SRXY7
MCID: 46X047
MIFTS: 31

46,xy Sex Reversal 7 (SRXY7)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 12 72 15
46,xy Gonadal Dysgenesis, Partial or Complete, Dhh-Related 57 12 72
46,xy Sex Reversal, Partial or Complete, Dhh-Related 57 12 72
46,xy Sex Reversal, Type 7 29 6 39
Srxy7 57 12 72
Gdxym 57 12 72
46xy Sex Reversal 7 57 13
46,xy Gonadal Dysgenesis, Complete or Partial, Dhh-Related 70
Gonadal Dysgenesis, Xy, Male-Limited; Gdxym 57
Complete Pure Gonadal Dysgenesis 46,xy Type 72
Male-Limited Gonadal Dysgenesis 46,xy 72
Gonadal Dysgenesis, Xy, Male-Limited 57
Gonadal Dysgenesis, Xy, Male Limited 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 3 unrelated 46xy patients with female phenotype


HPO:

31
46,xy sex reversal 7:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0111774
OMIM® 57 233420
OMIM Phenotypic Series 57 PS400044
MeSH 44 D006061
UMLS 70 C1856273

Summaries for 46,xy Sex Reversal 7

Disease Ontology : 12 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has material basis in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12.

MalaCards based summary : 46,xy Sex Reversal 7, is also known as 46,xy gonadal dysgenesis, partial or complete, dhh-related. An important gene associated with 46,xy Sex Reversal 7 is DHH (Desert Hedgehog Signaling Molecule), and among its related pathways/superpathways is Lysosome. Affiliated tissues include uterus and ovary, and related phenotypes are gonadal dysgenesis, male and gonadoblastoma

UniProtKB/Swiss-Prot : 72 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.

More information from OMIM: 233420 PS400044

Related Diseases for 46,xy Sex Reversal 7

Symptoms & Phenotypes for 46,xy Sex Reversal 7

Human phenotypes related to 46,xy Sex Reversal 7:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 gonadal dysgenesis, male 31 hallmark (90%) HP:0008668
2 gonadoblastoma 31 frequent (33%) HP:0000150
3 streak ovary 31 frequent (33%) HP:0010464
4 hypoplasia of the uterus 31 frequent (33%) HP:0000013
5 hypoplasia of the fallopian tube 31 frequent (33%) HP:0008697
6 abnormality of the epididymis 31 frequent (33%) HP:0009714
7 primary amenorrhea 31 HP:0000786
8 sex reversal 31 HP:0012245

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary External Genitalia Female:
female-appearing external genitalia (in 46xy individuals)

Genitourinary Internal Genitalia Female:
infantile uterus (in 46xy individuals)
fallopian tubes present (in 46xy individuals)
epididymis, unilateral or bilateral
bilateral streak gonads
bilateral gonadoblastoma (in 1 patient)
more

Clinical features from OMIM®:

233420 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to 46,xy Sex Reversal 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 AP4B1 BBS1 DHH GNPTAB SURF1
2 limbs/digits/tail MP:0005371 9.33 BBS1 GNPTAB SURF1
3 reproductive system MP:0005389 8.92 BBS1 DHH GNPTAB SURF1

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:

40
Uterus, Ovary

Publications for 46,xy Sex Reversal 7

Articles related to 46,xy Sex Reversal 7:

(show all 12)
# Title Authors PMID Year
1
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. 57 6
15356051 2004
2
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 6
30298535 2018
3
Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. 57
8954063 1996
4
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. 57
8496317 1993
5
H-Y antigen generating and receptor systems in abnormal sexual development. 57
7158639 1982
6
XY gonadal dysgenesis: aberrant testicular differentiation in the presence of H-Y antigen. 57
7195530 1981
7
Mechanisms of gonadal differentiation. 57
7010601 1981
8
H-Y antigen in 46,XY gonadal dysgenesis. 57
7390478 1980
9
H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis. 57
535902 1979
10
H-Y antigen in 46,XY pure testicular dysgenesis. 57
474628 1979
11
Absence of H-Y antigen in XY females with dysgenetic gonads. 57
740033 1978
12
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh. 61
33594065 2021

Variations for 46,xy Sex Reversal 7

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

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DHH NM_021044.4(DHH):c.485T>C (p.Leu162Pro) SNV Pathogenic 5011 rs111033589 GRCh37: 12:49484991-49484991
GRCh38: 12:49091208-49091208
2 DHH NM_021044.4(DHH):c.1086del (p.Leu363fs) Deletion Pathogenic 5012 rs1592184934 GRCh37: 12:49483747-49483747
GRCh38: 12:49089964-49089964
3 DHH NM_021044.4(DHH):c.528C>A (p.Tyr176Ter) SNV Pathogenic 561187 rs1565573786 GRCh37: 12:49484948-49484948
GRCh38: 12:49091165-49091165
4 DHH NM_021044.4(DHH):c.1011del (p.Asn337fs) Deletion Pathogenic 561188 rs1565572949 GRCh37: 12:49483822-49483822
GRCh38: 12:49090039-49090039
5 DHH NM_021044.4(DHH):c.528C>G (p.Tyr176Ter) SNV Pathogenic 561189 rs1565573786 GRCh37: 12:49484948-49484948
GRCh38: 12:49091165-49091165
6 DHH NM_021044.4(DHH):c.634G>A (p.Glu212Lys) SNV Likely pathogenic 561190 rs1480612338 GRCh37: 12:49484199-49484199
GRCh38: 12:49090416-49090416
7 DHH NM_021044.4(DHH):c.1027T>C (p.Cys343Arg) SNV Likely pathogenic 265768 rs867798393 GRCh37: 12:49483806-49483806
GRCh38: 12:49090023-49090023
8 DHH NM_021044.4(DHH):c.860C>A (p.Ala287Glu) SNV Uncertain significance 466305 rs1033987082 GRCh37: 12:49483973-49483973
GRCh38: 12:49090190-49090190
9 DHH NM_021044.4(DHH):c.80G>A (p.Arg27Gln) SNV Uncertain significance 466304 rs779682957 GRCh37: 12:49488216-49488216
GRCh38: 12:49094433-49094433
10 DHH NM_021044.4(DHH):c.980C>A (p.Pro327Gln) SNV Uncertain significance 933985 GRCh37: 12:49483853-49483853
GRCh38: 12:49090070-49090070
11 DHH NM_021044.4(DHH):c.822T>G (p.Phe274Leu) SNV Uncertain significance 948136 GRCh37: 12:49484011-49484011
GRCh38: 12:49090228-49090228
12 DHH NM_021044.4(DHH):c.1134T>A (p.Thr378=) SNV Likely benign 309098 rs144444357 GRCh37: 12:49483699-49483699
GRCh38: 12:49089916-49089916
13 DHH NM_021044.4(DHH):c.228C>T (p.Asp76=) SNV Benign 772189 rs201597166 GRCh37: 12:49488068-49488068
GRCh38: 12:49094285-49094285
14 DHH NM_021044.4(DHH):c.192G>A (p.Glu64=) SNV Benign 775008 rs201464596 GRCh37: 12:49488104-49488104
GRCh38: 12:49094321-49094321

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

72
# Symbol AA change Variation ID SNP ID
1 DHH p.Leu162Pro VAR_054873 rs111033589

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

Pathways related to 46,xy Sex Reversal 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.73 GNPTAB AP4B1

GO Terms for 46,xy Sex Reversal 7

Molecular functions related to 46,xy Sex Reversal 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 8.62 DHH BBS1

Sources for 46,xy Sex Reversal 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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