SRXY7
MCID: 46X047
MIFTS: 32

46,xy Sex Reversal 7 (SRXY7)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for 46,xy Sex Reversal 7

MalaCards integrated aliases for 46,xy Sex Reversal 7:

Name: 46,xy Sex Reversal 7 57 11 73 28 5 14
46,xy Gonadal Dysgenesis, Partial or Complete, Dhh-Related 57 11 73
46,xy Sex Reversal, Partial or Complete, Dhh-Related 57 11 73
Srxy7 57 11 73
Gdxym 57 11 73
46,xy Gonadal Dysgenesis, Complete or Partial, Dhh-Related 71
Complete Pure Gonadal Dysgenesis 46,xy Type 73
Male-Limited Gonadal Dysgenesis 46,xy 73
Gonadal Dysgenesis, Xy, Male-Limited 57
Gonadal Dysgenesis, Xy, Male Limited 11
46xy Sex Reversal 7 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
based on a report of 3 unrelated 46xy patients with female phenotype


Classifications:



External Ids:

Disease Ontology 11 DOID:0111774
OMIM® 57 233420
OMIM Phenotypic Series 57 PS400044
MeSH 43 D006061
UMLS 71 C1856273

Summaries for 46,xy Sex Reversal 7

Disease Ontology: 11 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, also known as 46,xy gonadal dysgenesis, partial or complete, dhh-related, is related to holoprosencephaly 7 and joubert syndrome 32. An important gene associated with 46,xy Sex Reversal 7 is DHH (Desert Hedgehog Signaling Molecule). Affiliated tissues include ovary, uterus and testis, and related phenotypes are gonadoblastoma and hypoplasia of the uterus

UniProtKB/Swiss-Prot: 73 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:

30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gonadoblastoma 30 Frequent (33%) HP:0000150
2 hypoplasia of the uterus 30 Frequent (33%) HP:0000013
3 hypoplasia of the fallopian tube 30 Frequent (33%) HP:0008697
4 abnormal epididymis morphology 30 Frequent (33%) HP:0009714
5 streak ovary 30 Very rare (1%) HP:0010464
6 gonadal dysgenesis, male 30 Very rare (1%) HP:0008668
7 sex reversal 30 Very rare (1%) HP:0012245
8 dysgerminoma 30 Very rare (1%) HP:0100621
9 primary amenorrhea 30 HP:0000786

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 AP4B1 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 7 28 DHH

Anatomical Context for 46,xy Sex Reversal 7

Organs/tissues related to 46,xy Sex Reversal 7:

MalaCards : Ovary, Uterus, Testis
ODiseA: Testis, 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 5
15356051 2004
2
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. 5
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 46,XY pure testicular dysgenesis. 57
474628 1979
10
H-Y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis. 57
535902 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. 62
33594065 2021

