MCID: 46X047
MIFTS: 18

46,xy Sex Reversal 7

Categories: Genetic diseases

Aliases & Classifications for 46,xy Sex Reversal 7

MalaCards integrated aliases for 46,xy Sex Reversal 7:

Name: 46,xy Sex Reversal 7 57 75
46,xy Sex Reversal, Type 7 29 6 40
46,xy Gonadal Dysgenesis, Partial or Complete, Dhh-Related 57 75
46,xy Sex Reversal, Partial or Complete, Dhh-Related 57 75
46xy Sex Reversal 7 57 13
Srxy7 57 75
Gdxym 57 75
46,xy Gonadal Dysgenesis, Complete or Partial, Dhh-Related 73
Gonadal Dysgenesis, Xy, Male-Limited; Gdxym 57
Complete Pure Gonadal Dysgenesis 46,xy Type 75
Male-Limited Gonadal Dysgenesis 46,xy 75
Gonadal Dysgenesis, Xy, Male-Limited 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
heterogeneous


HPO:

32
46,xy sex reversal 7:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 233420
MeSH 44 D006061
UMLS 73 C1856273

Summaries for 46,xy Sex Reversal 7

UniProtKB/Swiss-Prot : 75 46,XY sex reversal 7: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. SRXY7 patients have no functional gonads.

MalaCards based summary : 46,xy Sex Reversal 7, is also known as 46,xy sex reversal, type 7. An important gene associated with 46,xy Sex Reversal 7 is DHH (Desert Hedgehog). Affiliated tissues include ovary and uterus, and related phenotypes are primary amenorrhea and gonadoblastoma

Description from OMIM: 233420

Related Diseases for 46,xy Sex Reversal 7

Symptoms & Phenotypes for 46,xy Sex Reversal 7

Symptoms via clinical synopsis from OMIM:

57
GU:
gonadal dysgenesis
primary amenorrhea


Clinical features from OMIM:

233420

Human phenotypes related to 46,xy Sex Reversal 7:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 32 HP:0000786
2 gonadoblastoma 32 frequent (33%) HP:0000150
3 sex reversal 32 HP:0012245
4 hypoplasia of the uterus 32 frequent (33%) HP:0000013
5 streak ovary 32 frequent (33%) HP:0010464
6 gonadal dysgenesis, male 32 hallmark (90%) HP:0008668
7 hypoplasia of the fallopian tube 32 frequent (33%) HP:0008697
8 abnormality of the epididymis 32 frequent (33%) HP:0009714

Drugs & Therapeutics for 46,xy Sex Reversal 7

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal 7

Genetic Tests for 46,xy Sex Reversal 7

Genetic tests related to 46,xy Sex Reversal 7:

# Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 7 29 DHH

Anatomical Context for 46,xy Sex Reversal 7

MalaCards organs/tissues related to 46,xy Sex Reversal 7:

41
Ovary, Uterus

Publications for 46,xy Sex Reversal 7

Variations for 46,xy Sex Reversal 7

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 7:

75
# Symbol AA change Variation ID SNP ID
1 DHH p.Leu162Pro VAR_054873 rs111033589

ClinVar genetic disease variations for 46,xy Sex Reversal 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DHH NM_021044.3(DHH): c.1027T> C (p.Cys343Arg) single nucleotide variant Likely pathogenic rs867798393 GRCh37 Chromosome 12, 49483806: 49483806
2 DHH NM_021044.3(DHH): c.1027T> C (p.Cys343Arg) single nucleotide variant Likely pathogenic rs867798393 GRCh38 Chromosome 12, 49090023: 49090023
3 DHH NM_021044.3(DHH): c.80G> A (p.Arg27Gln) single nucleotide variant Uncertain significance rs779682957 GRCh37 Chromosome 12, 49488216: 49488216
4 DHH NM_021044.3(DHH): c.80G> A (p.Arg27Gln) single nucleotide variant Uncertain significance rs779682957 GRCh38 Chromosome 12, 49094433: 49094433
5 DHH NM_021044.3(DHH): c.860C> A (p.Ala287Glu) single nucleotide variant Uncertain significance rs1033987082 GRCh38 Chromosome 12, 49090190: 49090190
6 DHH NM_021044.3(DHH): c.860C> A (p.Ala287Glu) single nucleotide variant Uncertain significance rs1033987082 GRCh37 Chromosome 12, 49483973: 49483973

Expression for 46,xy Sex Reversal 7

Search GEO for disease gene expression data for 46,xy Sex Reversal 7.

Pathways for 46,xy Sex Reversal 7

GO Terms for 46,xy Sex Reversal 7

Sources for 46,xy Sex Reversal 7

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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