,xx Sex Reversal 2

Diseases related to 46,xx Sex Reversal 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 1 11.5

Symptoms & Phenotypes for 46,xx Sex Reversal 2

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
azoospermia
atrophic seminiferous tubules
normal to small testes (in some patients)
ovotestis (in some patients)
leydig cells present
more
Genitourinary Internal Genitalia Female:
rudimentary uterus
primordial follicles
rudimentary vagina
fallopian tube structures
streak gonad
more
Chest Breasts:
mild gynecomastia (in some patients)

Genitourinary External Genitalia Male:
bifid scrotum
perineal hypospadias
hypoplastic scrotum
small penis
phenotypically normal male (in some patients)
more
Endocrine Features:
elevated follicle-stimulating hormone (fsh) levels
low serum testosterone levels
elevated luteinizing hormone (lh) levels
low anti-mullerian hormone (amh) levels

Skeletal:
normal skeletal development


Clinical features from OMIM:

278850

Human phenotypes related to 46,xx Sex Reversal 2:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the uterus 32 HP:0000013
2 azoospermia 32 HP:0000027
3 scrotal hypoplasia 32 HP:0000046
4 bifid scrotum 32 HP:0000048
5 perineal hypospadias 32 HP:0000051
6 micropenis 32 HP:0000054
7 hypoplasia of the vagina 32 HP:0008726
8 true hermaphroditism 32 HP:0010459
9 sex reversal 32 HP:0012245
10 ovotestis 32 occasional (7.5%) HP:0012861
11 decreased serum testosterone level 32 HP:0040171

Drugs & Therapeutics for 46,xx Sex Reversal 2

Search Clinical Trials , NIH Clinical Center for 46,xx Sex Reversal 2

Cochrane evidence based reviews: 46, xx testicular disorders of sex development

Genetic Tests for 46,xx Sex Reversal 2

Genetic tests related to 46,xx Sex Reversal 2:

# Genetic test Affiliating Genes
1 46,xx Sex Reversal 2 29

Anatomical Context for 46,xx Sex Reversal 2

MalaCards organs/tissues related to 46,xx Sex Reversal 2:

41
Uterus, Testes

Publications for 46,xx Sex Reversal 2

Articles related to 46,xx Sex Reversal 2:

# Title Authors Year
1
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive. ( 25169080 )
2014

Variations for 46,xx Sex Reversal 2

ClinVar genetic disease variations for 46,xx Sex Reversal 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX9 SOX9, 178-KB DUP, UPSTREAM REGULATORY REGION duplication Pathogenic
2 SOX9 SOX9, 148-KB DUP, UPSTREAM REGULATORY REGION duplication Pathogenic
3 SOX9 SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION undetermined variant Pathogenic

Expression for 46,xx Sex Reversal 2

Search GEO for disease gene expression data for 46,xx Sex Reversal 2.

Pathways for 46,xx Sex Reversal 2

GO Terms for 46,xx Sex Reversal 2

Sources for 46,xx Sex Reversal 2

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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