Variations for 46,xy Sex Reversal 7

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

5 (show all 49)
# 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) DEL 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) DEL 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.1004T>C (p.Leu335Pro) SNV Pathogenic
1685695 GRCh37: 12:49483829-49483829
GRCh38: 12:49090046-49090046
7 DHH NM_021044.4(DHH):c.634G>A (p.Glu212Lys) SNV Likely Pathogenic
561190 rs1480612338 GRCh37: 12:49484199-49484199
GRCh38: 12:49090416-49090416
8 DHH NM_021044.4(DHH):c.1027T>C (p.Cys343Arg) SNV Likely Pathogenic
265768 rs867798393 GRCh37: 12:49483806-49483806
GRCh38: 12:49090023-49090023
9 DHH NM_021044.4(DHH):c.1134T>A (p.Thr378=) SNV Conflicting Interpretations Of Pathogenicity
309098 rs144444357 GRCh37: 12:49483699-49483699
GRCh38: 12:49089916-49089916
10 DHH NM_021044.4(DHH):c.228C>T (p.Asp76=) SNV Conflicting Interpretations Of Pathogenicity
772189 rs201597166 GRCh37: 12:49488068-49488068
GRCh38: 12:49094285-49094285
11 DHH NM_021044.4(DHH):c.980C>A (p.Pro327Gln) SNV Uncertain Significance
933985 rs1939268481 GRCh37: 12:49483853-49483853
GRCh38: 12:49090070-49090070
12 DHH NM_021044.4(DHH):c.822T>G (p.Phe274Leu) SNV Uncertain Significance
948136 rs1242767279 GRCh37: 12:49484011-49484011
GRCh38: 12:49090228-49090228
13 overlap with 2 genes GRCh37/hg19 16q24.3(chr16:89845820-89913583) CN GAIN Uncertain Significance
1703657 GRCh37: 16:89845820-89913583
GRCh38:
14 DHH NM_021044.4(DHH):c.-53G>A SNV Uncertain Significance
883143 rs913605931 GRCh37: 12:49488348-49488348
GRCh38: 12:49094565-49094565
15 DHH NM_021044.4(DHH):c.135C>T (p.Tyr45=) SNV Uncertain Significance
883142 rs765506943 GRCh37: 12:49488161-49488161
GRCh38: 12:49094378-49094378
16 DHH NM_021044.4(DHH):c.217C>G (p.Arg73Gly) SNV Uncertain Significance
883141 rs754182591 GRCh37: 12:49488079-49488079
GRCh38: 12:49094296-49094296
17 DHH NM_021044.4(DHH):c.305G>A (p.Arg102His) SNV Uncertain Significance
883140 rs149972274 GRCh37: 12:49485171-49485171
GRCh38: 12:49091388-49091388
18 DHH NM_021044.4(DHH):c.234G>A (p.Val78=) SNV Uncertain Significance
309105 rs370468314 GRCh37: 12:49488062-49488062
GRCh38: 12:49094279-49094279
19 DHH NM_021044.4(DHH):c.860C>A (p.Ala287Glu) SNV Uncertain Significance
466305 rs1033987082 GRCh37: 12:49483973-49483973
GRCh38: 12:49090190-49090190
20 DHH NM_021044.4(DHH):c.80G>A (p.Arg27Gln) SNV Uncertain Significance
466304 rs779682957 GRCh37: 12:49488216-49488216
GRCh38: 12:49094433-49094433
21 DHH NM_021044.4(DHH):c.726C>T (p.Phe242=) SNV Uncertain Significance
309100 rs886049491 GRCh37: 12:49484107-49484107
GRCh38: 12:49090324-49090324
22 DHH NM_021044.4(DHH):c.-256C>G SNV Uncertain Significance
309109 rs563591024 GRCh37: 12:49488551-49488551
GRCh38: 12:49094768-49094768
23 DHH NM_021044.4(DHH):c.*159G>T SNV Uncertain Significance
309095 rs886049489 GRCh37: 12:49483483-49483483
GRCh38: 12:49089700-49089700
24 DHH NM_021044.4(DHH):c.587C>A (p.Ala196Glu) SNV Uncertain Significance
309101 rs755199142 GRCh37: 12:49484246-49484246
GRCh38: 12:49090463-49090463
25 DHH NM_021044.4(DHH):c.-254G>A SNV Uncertain Significance
309107 rs577191826 GRCh37: 12:49488549-49488549
GRCh38: 12:49094766-49094766
26 DHH NM_021044.4(DHH):c.367C>T (p.Leu123=) SNV Uncertain Significance
309104 rs760627027 GRCh37: 12:49485109-49485109
GRCh38: 12:49091326-49091326
27 DHH NM_021044.4(DHH):c.*110G>C SNV Uncertain Significance
309096 rs189970312 GRCh37: 12:49483532-49483532
GRCh38: 12:49089749-49089749
28 DHH NM_021044.4(DHH):c.*401G>T SNV Uncertain Significance
309093 rs550262271 GRCh37: 12:49483241-49483241
GRCh38: 12:49089458-49089458
29 DHH NM_021044.4(DHH):c.926G>T (p.Arg309Leu) SNV Uncertain Significance
309099 rs886049490 GRCh37: 12:49483907-49483907
GRCh38: 12:49090124-49090124
30 DHH NM_021044.4(DHH):c.*154G>T SNV Uncertain Significance
880554 rs1939259964 GRCh37: 12:49483488-49483488
GRCh38: 12:49089705-49089705
31 DHH NM_021044.4(DHH):c.*65G>T SNV Uncertain Significance
880555 rs990245573 GRCh37: 12:49483577-49483577
GRCh38: 12:49089794-49089794
32 DHH NM_021044.4(DHH):c.953G>C (p.Arg318Pro) SNV Uncertain Significance
880556 rs1373354654 GRCh37: 12:49483880-49483880
GRCh38: 12:49090097-49090097
33 DHH NM_021044.4(DHH):c.656T>G (p.Leu219Arg) SNV Uncertain Significance
881975 rs1939277254 GRCh37: 12:49484177-49484177
GRCh38: 12:49090394-49090394
34 DHH NM_021044.4(DHH):c.630C>A (p.Ser210Arg) SNV Uncertain Significance
881976 rs764922471 GRCh37: 12:49484203-49484203
GRCh38: 12:49090420-49090420
35 DHH NM_021044.4(DHH):c.565+13G>A SNV Uncertain Significance
881977 rs369743278 GRCh37: 12:49484898-49484898
GRCh38: 12:49091115-49091115
36 DHH NM_021044.4(DHH):c.536G>A (p.Arg179His) SNV Uncertain Significance
881978 rs768138247 GRCh37: 12:49484940-49484940
GRCh38: 12:49091157-49091157
37 DHH NM_021044.4(DHH):c.*427C>T SNV Uncertain Significance
883846 rs1389748240 GRCh37: 12:49483215-49483215
GRCh38: 12:49089432-49089432
38 DHH NM_021044.4(DHH):c.799C>G (p.Leu267Val) SNV Uncertain Significance
1378694 GRCh37: 12:49484034-49484034
GRCh38: 12:49090251-49090251
39 DHH NM_021044.4(DHH):c.286G>T (p.Asp96Tyr) SNV Uncertain Significance
1376380 GRCh37: 12:49488010-49488010
GRCh38: 12:49094227-49094227
40 DHH NM_021044.4(DHH):c.605G>A (p.Gly202Glu) SNV Uncertain Significance
1440085 GRCh37: 12:49484228-49484228
GRCh38: 12:49090445-49090445
41 DHH NM_021044.4(DHH):c.324C>A (p.Asn108Lys) SNV Uncertain Significance
1490815 GRCh37: 12:49485152-49485152
GRCh38: 12:49091369-49091369
42 DHH NM_021044.4(DHH):c.174C>A (p.Gly58=) SNV Likely Benign
1541814 GRCh37: 12:49488122-49488122
GRCh38: 12:49094339-49094339
43 DHH NM_021044.4(DHH):c.303+10G>A SNV Likely Benign
1669346 GRCh37: 12:49487983-49487983
GRCh38: 12:49094200-49094200
44 DHH NM_021044.4(DHH):c.*219G>A SNV Likely Benign
309094 rs145466782 GRCh37: 12:49483423-49483423
GRCh38: 12:49089640-49089640
45 DHH NM_021044.4(DHH):c.-255T>C SNV Benign
309108 rs59178045 GRCh37: 12:49488550-49488550
GRCh38: 12:49094767-49094767
46 DHH NM_021044.4(DHH):c.*87G>T SNV Benign
309097 rs75012285 GRCh37: 12:49483555-49483555
GRCh38: 12:49089772-49089772
47 DHH NM_021044.4(DHH):c.-18C>T SNV Benign
309106 rs112818602 GRCh37: 12:49488313-49488313
GRCh38: 12:49094530-49094530
48 DHH NM_021044.4(DHH):c.543C>T (p.His181=) SNV Benign
309103 rs117527954 GRCh37: 12:49484933-49484933
GRCh38: 12:49091150-49091150
49 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:

73
# 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

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 8.92 DHH BBS1

Sources for 46,xy Sex Reversal 7

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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